umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics. EMV, Immunology, BMC, Lund University, SE-221 00 Lund, Sweden.
Department of Medicine, Sunderby Hospital, SE-971 80 Luleå, Sweden.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine. Department of Medicine, Sunderby Hospital, SE-971 80 Luleå, Sweden. (Sunderby Research Unit ; Arcum)
Show others and affiliations
2016 (English)In: BMC Medical Genetics, ISSN 1471-2350, E-ISSN 1471-2350, Vol. 17, no 1, 70Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: T1D and AITD are autoimmune disorders commonly occurring in the same family and even in the same individual. The genetic contribution to these disorders is complex making uncovering of susceptibility genes very challenging. The general aim of this study was to identify loci and genes contributing to T1D/AITD susceptibility. Our strategy was to perform linkage and association studies in the relatively genetically homogenous population of northern Sweden. We performed a GWLS to find genomic regions linked to T1D/AITD in families from northern Sweden and we performed an association study in the families to test for association between T1D/AITD and variants in previously published candidate genes as well as a novel candidate gene, CD247.

METHODS: DNA prepared from 459 individuals was used to perform a linkage and an association study. The ABI PRISM Linkage Mapping Set v2.5MD10 was employed for an initial 10-cM GWLS, and additional markers were added for fine mapping. Merlin was used for linkage calculations. For the association analysis, a GoldenGate Custom Panel from Illumina containing 79 SNPs of interest was used and FBAT was used for association calculations.

RESULTS: Our study revealed linkage to two previously identified chromosomal regions, 4q25 and 6p22, as well as to a novel chromosomal region, 1q23. The association study replicated association to PTPN22, HLA-DRB1, INS, IFIH1, CTLA4 and C12orf30. Evidence in favor of association was also found for SNPs in the novel susceptibility gene CD247.

CONCLUSIONS: Several risk loci for T1D/AITD identified in published association studies were replicated in a family material, of modest size, from northern Sweden. This provides evidence that these loci confer disease susceptibility in this population and emphasizes that small to intermediate sized family studies in this population can be used in a cost-effective manner for the search of genes involved in complex diseases. The linkage study revealed a chromosomal region in which a novel T1D/AITD susceptibility gene, CD247, is located. The association study showed association between T1D/AITD and several variants in this gene. These results suggests that common susceptibility genes act in concert with variants of CD247 to generate genetic risk for T1D/AITD in this population

Place, publisher, year, edition, pages
2016. Vol. 17, no 1, 70
Keyword [en]
Linkage, Association, Family, Type 1 diabetes, Autoimmune thyroid disease
National Category
Clinical Medicine
Identifiers
URN: urn:nbn:se:umu:diva-127025DOI: 10.1186/s12881-016-0333-zPubMedID: 27716086OAI: oai:DiVA.org:umu-127025DiVA: diva2:1040008
Available from: 2016-10-26 Created: 2016-10-26 Last updated: 2016-12-19Bibliographically approved

Open Access in DiVA

fulltext(1308 kB)28 downloads
File information
File name FULLTEXT01.pdfFile size 1308 kBChecksum SHA-512
34e38b7cb37eba9d73793b50a426d93f3b57980c62b2e551d1d75577829f7cc0832e418e16a34de35b395c147847be9a729c834b28bddb1f2e8820e3035c2fa4
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Holmberg, DanLindgren, PetterEliasson, MatsMayans, Sofia
By organisation
Medical and Clinical GeneticsMedicineImmunology/Immunchemistry
In the same journal
BMC Medical Genetics
Clinical Medicine

Search outside of DiVA

GoogleGoogle Scholar
Total: 28 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 170 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf