The aim of the current study was to investigate the association between male infertility and the MTHFR (677C > T; 1298A > C), polymorphisms in a Egyptian population. We conducted a case-control study in Mansoura University Egypt .This study included 100 cases with infertility and 100 healthy controls. We used T.ARMS-PCR methods to assess the genotypes of MTHFR, (677C > T; 1298A > C) variants of the gene and analysis of hormones level in serum by Elisa method.

The Results we obtained Genotypic and allelic frequencies of MTHFR*C677T (rs1801133) variant among infertile patients compared with healthy controls were significant. infertile patients revealed significantly increased in C/T and TT of MTHFR*C677T genotype compared with healthy controls as respectively (56.7% vs. 40% and 43% vs. 0% ) , the Dominant model (OR148.5, 95% CI 19.89-1108.4, p <0.001). the frequency of the MTHFR*C677T, T allele was significantly increased among infertile patients compared with healthy controls (71 % vs. 20%, OR152.1, 95% CI 9.19-2516.8, p< 0.001).

On the contrary, regarding the codominant and Recessive, heterozygote and homozygote models, infertile men patients indicated significantly decreased compared to healthy controls (p< 0.001). The 1298A/C polymorphism was associated with risk of male infertility ,the frequencies of homozygote genotype CC in fertile patients compared to healthy group was significantly increased to AA genotype (P < 0.001), , CA to the AA (P = 0.006), CC to the CA + AA (P < 0.001), and CC + CA to the AA (P < 0.001) genotype was significantly different.