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Variations in folate pathway genes are associated with unexplained female infertility
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2010 (Engelska)Ingår i: Fertility and Sterility, ISSN 0015-0282, E-ISSN 1556-5653, Vol. 94, nr 1, s. 130-137Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

OBJECTIVE: To investigate associations between folate-metabolizing gene variations, folate status, and unexplained female infertility.

DESIGN: An association study.

SETTING: Hospital-based IVF unit and university-affiliated reproductive research laboratories.

PATIENT(S): Seventy-one female patients with unexplained infertility.

INTERVENTION(S): Blood samples for polymorphism genotyping and homocysteine, vitamin B12, and folate measurements.

MAIN OUTCOME MEASURE(S): Allele and genotype frequencies of the following polymorphisms: 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C/T, 1298A/C, and 1793G/A, folate receptor 1 (FOLR1) 1314G/A, 1816delC, 1841G/A, and 1928C/T, transcobalamin II (TCN2) 776C/G, cystathionase (CTH) 1208G/T and solute carrier family 19, member 1 (SLC19A1) 80G/A, and concentrations of plasma homocysteine, vitamin B12, and serum folate.

RESULT(S): MTHFR genotypes 677CT and 1793GA, as well as 1793 allele A were significantly more frequent among controls than in patients. The common MTHFR wild-type haplotype (677, 1298, 1793) CAG was less prevalent, whereas the rare haplotype CCA was more frequent in the general population than among infertility patients. The frequency of SLC19A1 80G/A genotypes differed significantly between controls and patients and the A allele was more common in the general population than in infertile women. Plasma homocysteine concentrations were influenced by CTH 1208G/T polymorphism among infertile women.

CONCLUSION(S): Polymorphisms in folate pathway genes could be one reason for fertility complications in some women with unexplained infertility.

Ort, förlag, år, upplaga, sidor
2010. Vol. 94, nr 1, s. 130-137
Nationell ämneskategori
Reproduktionsmedicin och gynekologi
Identifikatorer
URN: urn:nbn:se:umu:diva-79792DOI: 10.1016/j.fertnstert.2009.02.025ISI: 000278858200022PubMedID: 19324355OAI: oai:DiVA.org:umu-79792DiVA, id: diva2:644876
Tillgänglig från: 2013-09-02 Skapad: 2013-09-02 Senast uppdaterad: 2018-06-08Bibliografiskt granskad

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Nilsson, Torbjörn K

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Fertility and Sterility
Reproduktionsmedicin och gynekologi

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