@misc{10481/101058,
year = {2010},
month = {6},
url = {https://hdl.handle.net/10481/101058},
abstract = {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 mea- surements.
MainOutcomeMeasure(s): Alleleandgenotypefrequenciesofthefollowingpolymorphisms: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 prev- alent, 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},
title = {Variations in folate pathway genes are associated with unexplained female infertility},
doi = {10.1016/j.fertnstert.2009.02.025},
author = {Stavreus-Evers, Anneli and Laanpere, Margit and Syvänen, Tiina and Yngve, Agneta and Salumets, Andres and Nilsson, Torbjörn K. and Altmäe, Signe and Ruiz Ruiz, Jonatan},
}