PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility

J Assist Reprod Genet. 2019 Apr;36(4):759-768. doi: 10.1007/s10815-019-01417-w. Epub 2019 Mar 13.


Purpose: Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. A previous Chinese genome-wide single-nucleotide polymorphism (SNP) association studies have identified four SNPs (rs12097821 in PRMT6 gene, rs2477686 in PEX10 gene, rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene) as being significantly associated with risk factors for nonobstructive azoospermia (NOA). However, the results were not fully repeated in later studies, which calls for further investigations.

Methods: We here performed a case-control study in a central Chinese population to explore the association between the four SNPs and male infertility, which included 631 infertile men (NOA and oligozoospermia) and 720 healthy fertile men. The genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism and confirmed by sequencing.

Results: The results showed that rs12097821 and rs10842262 were strongly associated with the risk of NOA but not total male infertility or oligozoospermia, while rs2477686 and rs6080550 were not associated with the risk of total male infertility, NOA, or oligozoospermia. To improve the statistical strength, a meta-analysis was conducted. The results suggested that rs2477686, rs6080550, and rs10842262 were significantly associated with male infertility, especially with NOA, while rs12097821 was only found to be associated with total male infertility.

Conclusions: Collectively, the rs2477686, rs6080550, and rs10842262 may indeed be the genetic risk factors for NOA, which requires further investigation using larger independent sets of samples in different ethnic populations.

Keywords: Han Chinese; Male infertility; Meta-analysis; Single-nucleotide polymorphism (SNP).

MeSH terms

  • Adult
  • Antigens, Differentiation / genetics*
  • Azoospermia / genetics*
  • Azoospermia / pathology
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Infertility, Male
  • Male
  • Peroxins / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Receptors, Immunologic / genetics*
  • SOXD Transcription Factors / genetics*


  • Antigens, Differentiation
  • PEX10 protein, human
  • Peroxins
  • Receptors, Cytoplasmic and Nuclear
  • Receptors, Immunologic
  • SIRPA protein, human
  • SOX5 protein, human
  • SOXD Transcription Factors

Supplementary concepts

  • Azoospermia, Nonobstructive