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Background  The mismatch repair (MMR) pathway plays an important role in the maintenance of the genome integrity, meiotic recombination and gametogenesis. This study investigated whether genetic variations in MMR genes are associated with an increased risk of sperm DNA damage and male infertility.    Methods  We selected and genotyped 21 tagging single nucleotide polymorphisms (SNPs) in five MMR genes ( MLH1, MLH3, PMS2, MSH4  and  MSH5 ) using the SNPstream 12-plex platform in a case-control study of 1,292 idiopathic infertility patients and 480 fertile controls in a Chinese population. Sperm DNA damage levels were detected with the Tdt-mediated dUTP nick end labelling (TUNEL) assay in 450 cases. Fluorescence resonance energy transfer (FRET) and co-immunoprecipitation techniques were employed to determine the effects of functional variants.    Results  One intronic SNP in  MLH1  (rs4647269) and two non-synonymous SNPs in  PMS2  (rs1059060, Ser775Asn) and  MSH5  (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. Meanwhile, we also identified a possible contribution of  PMS2  rs1059060 to the risk of male infertility with normal sperm count. Among patients with normal sperm count,  MLH1  rs4647269 and  PMS2  rs1059060 were associated with increased sperm DNA damage. Functional analysis revealed that the  PMS2  rs1059060 can affect the interactions between MLH1 and PMS2.    Conclusions  Our results provide evidence supporting the involvement of genetic polymorphisms in MMR genes in the aetiology of male infertility.

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility