• PMID: 26196053
• Gene Name: MTR
• Condition: Non-obstructive azoospermia (NOA), Male infertility
• Association: There were significant differences in AC + CC genotype and C allele frequencies of MTHFR c.1298A > C polymorphism between NOA patients and controls after applying the Bonferroni correction. Moreover, the 1298AC genotype, 1298AC + CC genotype, and 1298C a
• Mutation: MTHFR c.677C > T (rs1801133), MTHFR c.1298A > C (rs1801131), MTR c.2756A > G (rs1805087), and MTRR c.66A > G (rs1801394)
• Population size: 331
• Population details: 331 (85 infertile men with NOA, 246 fertile men as controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: MTHFR, MTR, MTRR
• Other associated phenotypes: Non-obstructive azoospermia (NOA), Male infertility

Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia

Kim SY, Lim JW, Kim JW, Park SY, Seo JT.

Polymorphisms in the genes encoding enzymes in the folate metabolism pathway have been associated with male infertility and chromosome abnormalities. The aim of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) polymorphisms in fertile men and infertile men with non-obstructive azoospermia (NOA). A case-control study comprising 85 infertile men with NOA and 246 fertile men as controls was carried out. MTHFR c.677C > T (rs1801133), MTHFR c.1298A > C (rs1801131), MTR c.2756A > G (rs1805087), and MTRR c.66A > G (rs1801394) polymorphisms were determined using the polymerase chain reaction restriction fragment length polymorphism technique. There were significant differences in AC + CC genotype (OR = 1.9, 95% CI = 1.1-3.2) and C allele frequencies (OR = 1.8, 95% CI = 1.2-2.8) of MTHFR c.1298A > C polymorphism between NOA patients and controls after applying the Bonferroni correction. Moreover, the 1298AC genotype, 1298AC + CC genotype, and 1298C allele frequencies were statistically significant in NOA with chromosomal abnormalities and/or a Y chromosome deletion compared to the controls (AC genotype: OR = 3.0; AC + CC genotype: OR = 3.0; C allele: OR = 2.3). Considering the other polymorphisms, no differences were found between cases and controls. Our findings suggest the MTHFR c.1298A > C polymorphism is associated with an increased risk of male infertility, i.e., NOA. FAU - Kim, Shin Young AU - Kim SY AD - a Laboratory of Medical Genetics , Medical Research Institute, Cheil General Hospital and Women's Healthcare Center , Seoul , Korea . FAU - Lim, Jung Wook AU - Lim JW AD - b Hanyang University College of Medicine , Seoul , Korea , and. FAU - Kim, Jin Woo AU - Kim JW AD - a Laboratory of Medical Genetics , Medical Research Institute, Cheil General Hospital and Women's Healthcare Center , Seoul , Korea . FAU - Park, So Yeon AU - Park SY AD - a Laboratory of Medical Genetics , Medical Research Institute, Cheil General Hospital and Women's Healthcare Center , Seoul , Korea .