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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.MTHFRc.677C > T (rs1801133),MTHFRc.1298A > C (rs1801131),MTRc.2756A > G (rs1805087), andMTRRc.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) ofMTHFRc.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 theMTHFRc.1298A > C polymorphism is associated with an increased risk of male infertility, i.e., NOA. [ABSTRACT FROM PUBLISHER]

Citation Kim SY, Park SY, Choi JW, Kim DJ, Lee SY, Lim JH, Han JY, Ryu HM, Kim MH. Association between MTHFR 1298A>C polymorphism and spontaneous abortion with fetal chromosomal aneuploidy. Am J Reprod Immunol 2011; 66: 252-258 Problem Polymorphisms in genes involved in folate metabolism are commonly associated with defects in folate-dependent homocysteine metabolism, which can result in DNA hypomethylation and chromosome nondisjunction. This prospective study aimed to investigate the associations between MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, MTRR 66A>G, and CBS 844ins68 polymorphisms and spontaneous abortion (SA) with fetal chromosomal aneuploidy. Method of study Subjects included 33 SA with normal fetal karyotype, 24 SA with fetal chromosomal aneuploidy and 155 normal controls. Polymorphisms were genotyped by PCR-RFLP and QF-PCR analysis. Results The frequencies of MTHFR 1298AC and combined 1298AC/CC genotypes were higher in SA with fetal chromosomal aneuploidy than in controls. The 1298C allele frequency was also significantly higher in SA with fetal chromosomal aneuploidy than in controls. Moreover, the 1298C allele frequency was higher in SA with fetal chromosomal aneuploidy than in SA with normal fetal karyotype. The combined 1298AC/CC genotype was significantly associated with the risk of SA with fetal chromosomal aneuploidy compared with that of the 1298AA genotype (adjusted OR = 2.93, 95% CI: 1.11-7.69). There was no association between SA with fetal chromosomal aneuploidy and other polymorphisms. Conclusions Our findings indicate that MTHFR 1298A>C polymorphism may be an independent risk factor for SA with fetal chromosomal aneuploidy. [ABSTRACT FROM AUTHOR]

Abstract: Catechol-O-methyltransferase (COMT) and monoamine oxidase A (MAOA) are both involved in the degradation of various biogenic amines which have been hypothesized to have a relationship with personality traits. The present study investigated the possible relationships between the genotypes of COMT Val158Met and MAOA-uVNTR polymorphisms and personality traits measured by the Temperament and Character Inventory (TCI). We recruited 286 normal, unrelated Korean subjects (138 males and 148 females). There were no associations between the COMT Val158Met genotypes or the TCI subscales in the male subjects. However, a significant correlation was observed between the COMT genotype and harm avoidance (HA, F =6.0, p =0.003) in females. Post hoc analyses showed that the subjects with the Met/Met genotype had the lowest mean HA (HA=13.8±5.7, p =0.02), Val/Met group had an intermediate mean HA score (HA=16.3±7.0, p =0.02), and Val/Val group had the highest mean HA value (HA=19.6±7.0, p =0.02). There were no associations between the MAOA-uVNTR and the TCI subscales in either the male or female subjects. These results suggest that genetic variants of the COMT Val158Met gene may play a role in HA in Korean females but not in males. [Copyright &y& Elsevier]