The correlation of rs4647269 and re1800734 SNPs in MLH1 gene with Iranian male infertility: Azospermia

Infertility and its problems are considered as one of the most important issues that affect 10-15% of couples. About half of all infertility is related to men. Human spermatogenesis depends on the activity of thousands of genes, and defects in repair mechanisms can stop spermatogenesis. One of the proteins involved in the repair system is the MLH1 protein. The aim of this study was to investigate the association of rs1800734 and rs4647269 polymorphisms in the MLH1 gene with male azoospermic infertility.

In this case-control study, blood samples were collected from 113 men with azoospermia infertility as a patient and 101 healthy men as a control. After DNA extraction, the genotypes of rs4647269 and rs1800734 polymorphisms were determined by RFLP-PCR method using HPYCH4IV and PVUII enzymes, respectively, and confirmed by sequencing.

In rs1800734 polymorphism, no significant difference (p <0.05) was observed between the genotypic frequency of the patient and control groups. There was a significant difference between genotypic frequencies between the two groups (P = 0.024), P = 0.021, P = 0.036) Also in this polymorphism in terms of sperm volume in traits (P = 0.000).

There is a significant relationship between rs4647269 rs polymorphism of MLH1 gene and azoospermia infertility in the study population of Iranian men and it can probably be effective in it.