rs1800734: a risk allele for nonobstructive azoospermia related to maturation arrest

Background: Male infertility is increasingly being conceived as a biomarker of general male health status other than being a significant reproductive health issue. Nonobstructive azoospermia (NOA) patients have the worst health status impairment as well as highest risk of developing cancer. It’s well known that cancer susceptibility gene, MLH1 have roles in homologous recombination during meiosis. Mlh1 mutant mice have azoospermia with meiotic arrest. Aim: We aimed to identify risk alleles in MLH1 gene in males with nonobstructive azoospermia related maturation arrest (MA) to investigate further whether this cancer susceptibility gene is also related to male infertility. Patients and Methods: MLH1 variants were genotyped in 42 patients with MA. The variants of interest then compared to GnomAD v.3.1.2 (non-cancer) male population database and to the repository exome data of a national genetic disease evaluation center (NGDEC). Results: rs1800734 allele frequencies were significantly higher in the patient group compared to GnomAD (p