ArticleBMC medicine2012
Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility.
Article in BMC medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.
- The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- Risk of non-reproductive cancer in men from couples conceiving through assisted reproduction: a Swedish nation-based register study.European journal of epidemiology · 2026Article
- Is Male Infertility an Early Warning of More Serious Diseases?Endocrinology · 2026Review
- The Potential Role of Deubiquitinating Enzymes (DUBs) in Male Fertility.Biomolecules · 2026Review
- Risk of mortality in family members of men seeking fertility assessment.Fertility and sterility · 2025Article
- Significantly increased load of hereditary cancer-linked germline variants in infertile men.Human reproduction open · 2025Article
- Perspective in the Mechanisms for Repairing Sperm DNA Damage.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.Basic and clinical andrology · 2024Article
- Male Fertility as a Proxy for Health.Journal of clinical medicine · 2024Review
- Radiotherapy and Testicular Function: A Comprehensive Review of the Radiation-Induced Effects with an Emphasis on Spermatogenesis.Biomedicines · 2024Review
- Describing patterns of familial cancer risk in subfertile men using population pedigree data.Human reproduction (Oxford, England) · 2024Article
- Frequency, morbidity and equity - the case for increased research on male fertility.Nature reviews. Urology · 2024Review
- Infertility as a Proxy of Men's Health: Still a Long Way to Go.Urology research & practice · 2023Article
- Review
- Male infertility and somatic health - insights into lipid damage as a mechanistic link.Nature reviews. Urology · 2022Review
- Review
- Population genetic characteristics of Hainan medaka with whole-genome resequencing.Frontiers in genetics · 2022Article
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
- Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.Nature communications · 2021Article
- Sperm Functional Genome Associated With Bull Fertility.Frontiers in veterinary science · 2021Review
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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.
methodsWe 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.
resultsOne 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.
conclusionsOur results provide evidence supporting the involvement of genetic polymorphisms in MMR genes in the aetiology of male infertility.
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