Journal
FERTILITY AND STERILITY
Volume 94, Issue 1, Pages 130-137Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.fertnstert.2009.02.025
Keywords
Female infertility; homocysteine; MTHFR; FOLR1; TCN2; CTH; SLC19A1
Categories
Funding
- European Union
- Centre of Excellence in Genomics, Estonian Biocentre and Tartu University
- Estonian Ministry of Education and Science [0182641s04, PBGMR07903]
- Estonian Science Foundation [6498]
- Spanish Ministry of Education [EX-2007-1124]
- Swedish Research Council [2005-7293]
- Swedish Society of Medicine
- Magn. Bergvalls Foundation
- Goljes Foundation
- Ake Wibergs Foundation
- Nyckelfonden, Orebro
- Karolinska Institutet
- County Council of Stockholm and Orebro
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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.)
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