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  • 51.
    Lind, Marcus
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin. Department of Medicine, Skellefteå County Hospital, 931 86 Skellefteå, Sweden.
    Jansson, Jan-Håkan
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Nilsson, Torbjörn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Johansson, Lars
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    High homocysteine and low folate plasma concentrations are associated with cardiovascular events but not bleeding during warfarin treatment2016Ingår i: Clinical Chemistry and Laboratory Medicine, ISSN 1434-6621, E-ISSN 1437-4331, Vol. 54, nr 12, s. 1981-1986Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Previous studies have shown that homocysteine and folate levels in plasma are associated with risk for cardiovascular events and mortality. The aim of this study was to investigate if plasma concentrations of total homocysteine and folate can predict major bleeding, cardiovascular events, and all-cause mortality in patients being treated with warfarin. Methods: In a longitudinal cohort study, 719 patients who were taking warfarin were followed for 3001 treatment years. The following were recorded and classified: major bleeding; cardiovascular events including stroke, arterial emboli, and myocardial infarction (MI); and mortality. Blood samples collected at baseline were analysed for plasma homocysteine and folate levels. Results: After adjustment for age, C-reactive protein, and creatinine, high homocysteine levels were associated with cardiovascular events [hazard ratio (HR) 1.23 per standard deviation (SD); 95% confidence interval (CI): 1.03-1.47], MI (HR 1.38 per SD; 95% CI: 1.03-1.85), and all-cause mortality (HR 1.41 per SD; 95% CI: 1.19-1.68). The highest tertile of folate compared to the lowest tertile was associated with decreased risk for both cardiovascular events (HR 0.64; 95% CI: 0.43-0.91) and MI (HR 0.45; 95% CI: 0.21-0.97). There was no association between major bleeding and homocysteine or folate levels. Conclusions: In patients receiving warfarin treatment, high homocysteine and low folate plasma concentrations are associated with increased risk for cardiovascular events but not major bleeding. For homocysteine levels, there is also an association with all-cause mortality.

  • 52.
    Lind, Marcus
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Jansson, Jan-Håkan
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Nilsson, Torbjörn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Järvholm, Lisbeth Slunga
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Yrkes- och miljömedicin.
    Johansson, Lars
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Cystatin C and creatinine as markers of bleeding complications, cardiovascular events and mortality during oral anticoagulant treatment2013Ingår i: Thrombosis Research, ISSN 0049-3848, E-ISSN 1879-2472, Vol. 132, nr 2, s. E77-E82Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Introduction: Impaired kidney function has been linked to both ischemic events as well as bleeding complications in several clinical conditions. Our aim was to investigate if cystatin C, creatinine and calculated glomerular filtration rate (eGFR) were related to future risk of bleeding complications, cardiovascular events or all-cause mortality during oral anticoagulant treatment.

    Materials and methods: In a cohort study, 719 patients on long-term vitamin K antagonist (VKA) treatment were followed for a mean of 4.2 years. Blood sampling was taken at inclusion and patients were followed prospectively. Cystatin C and creatinine were analysed and eGFR was calculated. All medical records were reviewed. Major bleeding events, myocardial infarctions, strokes, arterial emboli, and deaths were recorded and classified.

    Results: After adjustment for age, no association between cystatin C, creatinine or eGFR and major bleeding was found. Cystatin C was independently associated with cardiovascular events (hazard ratio 1.50 (95% CI: 1.27-1.77)) and all-cause mortality (hazard ratio 1.62 (95% CI: 1.38-1.90)). Creatinine was only associated with all-cause mortality, while eGFR was not associated with any of the outcomes.

    Conclusions: Our findings underscore the superiority of cystatin C as a marker of cardiovascular risk compared to creatinine or eGFR. VKA-treated patients with increased cystatin C levels should be considered to be at an increased risk of cardiovascular events, and not bleeding complications.

  • 53.
    Lind, Marcus
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Johansson, Lars
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Nilsson, Torbjörn
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap.
    Jansson, Jan-Håkan
    Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Medicin.
    Hollestelle, Martine J.
    von Willebrand activation factor as a marker of mortality, cardiovascular events, and bleeding complications in patients treated with oral anticoagulants2015Ingår i: Thrombosis Research, ISSN 0049-3848, E-ISSN 1879-2472, Vol. 136, nr 5, s. 878-882Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Serious bleeding is a frequent and feared treatment complication in patients treated with oral anticoagulants (OACs). Levels of von Willebrand factor (VWF) antigen have been linked to the risk of bleeding complications, mortality, and cardiovascular events. Objectives: In this longitudinal cohort study of evaluating patients treated with OACs, we aimed to evaluate the relationship between VWF displaying a glycoprotein Ib binding conformation (VWF activation factor) and the risk of cardiovascular events, bleeding complications, or all-cause mortality. Materials and methods: Blood samples were collected at baseline in 356 patients on OACs. Patients were followed for an average of 48 months and bleeding complications leading to admission to hospital or death, cardiovascular events (myocardial infarction, ischemic stroke, and peripheral arterial emboli), and all-cause mortality were recorded and classified. Results: During the study period, 47 bleeding complications, 84 cardiovascular events, and 97 deaths occurred. In multivariate Cox regression analyses, VWF activation factor was significantly associated with all-cause mortality (HR 1.62; 95% CI: 1.25-2.08) and cardiovascular events (HR 1.28; 95% CI: 1.01-1.63). There was no association observed between VWF activation factor and bleeding complications. Conclusions: Patients with high levels of VWF activation factor had an increased risk of cardiovascular events and all cause mortality during OAC treatment. The selectivity for thrombotic complications adds to the potential value of VWF activation factor as a biomarker or pharmacological target. (C) 2015 Elsevier Ltd. All rights reserved.

  • 54. Lindqvist, Breezy M.
    et al.
    Wingren, Sten
    Motlagh, Parviz Behnam
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Nilsson, Torbjörn K
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Whole genome DNA methylation signature of HER2-positive breast cancer2014Ingår i: Epigenetics, ISSN 1559-2294, E-ISSN 1559-2308, Vol. 9, nr 8, s. 1149-1162Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    In order to obtain a comprehensive DNA methylation signature of HER2-positive breast cancer (HER2+ breast cancer), we performed a genome-wide methylation analysis on 17 HER2+ breast cancer and compared with ten normal breast tissue samples using the Illumina Infinium HumanMethylation450 BeadChip (450K). In HER2+ breast cancer, we found altered DNA methylation in genes involved in multicellular development, differentiation and transcription. Within these genes, we observed an overrepresentation of homeobox family genes, including several genes that have not been previously reported in relation to cancer (DBX1, NKX2-6, SIX6). Other affected genes included several belonging to the PI3K and Wnt signaling pathways. Notably, HER2, AKT3, HK1, and PFKP, genes for which altered methylation has not been previously reported, were also identified in this analysis. In total, we report 69 candidate biomarker genes with maximum differential methylation in HER2+ breast cancer. External validation of gene expression in a selected group of these genes (n = 13) revealed lowered mean gene expression in HER2+ breast cancer. We analyzed DNA methylation in six top candidate genes (AKR1B1, INA, FOXC2, NEUROD1, CDKL2, IRF4) using EpiTect Methyl II Custom PCR Array and confirmed the 450K array findings. Future clinical studies focusing on these genes, as well as on homeobox-containing genes and HER2, AKT3, HK1, and PFKP, are warranted which could provide further insights into the biology of HER2+ breast cancer.

  • 55. Lindqvist, Breezy Malakkaran
    et al.
    Farkas, Sanja A
    Wingren, Sten
    Nilsson, Torbjörn K
    School of Health and Medical Sciences; Örebro University; Örebro, Sweden; Department of Laboratory Medicine; Örebro University Hospital; Örebro, Sweden.
    DNA methylation pattern of the SLC25A43 gene in breast cancer2012Ingår i: Epigenetics, ISSN 1559-2294, E-ISSN 1559-2308, Vol. 7, nr 3, s. 300-306Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Solute carrier family 25A member 43 (SLC25A43) gene is a putative tumor suppressor gene that undergoes loss of heterozygosity (LOH) in human epidermal growth factor receptor 2 (HER2) positive breast cancer. Also, knockdown of SLC25A43 in cell lines influences cell turnover and metabolism. Absence of mutations in this gene in breast cancers prompted us to study methylation as an alternate mechanism for gene inactivation of this X encoded gene. Quantification of CpG site methylation using pyrosequencing was performed upstream of the SLC25A43 gene and at its 5' end in a cohort of breast tumor tissues (n = 80, HER2 positive or negative) with different SLC25A43 gene deletion status. Compared with control tissue, cancer tissues had lower levels of methylation at the 5' and 3' shores of the gene. Cancer tissues with no deletion in the SLC25A43 gene (Del (-)) had higher methylation in the CpG island (CGI) of the gene than cancers carrying the deletion (Del (+)). Methylation in the CGI of the SLC25A43 gene was negatively correlated with age at diagnosis. In HER2 positive breast cancer, ER negativity and lymph node positivity was associated with higher methylation in the CGI and in the adjacent shores of this gene. Our results suggest that methylation in the CGI of the SLC25A43 gene could be an alternate mechanism of gene silencing in the absence of LOH. Also, associations between site-specific methylation and clinicopathological parameters suggest that epigenetic changes in SLC25A43 gene could be of importance in breast carcinogenesis.

  • 56. Lokk, Kaie
    et al.
    Modhukur, Vijayachitra
    Rajashekar, Balaji
    Märtens, Kaspar
    Mägi, Reedik
    Kolde, Raivo
    Koltšina, Marina
    Nilsson, Torbjörn K
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Vilo, Jaak
    Salumets, Andres
    Tõnisson, Neeme
    DNA methylome profiling of human tissues identifies global and tissue-specific methylation patterns2014Ingår i: Genome Biology, ISSN 1465-6906, E-ISSN 1474-760X, Vol. 15, nr 4, s. r54-Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND: DNA epigenetic modifications, such as methylation, are important regulators of tissue differentiation, contributing to processes of both development and cancer. Profiling the tissue-specific DNA methylome patterns will provide novel insights into normal and pathogenic mechanisms, as well as help in future epigenetic therapies. In this study, 17 somatic tissues from four autopsied humans were subjected to functional genome analysis using the Illumina Infinium HumanMethylation450 BeadChip, covering 486 428 CpG sites. RESULTS: Only 2% of the CpGs analyzed are hypermethylated in all 17 tissue specimens; these permanently methylated CpG sites are located predominantly in gene-body regions. In contrast, 15% of the CpGs are hypomethylated in all specimens and are primarily located in regions proximal to transcription start sites. A vast number of tissue-specific differentially methylated regions are identified and considered likely mediators of tissue-specific gene regulatory mechanisms since the hypomethylated regions are closely related to known functions of the corresponding tissue. Finally, a clear inverse correlation is observed between promoter methylation within CpG islands and gene expression data obtained from publicly available databases. CONCLUSIONS: This genome-wide methylation profiling study identified tissue-specific differentially methylated regions in 17 human somatic tissues. Many of the genes corresponding to these differentially methylated regions contribute to tissue-specific functions. Future studies may use these data as a reference to identify markers of perturbed differentiation and disease-related pathogenic mechanisms.

  • 57. Löf-Öhlin, Zarah M
    et al.
    Levanat, Sonja
    Sabol, Maja
    Sorbe, Bengt
    Nilsson, Torbjörn K
    Departments of Laboratory Medicine and Clinical Chemistry, and Department of Biomedicine, School of Health and Medical Sciences, Örebro University, Örebro, Sweden.
    Promoter methylation in the PTCH gene in cervical epithelial cancer and ovarian cancer tissue as studied by eight novel Pyrosequencing® assays2011Ingår i: International Journal of Oncology, ISSN 1019-6439, Vol. 38, nr 3, s. 685-692Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    DNA methylation status in the CpG sites of promoter regions in cancer-related genes, such as PTCH, has traditionally been investigated using either dye-terminator sequencing or methylation-specific PCR. We aimed to study the PTCH gene promoter methylation in gynecological cancers, with a method that gives a quantitative measure of the methylation status of the promoter region of the studied gene, and for this purpose, we designed novel Pyrosequencing-based assays. Bisulfite-treated genomic DNA (bsDNA) was amplified by standard PCR and applied to novel Pyrosequencing® assays, in order to measure the methylated fraction (%) at each CpG site of the PTCH gene promoter. We analyzed 22 squamous cell cervical cancer tissue specimens (11 with good and 11 with poor outcomes after radiotherapy) and 5 ovarian cancer tissue specimens matched with 5 normal ovarian tissue specimens. Six optimized PCR protocols which generated 8 Pyrosequencing assays covering 63 CpG sites in the promoter regions 1 and 2 as well as the previously unanalyzed promoter region 3 in the PTCH gene were developed. The 27 tumor tissue specimens and 5 normal tissues did not show any methylation within any of the 63 CpG sites. Our data suggest that methylation of the PTCH promoter is not a high-prevalence feature of squamous cell cervical cancer or ovarian cancer, but Pyrosequencing assays are a good method for studying promoter methylation.

  • 58. Löf-Öhlin, Zarah M
    et al.
    Sorbe, Bengt
    Wingren, Sten
    Nilsson, Torbjörn K
    Department of Laboratory Medicine, Clinical Chemistry and School of Health and Medicine, Örebro University, Örebro, Sweden.
    Hypermethylation of promoter regions of the APC1A and p16INK4a genes in relation to prognosis and tumor characteristics in cervical cancer patients2011Ingår i: International Journal of Oncology, ISSN 1019-6439, Vol. 39, nr 3, s. 683-688Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Hypermethylation of the O6-MGMT, p14ARF, p16INK4a, RASSF1A and APC1A genes are unfavourable prognostic markers in colorectal cancer (CRC). We hypothesized that they could be related to prognosis also in cervical cancer. Methylation was studied in DNA extracts from surgical specimens of cancer tissue by novel pyrosequencing methods. In 109 patients (90 squamous cell carcinomas, 19 adenocarcinomas), we found that hypermethylation of the APC1A gene promoter occurred in 8.3% of patients, and of p16INK4a in 1.8%. APC1A hypermethylation was significantly related to more advanced FIGO stage of the tumor (P=0.013), larger tumor diameter (P=0.049) and distant recurrence-free survival (P=0.0007), but not with locoregional recurrence rate, age, HPV status, DNA ploidy, tumor grade or malignancy grading score. We conclude that methylation of the APC1A promoter in cervical cancer, as diagnosed by pyrosequencing, is significantly related to major biological characteristics of the tumor, and may be a new predictor of poor prognosis in cervical cancer.

  • 59. Makdoumi, Karim
    et al.
    Nilsson, Torbjörn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi. Faculty of Medicine and Health, Department of Biomedicine, Örebro University, Örebro, Sweden.
    Crafoord, Sven
    Levels of beta-trace protein in optic disc pit with macular detachment2017Ingår i: Acta Ophthalmologica, ISSN 1755-375X, E-ISSN 1755-3768, Vol. 95, nr 8, s. 815-819Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: To report beta-trace protein (bTP) levels in the subretinal fluid (SRF) of four patients with a macular detachment associated with optic disc pit (ODP).

    Methods: Four patients with a serous retinal detachment involving the macula was operated by pars plana vitrectomy (PPV) with C2F6 gas tamponade and peeling of internal limiting membrane (ILM). Patients with a follow-up period exceeding one year postoperatively were included in the study. The SRF was drained using a fine cannula without laser photocoagulation, and the samples were analysed using particle-enhancing nephelometry. The levels of bTP were compared to 20 routine cerebrospinal fluid (CSF) samples.

    Results: In four of the five samples from SRF had relatively low bTP levels, with a mean concentration of 6.6 mg/l (range 2.0 to 23.1 mg/l) compared to 16.0 mg/ l (range 6.3-26.8 mg/l) in CSF. The only SRF sample within the range corresponding to normal CSF was the first sample from patient 4, and the analysis of the renewed aspirate during the second operation was 2.8 mg/l. Postoperatively, the regression of SRF was slow, but regression of SRF in the foveal region took place in all cases; however, visual acuity (VA) was improved in only half of the patients.

    Conclusion: The results from the analysed SRF regarding bTP concentration in these patients indicate that the SRF in ODP is not identical to CSF, as the concentrations of bTP differ.

  • 60. Murto, Tiina
    et al.
    Kallak, Theodora K.
    Hoas, Annica
    Altmaee, Signe
    Salumets, Andres
    Nilsson, Torbjörn K
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap.
    Svanberg, Agneta Skoog
    Wanggren, Kjell
    Yngve, Agneta
    Stavreus-Evers, Anneli
    Folic acid supplementation and methylenetetrahydrofolate reductase (MTHFR) gene variations in relation to in vitro fertilization pregnancy outcome2015Ingår i: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 94, nr 1, s. 65-71Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Objective: To study folic acid intake, folate status and pregnancy outcome after infertility treatment in women with different infertility diagnoses in relation to methylenetetrahydrofolate reductase (MTHFR) 677C>T, 1298A>C and 1793G>A polymorphisms. Also the use of folic acid supplements, folate status and the frequency of different gene variations were studied in women undergoing infertility treatment and fertile women.

    Design: Observational study.

    Setting: University hospital.

    Population: Women undergoing infertility treatment and healthy, fertile, non-pregnant women.

    Methods: A questionnaire was used to assess general background data and use of dietary supplements. Blood samples were taken to determine plasma folate and homocysteine levels, and for genomic DNA extraction. A comparison of four studies was performed to assess pregnancy outcome in relation to MTHFR 677 TT vs. CC, and 1298 CC vs. AA polymorphisms.

    Main outcome measures: Folic acid supplement intake, and plasma folate, homocysteine and genomic assays.

    Results: Women in the infertility group used significantly more folic acid supplements and had better folate status than fertile women, but pregnancy outcome after fertility treatment was not dependent on folic acid intake, folate status or MTHFR gene variations.

    Conclusion: High folic acid intakes and MTHFR gene variations seem not to be associated with helping women to achieve pregnancy during or after fertility treatment.

  • 61. Murto, Tina
    et al.
    Skoog Svanberg, Agneta
    Yngve, Agneta
    Nilsson, Torbjörn K
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Altmäe, Signe
    Wånggren, Kjell
    Salumets, Andreas
    Stavreus-Evers, Anneli
    Folic acid supplementation and IVF pregnancy outcome in women with unexplained infertility2014Ingår i: Reproductive Biomedicine Online, ISSN 1472-6483, E-ISSN 1472-6491, Vol. 28, nr 6, s. 766-772Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Folic acid supplements are commonly used by infertile women which leads to a positive folate status. However, the effect of folic acid supplements on pregnancy outcome in women with unexplained infertility has not been well investigated. This study evaluated folic acid supplement use and folate status in women with unexplained infertility in relation to IVF pregnancy outcome. In addition, use of folic acid supplements and folate status were compared between women with unexplained infertility and fertile, nonpregnant control women. Women with unexplained infertility used significantly more folic acid supplements and had higher median total folic acid intake from supplements compared with fertile control women (both P < 0.001). Women with unexplained infertility also had significantly higher median plasma folate and lower median plasma homocysteine concentrations than fertile women (both P < 0.001), but folic acid supplementation or folate status were not related to pregnancy outcome in women with unexplained infertility. In conclusion, folic acid supplementation or good folate status did not have a positive effect on pregnancy outcome following infertility treatment in women with unexplained infertility.

  • 62.
    Nilsson, Torbjörn K
    Deparment of Laboratory Medicine, Örebro University Hospital, Örebro, Sweden.
    Stem cells as models in FASD research2010Ingår i: Journal of Pediatric Biochemistry, ISSN 1879-5390, Vol. 1, nr 3, s. 199-Artikel i tidskrift (Refereegranskat)
  • 63.
    Nilsson, Torbjörn K.
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap.
    Böttiger, Anna K.
    Henriquez, Patricia
    Serra Majem, Lluis
    MTHFR polymorphisms and serum cobalamin affect plasma homocysteine concentrations differentially in females and males2014Ingår i: Molecular Medicine Reports, ISSN 1791-2997, E-ISSN 1791-3004, Vol. 10, nr 5, s. 2706-2712Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    A total of 523 subjects (297 females and 226 males) from the Canary Islands Nutrition Study (ENCA) were studied in order to examine the effect of the MTHFR 677C>T, 1298A>C and 1793G>A polymorphisms, adjusted for age, serum (5)-folate and S-cobalamin levels, on total plasma homocysteine concentrations (tHcy). Genotyping was performed with Pyrosequencing(R) technology. The MTHFR 677T-allele was associated with increased tHcy concentrations only in males (P=0.005). The MTHFR 1298C-allele was found to be associated with higher tHcy levels but similarly, only in males (P=0.025). The MTHFR 1793A-allele was associated with decreased tHcy concentrations in the younger males (P=0.042). A haplotype-based approach was marginally superior in explaining the genetic interaction of the MTHFR polymorphisms on tHcy plasma levels (R-2 0.352 vs. 0.342 for a simple genotype-based approach). A nutrigenetic interaction between the MTHFR 677C>T genotype and S-cobalamin on tHcy levels was demonstrated in both genders. The increase in tHcy was more pronounced with decreasing S-cobalamin quintiles in 677TT homozygotes (P=0.005 for males and P=0.015 for females) than with decreasing S-folate quintiles (P for trend not significant). It was concluded that gene-nutrient interactions may differ depending on the sex and age of the subjects. The transferability of gene-nutrient interactions from one community to others may therefore be limited not only by different food patterns but also by different ages, genders and genotype distributions.

  • 64. Nilsson, Torbjörn K
    et al.
    Hagnelius, Nils Olof
    Folate in dementia and cognitive dysfunction2011Ingår i: Vitamins in the prevention of human diseases / [ed] Herrmann W, Obeid R, Walter de Gruyter, 2011, s. 125-141Kapitel i bok, del av antologi (Refereegranskat)
  • 65.
    Nilsson, Torbjörn K
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Hurtig-Wennlöf, Anita
    Sjostrom, Michael
    Herrmann, Wolfgang
    Obeid, Rima
    Owen, Jennifer R
    Zeisel, Steven
    Plasma 1-carbon metabolites and academic achievement in 15-yr-old adolescents2016Ingår i: The FASEB Journal, ISSN 0892-6638, E-ISSN 1530-6860, Vol. 30, nr 4, s. 1683-1688Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Academic achievement in adolescents is correlated with 1-carbon metabolism (1-CM), as folate intake is positively related and total plasma homocysteine (tHcy) negatively related to academic success. Because another 1-CM nutrient, choline is essential for fetal neurocognitive development, we hypothesized that choline and betaine could also be positively related to academic achievement in adolescents. In a sample of 15-yr-old children (n = 324), we measured plasma concentrations of homocysteine, choline, and betaine and genotyped them for 2 polymorphisms with effects on 1-CM, methylenetetrahydrofolate reductase (MTHFR) 677C>T, rs1801133, and phosphatidylethanolamine N-methyltransferase (PEMT), rs12325817 (G>C). The sum of school grades in 17 major subjects was used as an outcome measure for academic achievement. Lifestyle and family socioeconomic status (SES) data were obtained from questionnaires. Plasma choline was significantly and positively associated with academic achievement independent of SES factors (paternal education and income, maternal education and income, smoking, school) and of folate intake (P = 0.009, R-2 = 0.285). With the addition of the PEMT rs12325817 polymorphism, the association value was only marginally changed. Plasma betaine concentration, tHcy, and the MTHFR 677C>T polymorphism did not affect academic achievement in any tested model involving choline. Dietary intake of choline is marginal in many adolescents and may be a public health concern.

  • 66.
    Nilsson, Torbjörn K
    et al.
    Department of Laboratory Medicine, Clinical Chemistry, Örebro University Hospital, and School of Health and Medical Sciences, Örebro University.
    Laanpere, Margit
    Altmäe, Signe
    Serra-Majem, Lluís
    Salumets, Andres
    A folate receptor alpha double-mutated haplotype 1816delC-1841A is distributed throughout Eurasia and associated with lower erythrocyte folate levels2012Ingår i: Molecular Biology Reports, ISSN 0301-4851, E-ISSN 1573-4978, Vol. 39, nr 4, s. 4471-4478Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Folate is crucial for various cellular functions. Several transport mechanisms allow folate to enter the intracellular compartment with folate receptor-α being the major high-affinity receptor. Rare genetic variations in exons of the FR-α gene, FOLR1, were recently shown to cause severe folate deficiency accompanied by neurological and other disturbances. So far, similar effects by genetic variation in noncoding parts of the FOLR1 gene have not been identified. The aim of our study was to determine biochemically the haplotype structure of two linked polymorphisms in the FOLR1 gene, 1816delC and 1841G>A, the prevalences of the mutated alleles across Eurasia, and their possible effects on physiological folate levels in vivo. For this purpose we employed allele-specific PCR and Pyrosequencing technology and performed genotyping in 738 subjects from Spain, 387 from Sweden, 952 from Estonia, and 47 from Korea. We demonstrate the presence of an ancient double-mutated haplotype 1816delC-1841A in the FOLR1 gene, with the prevalence of the mutated allele being highest among Koreans (q = 0.074), lower in Estonians (q = 0.017), Spaniards (q = 0.0061), and the lowest among Swedes (q = 0.0026). Erythrocyte folate levels were studied in the Spanish population sample, where subjects carrying the double-mutated FOLR1 haplotype had significantly reduced levels by 27% (P = 0.039), adjusted for serum vitamin B(12) levels and MTHFR 677C>T genotype, while the mean serum folate levels were only 20% lower among the carriers (P = 0.11). Plasma homocysteine and cobalamin levels did not differ. Thus, we have demonstrated by molecular haplotyping an ancient double-mutated haplotype 1816delC-1841A in the FOLR1 gene, spread over the whole Eurasian continent, which may be of functional importance for uptake of folate in red blood cells.

  • 67.
    Nilsson, Torbjörn K
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi. Örebro University Hospital.
    Löf-Öhlin, Zarah M
    Sun, Xiao-Feng
    DNA methylation of the p14ARF, RASSF1A and APC1A genes as an independent prognostic factor in colorectal cancer patients2013Ingår i: International Journal of Oncology, ISSN 1019-6439, Vol. 42, nr 1, s. 127-33Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    We quantitated the methylated fraction of CpG sites in the promoter regions of O6-MGMT, p14ARF, p16INK4a, RASSF1A and APC1A in tumor tissue from patients with colorectal cancer (CRC) in order to determine if promoter hypermethylation of any of these genes predicts survival. DNA was isolated from 111 primary CRC and 46 matched normal colorectal mucosa samples from the same patients, obtained at primary surgery and DNA methylation was examined by Pyrosequencing®. Follow-up time was up to 20 years. Patients showed partial promoter methylation in the following frequencies: O6-MGMT, 34%; p14ARF, 29%; p16INK4a, 28%; RASSF1A, 14%; and APC1A, 27%. Normal mucosa was always unmethylated. CRC patients with methylated p14ARF gene promoter had significantly worse prognosis (p=0.036), whereas those with methylated O6-MGMT had significantly better prognosis through the first 60 months post-treatment (RR 0.36; p=0.023). Methylation of one or more of the genes from the set p14ARF, RASSF1A and APC1A, was significantly (p=0.021) associated with worse prognosis even adjusting for tumor stage and differentiation (RR 2.2, p=0.037). Thus, DNA methylation of the p14ARF, RASSF1A and APC1A genes, diagnosed by Pyrosequencing, defines a poor prognosis subset of CRC patients independently of both tumor stage and differentiation. O6-MGMT methylation may play a protective role.

  • 68.
    Nilsson, Torbjörn K
    et al.
    Department of Laboratory Medicine, Clinical Chemistry and School of Health and Medical Sciences, Örebro University, Örebro, Sweden.
    Yngve, Agneta
    Böttiger, Anna K
    Hurtig-Wennlöf, Anita
    Sjöström, Michael
    High folate intake is related to better academic achievement in Swedish adolescents2011Ingår i: Pediatrics, ISSN 0031-4005, E-ISSN 1098-4275, Vol. 128, nr 2, s. e358-e365Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND: Adolescents are vulnerable to increased plasma total homocysteine (tHcy) and to insufficient folate status. Folate status and Hcy metabolism are linked to cognitive functions, but academic achievement by adolescents has not been studied in this respect.

    OBJECTIVE: To assess a possible link between academic achievement in adolescents and tHcy and its determinants, dietary folate intake, MTHFR 677 TT homozygosity, and socioeconomic status (SES).

    SUBJECTS AND METHODS: A study of 386 Swedish adolescents aged 15 years in whom plasma tHcy and MTHFR 677C →T genotype were assayed. The sum of school grades in 10 core subjects obtained in the final semester of compulsory 9 years of schooling was used as outcome measure of academic achievement. Lifestyle and SES data were obtained from questionnaires.

    RESULTS: Academic achievement was strongly correlated to tertiles of tHcy (negatively; P = .023) and to tertiles of folate intake (positively; P < .001). Other significant predictors were gender, smoking, and SES (proxied by school, mother's education, and father's income). When these were controlled for, tertiles of folate intake (P < .002) but not tertiles of tHcy (P = .523) or MTHFR genotype remained significantly related to academic achievement.

    CONCLUSION: Folate intake had a positive association with academic achievement in the 15-year-olds, which was not attenuated by SES or MTHFR 677 TT homozygosity. These results provide new information that points to the importance of keeping a closer watch on folate status in childhood and adolescence. They may also have direct implications for school meal provisions, school teaching programs, and information to parents.

  • 69.
    Olsson, Lovisa A
    et al.
    Örebro University Hospital.
    Hagnelius, Nils-Olof
    Nilsson, Torbjörn
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap.
    Renal function is a determinant of subjective well-being in active seniors but not in patients with subjective memory complaints2014Ingår i: BMC Research Notes, ISSN 1756-0500, E-ISSN 1756-0500, Vol. 7, s. 647-Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND: During our whole life span, factors influencing health and functioning are accumulated. In chronic kidney disease, quality of life is adversely affected. We hypothesized that biomarkers of renal function could also be determinants of subjective well-being (SWB) in Swedish elderly subjects. SWB was assessed by the Psychological General Well-Being index (PGWB index) in two study groups: Active seniors (AS) consisted of community-dwelling elderly Swedes leading an active life (n = 389), and the DGM cohort (n = 300) consisted of subjects referred to the Memory Unit at the Department of Geriatrics for memory problems, Serum creatinine, cystatin C, and eGFR (CKD-EPI) were used as biomarkers of renal function.

    RESULTS: There were no significant differences in cystatin C and eGFR values between the two cohorts: cystatin C medians 0.88 vs 0.86 mg/L and eGFR 73 vs 80 mL/min/1.73 m2 (AS vs DGM). In the AS cohort cystatin C was negatively related to PGWB index in women (P < 0.001, R2 ≈ 5%), and the covariates age and BMI did not improve the models. The renal biomarkers were unrelated to the PGWB index in the DGM cohort. Cystatin C in the AS cohort was adversely related to the PGWB subdimensions anxiety, depressed mood, positive well-being, and vitality in women, but in men only to depressed mood (P < 0.006; R2 ≈ 6%). In the DGM cohort, depressed mood in men was also significantly related to cystatin C (P = 0.050), but not in women.

    CONCLUSIONS: Renal function even within the normal range, measured by serum cystatin C concentration, has significant and sex specific associations with subjective well-being and its subdimensions in healthy elderly subjects. Maintenance of good renal function in aging may be of importance in maintaining a high subjective well-being.

  • 70. Olsson, Lovisa A
    et al.
    Hagnelius, Nils-Olof
    Olsson, Henny
    Nilsson, Torbjörn K
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi. Örebro University.
    Subjective well-being in Swedish active seniors or seniors with cognitive complaints and its relation to commonly available biomarkers.2013Ingår i: Archives of gerontology and geriatrics (Print), ISSN 0167-4943, E-ISSN 1872-6976, Vol. 56, nr 2, s. 303-8Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Well-being (WB) is a complex variable in its relation to physical health and other personal and social characteristics. The aim was to study subjective well-being (SWB) and its possible associations with traditional biomarkers of cardiovascular risk or dementia, in Swedish seniors. SWB was estimated by the Psychological General Well-Being (PGWB) index in two study groups. The active seniors (AS) group consisted of community-dwelling elderly Swedes leading an active life (n=389). The DGM cohort (n=300) consisted of subjects referred to the Memory Unit at the Department of Geriatrics, the cognitive problems had to be subjective, mild or moderate (MMSE≥10). There were differences in all six subdimensions of SWB or distress, and in the sum of PGWB scores, between the two study groups (p<0.001 for all), and adjustment for differences in biomarkers of somatic health (age, sex, blood pressure, BMI, HDL cholesterol, ApoB/ApoA1 ratio, creatinine, and homocysteine) did not attenuate these differences. In addition, cognition as assessed by the Clock-Drawing Test (CDT) showed independent associations with four of the PGWB subdimensions and with the PGWB sum. Among the subjects in the DGM cohort, SWB was equally low among subjects with an MCI (minor cognitive impairment) diagnosis or without a dementia diagnosis as among subjects diagnosed with dementia disorder. We conclude that the nosological grouping variable (AS vs. DGM cohort) and a cognitive factor were the main independent predictors of SWB in this sample of elderly Swedes, whereas biomarkers of somatic health played a subordinated role.

  • 71. Olsson, Lovisa A.
    et al.
    Hurtig-Wennlof, Anita
    Nilsson, Torbjörn
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap.
    Subjective well-being in Swedish active seniors and its relationship with physical activity and commonly available biomarkers2014Ingår i: Clinical Interventions in Aging, ISSN 1176-9092, E-ISSN 1178-1998, Vol. 9, s. 233-239Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Physical activity is claimed to be related to well-being and to a lower risk of cardiovascular disease. Therefore, the possible associations of well-being with physical activity and biomarkers of somatic health were studied in a sample of Swedish active seniors to determine the strength of these associations.

    Methods: Three hundred and eighty-nine community-dwelling senior citizens (127 men and 262 women) of mean age 74 +/- 5 years were recruited for this cross-sectional population study. Serum samples were analyzed for lipoproteins and markers of inflammation. The Psychological General Well-Being (PGWB) index was used to measure subjective well-being. Physical activity was assessed by the International Physical Activity Questionnaire modified for the elderly.

    Results: More than 50% of men and women rated their physical activity as high; in the women, there was a significant difference between the age groups (younger and older than the median age [median =74.1 years], respectively). The mean PGWB index indicates a high degree of subjective well-being in this group of Swedish seniors. Of the PGWB subdimensions, general health had the strongest positive relationship with physical activity (r(2)=5.4%). for the subdimensions of depressed mood, positive well-being, vitality, and PGWB index, physical activity had an r(2)<= 4%, while the contributions of sex, age, and biomarkers were minor.

    Conclusion: We have estimated the contribution of physical activity to the variance of subjective well-being in active seniors. Physical activity appears to play a greater role as a determinant of subjective well-being than do biomarkers of somatic health, especially in females, but most of the variance remained unaccounted for by the studied variables.

  • 72. Pettersson-Pablo, P.
    et al.
    Nilsson, Torbjörn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Cao, Y.
    Breimer, L.
    Hurtig-Wennlof, A.
    Cluster analysis and risk score calculation of surrogate markers of vascular health, and their association with cardiometabolic risk factors in a healthy young adults2019Ingår i: Atherosclerosis, ISSN 0021-9150, E-ISSN 1879-1484, Vol. 287, s. E191-E191Artikel i tidskrift (Övrigt vetenskapligt)
  • 73.
    Pettersson-Pablo, Paul
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Nilsson, Torbjörn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Breimer, Lars H.
    Hurtig-Wennlof, Anita
    Body fat percentage is more strongly associated with biomarkers of low-grade inflammation than traditional cardiometabolic risk factors in healthy young adults: the Lifestyle, Biomarkers, and Atherosclerosis study2019Ingår i: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, E-ISSN 1502-7686, Vol. 79, nr 3, s. 182-187Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The primary aim was to appraise the relationship between body fat percentage and the inflammatory markers C-reactive protein (CRP) and orosomucoid in a population of young, non-smoking, healthy, Swedish adults, without any chronic diseases. A secondary aim was to compare whether these associations differed between the women using estrogen contraceptives and those who did not. We assessed the association in linear regression models between body fat percentage based on a bio-impedance measurement and plasma concentrations of CRP and orosomucoid in men and women aged 18-26 years, n = 834. Statistically significant associations were found between body fat percentage and both biomarkers of inflammation, with beta coefficients of 0.30 (95% CI 0.24-0.37) and 0.28 (0.22-0.35) for CRP and orosomucoid, respectively (p < .001). Adjustment for established risk factors marginally lowered the effects sizes (partial betas, 0.28 and 0.20, respectively), while the strong statistically significant associations remained. In the female cohort, estrogen and non-estrogen using subpopulations did not significantly differ in the correlations between body fat percentage and the inflammatory biomarkers, even adjusted for established cardiometabolic risk factors. In conclusion, in healthy young adults, higher levels of body fat percentage are associated with elevations in plasma biomarkers of inflammation, suggesting that a systemic inflammatory process, promoting atherosclerosis, may commence already at this early stage in life. CRP and orosomucoid plasma concentrations differed between users and non-users of estrogen contraceptives, but both subgroups showed similar correlations between increasing body fat percentage and increasing plasma concentrations of the biomarkers of inflammation.

  • 74. Simonsen, AH
    et al.
    Hagnelius, N-O
    Waldemar, G
    Nilsson, Torbjörn K
    Department of Laboratory Chemistry, Örebro University Hospital, 701 85 Örebro, Sweden.
    McGuire, J
    Protein markers for the differential diagnosis of vascular dementia and Alzheimer's disease2012Ingår i: International Journal of Proteomics, ISSN 2090-2166, E-ISSN 2090-2174, Vol. 2012, s. 824024-Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Alzheimer's disease (AD) is the most common form of dementia found in all human populations worldwide, while vascular dementia (VaD) is the second most common form of dementia. New biomarkers for early and specific diagnosis of AD and VaD are needed to achieve greater insight into changes occurring in the brain and direct therapeutic strategies. The objective of this explorative study was to discover candidate protein biomarkers for the differential diagnosis between VaD and AD. Surface-enhanced laser desorption/ionization (SELDI) TOF-MS was used to differentially profile proteins and peptides in CSF samples from 28 AD patients and 21 patients with VaD. A combination of univariate (Kruskal-Wallis) and multivariate (independent component analysis) statistical approaches produced a list of 27 proteins and peptides that could differentiate between VaD and AD. These markers represent various physiological processes, such as protein degradation (ubiquitin), protease inhibition (cystatin C and alpha-1-antichymoptrypsin), and inflammation (C3a and C4a) that are known to be represented in neurodegenerative diseases.

  • 75. Uggla, Bertil
    et al.
    Nilsson, Torbjörn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Whole blood viscosity in plasma cell dyscrasias2015Ingår i: Clinical Biochemistry, ISSN 0009-9120, E-ISSN 1873-2933, Vol. 48, nr 3, s. 122-124Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Objectives: Plasmaor serum hyperviscosity in plasma cell dyscrasias (PCD) has been described as a risk factor for circulatory disturbances. Whole blood viscosity (WBV) would theoretically be a better biomarker but has not been studied in PCD. Design and methods: Plasma viscosity (PV) and WBV were measured in 89 subjects with PCD and in 60 healthy blood donors by free oscillation rheometry. A complete blood count was obtained using an automated hematology analyzer. Plasma proteins were quantitated by immunoturbidimetry. Results: The reference intervals for men & women were 1.16-1.36 & 1.16-1.38 mPa for PV, and 4.9-6.3 & 4.4-6.2 mPa for WBV, respectively. Of the PCD patients, 71% had PV above the reference limit and 40% were above the WBV limit. Multivariate analysis showed that WBV was independently related to hematocrit, PV, concentration of the monoclonal protein (M-protein), plasma fibrinogen concentration and albumin concentration. This model accounted for 76% of the variance in WBV. When the same model was applied to PV, only the concentration of the M-protein was significantly related and the model accounted only for 20% of the variance in PV. Conclusion: PV cannot be used as a surrogate marker for WBV in PCD patients. Whole blood viscosity should replace plasma viscosity in patients with PCD.

  • 76. Valencia, Liliana
    et al.
    Randazzo, Andres
    Engfeldt, Peter
    Olsson, Lovisa A.
    Chavez, Adolfo
    Buckland, Robert J.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Nilsson, Torbjörn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Almon, Ricardo
    Identification of novel genetic variants in the mutational hotspot region 14kb upstream of the LCT gene in a Mexican population2017Ingår i: Scandinavian Journal of Clinical and Laboratory Investigation, ISSN 0036-5513, E-ISSN 1502-7686, Vol. 77, nr 5, s. 311-314Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Several polymorphic loci linked to lactase persistence (LP) have been described, all located in a small mutational hotspot region far upstream (approximate to 14kb) of the lactase (LCT) gene. One is typically found in Europeans, LCT -13910C>T, several others are found in East Africans and Arabs, e.g. LCT -13907C>G and LCT -13915T>G. The possibility of similar loci, specific to populations in South and Central America, has not received much attention so far. To identify possible novel polymorphisms in the mutational hotspot region, we sampled 158 subjects from a rural area in South-Central Mexico. DNA was isolated from serum, and Sanger sequencing of a 501bp region spanning the LCT -13910C>T hotspot was successfully performed in 150 samples. The frequency of the European-type LCT -13910T-allele was q=0.202, and 35% of the population was thus lactase-persistent (CT or TT). Sixteen novel genetic variants were found amongst 11 of the subjects, all were heterozygotes: seven of the subjects were also carriers of at least one LCT -13910T-allele. Thus, the mutational hotspot region is also a hotspot in the rural Mexican population: 11/150 subjects carried a total of 16 previously unknown private mutations but no novel polymorphism was found. The relationship between such novel genetic variants in Mexicans and lactase persistence is worthy of more investigation.

  • 77. Vymetalkova, Veronika
    et al.
    Vodicka, Pavel
    Pardini, Barbara
    Rosa, Fabio
    Levy, Miroslav
    Schneiderova, Michaela
    Liska, Vaclav
    Vodickova, Ludmila
    Nilsson, Torbjorn K.
    Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Klinisk kemi.
    Farkas, Sanja A.
    Epigenome-wide analysis of DNA methylation reveals a rectal cancer-specific epigenomic signature2016Ingår i: Epigenomics, ISSN 1750-1911, Vol. 8, nr 9, s. 1193-1207Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Aim: The aim of the present study is to address a genome-wide search for novel methylation biomarkers in the rectal cancer (RC), as only scarce information on methylation profile is available. Materials & methods: We analyzed methylation status in 25 pairs of RC and adjacent healthy mucosa using the Illumina Human Methylation 450 BeadChip. Results: We found significantly aberrant methylation in 33 genes. After validation of our results by pyrosequencing, we found a good agreement with our findings. The BPIL3 and HBBP1 genes resulted hypomethylated in RC, whereas TIFPI2, ADHFE1, FLI1 and TLX1 were hypermethylated. An external validation by TCGA datasets confirmed the results. Conclusion: Our study, with external validation, has demonstrated the feasibility of using specific methylated DNA signatures for developing biomarkers in RC.

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