Association of the Role MTHFR 677C>T and 1298A>C polymorphisms variants as the risk factor with human male infertility.

Barakat, Lamiaa Abdelateaf; Youssef, Youssef El-Bayoumi; Ramzy, Atef Elsayed; Elsaid, Afaf M. Mohamed

doi:10.21608/ajbas.2023.246552.1196

Association of the Role MTHFR 677C>T and 1298A>C polymorphisms variants as the risk factor with human male infertility.

Document Type : Original Article

Authors

¹ Prof. of Biochemistry Faculty of Science Port-Said University

² Prof of Dermatology, Andrology and STDs Faculty of Medicine Mansoura University

³ M.Sc. (Chemistry), Department of Bio-Chemistry, Faculty of Science, Port-said University

⁴ Professor of Biochemistry and molecular biology- Faculty of Medicine-Children-Hospital Mansoura University

10.21608/ajbas.2023.246552.1196

Abstract

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.

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