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Variations in folate pathway genes are associated with unexplained female infertility
Div Obstet & Gynecol,Karolinska Inst, Stockholm, Sweden; Dept Clin Sci Intervent & Technol, Huddinge Hosp, Karolinska Univ, Huddinge, Sweden.
Dept Womens & Childrens Hlth, Akad Sjukhuset, Uppsala Univ, Uppsala, Sweden.
Dept Biosci & Nutr, Unit Prevent Nutr, Karolinska Inst, Stockholm, Sweden.
Inst Mol & Cell Biol, Dept Biotechnol, Univ Tartu, Tartu, Estonia.
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2010 (English)In: Fertility and Sterility, ISSN 0015-0282, E-ISSN 1556-5653, Vol. 94, no 1, p. 130-137Article in journal (Refereed) 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-methylenetetra-hydrofolate 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. (Fertil Steril (R) 2010;94:130-7. (C) 2010 by American Society for Reproductive Medicine.)

Place, publisher, year, edition, pages
2010. Vol. 94, no 1, p. 130-137
Keywords [en]
Female infertility, homocysteine, MTHFR, FOLR1, TCN2, CTH, SLC19A1
National Category
Nutrition and Dietetics
Research subject
Nutrition; Culinary Arts and Meal Science
Identifiers
URN: urn:nbn:se:oru:diva-30599DOI: 10.1016/j.fertnstert.2009.02.025ISI: 000278858200022OAI: oai:DiVA.org:oru-30599DiVA, id: diva2:648174
Available from: 2013-09-13 Created: 2013-09-02 Last updated: 2018-09-13Bibliographically approved

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Yngve, Agneta

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