Genetic Variation of Methylenetetrahydrofolate Reductase (MTHFR) and Thymidylate Synthase (TS) Genes Is Associated with Idiopathic Recurrent Implantation Failure

The one-carbon metabolism pathway disorder was important role in successful pregnancy. The MTHFR and TS protein were crucial factor in one-carbon metabolism. To investigate the association between recurrent implantation failure (RIF) and enzymes in the one-carbon metabolism pathway. A total of 120 w...

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Bibliographic Details
Published in:PloS one 2016-08, Vol.11 (8), p.e0160884-e0160884
Main Authors: Choi, Youngsok, Kim, Jung Oh, Shim, Sung Han, Lee, Yubin, Kim, Ji Hyang, Jeon, Young Joo, Ko, Jung Jae, Lee, Woo Sik, Kim, Nam Keun
Format: Article
Language:English
Subjects:
Abortion
Abortion, Habitual - ethnology
Abortion, Habitual - genetics
Adult
Asian Continental Ancestry Group - genetics
Biology and Life Sciences
Cancer
Carbon
Deoxyribonucleic acid
DNA
DNA methylation
Embryo Implantation
Embryos
Enhancer Elements, Genetic - genetics
Enzymes
Female
Fertility
Gene Frequency
Gene polymorphism
Genes
Genetic diversity
Genetic Predisposition to Disease - ethnology
Genetic Predisposition to Disease - genetics
Genetic Variation
Genotype
Genotypes
Gynecology
Homocysteine
Humans
Implantation
In vitro fertilization
Infertility
Life sciences
Medical imaging
Medicine
Medicine and Health Sciences
Menstruation
Meta-Analysis as Topic
Metabolism
Methylenetetrahydrofolate reductase
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Obstetrics
Odds Ratio
Patients
Polymerase Chain Reaction
Polymorphism
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Pregnancy
Protein turnover
Republic of Korea
Restriction fragment length polymorphism
Risk factors
Thymidylate synthase
Thymidylate Synthase - genetics
Thyroid gland
Vitamin B
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Summary:The one-carbon metabolism pathway disorder was important role in successful pregnancy. The MTHFR and TS protein were crucial factor in one-carbon metabolism. To investigate the association between recurrent implantation failure (RIF) and enzymes in the one-carbon metabolism pathway. A total of 120 women diagnosed with RIF and 125 control subjects were genotyped for MTHFR 677C>T, 1298A>C, TSER 2R/3R and TS 1494del/ins by a polymerase chain reaction-restriction fragment length polymorphism assay. According to the gene-gene combination analysis, the MTHFR 677/MTHFR 1298 (TT/AA) and MTHFR 677/TS 1494 (TT/6bp6bp) genetic combinations were associated with relatively higher risks [adjusted odds ratio (AOR), 2.764; 95% CI, 1.065-7.174; P = 0.037 and AOR, 3.186; 95% CI, 1.241-8.178; P = 0.016] in RIF patients compared to the CC/AA (MTHFR 677/MTHFR 1298) and TT/6bp6bp (MTHFR 677/TS 1494) combinations, respectively. The results suggested that the combined MTHFR 677/MTHFR 1298 genotype might be associated with increased risk of RIF. To the best of our knowledge, this study is the first to elucidate the potential association of MTHFR, TS and TSER polymorphisms with RIF risk in Korean patients.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0160884