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Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese

Aihua Gu1, Guixiang Ji, Xiangguo Shi

  • 1Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health, Nanjing Medical University, Nanjing, China.

Human Reproduction (Oxford, England)
|October 14, 2010
PubMed
Abstract

Insights

Genetic variations in Piwi genes are linked to male infertility. Specific polymorphisms in HIWI2 and HIWI3 influence the risk of oligozoospermia, suggesting a role for these genes in spermatogenic failure.

Area of Science:

  • Reproductive biology
  • Genetics
  • Human health

Background:

  • The Piwi gene subfamily is crucial for spermatogenesis, including germline stem cell maintenance and meiosis.
  • Mutations in mouse Piwi genes lead to sterility and distinct spermatogenic defects.
  • Piwi gene polymorphisms are hypothesized to be a risk factor for spermatogenic failure in humans.

Purpose of the Study:

  • To investigate the association between Piwi gene polymorphisms and spermatogenic failure in men.
  • To identify specific single nucleotide polymorphisms (SNPs) in Piwi genes that may contribute to idiopathic azoospermia or oligozoospermia.

Main Methods:

  • Genotyping of nine SNPs across four Piwi genes (PIWIL1, PIWIL2, PIWIL3, PIWIL4) in 490 patients with idiopathic azoospermia/oligozoospermia and 468 fertile controls.
  • Utilized SNPstream® 12-plex platform and Taqman method for SNP genotyping.
  • Performed haplotype and combined genotype analyses to assess cumulative effects.

Main Results:

  • An SNP in the 3' untranslated region of HIWI2 (rs508485) was associated with an increased risk of oligozoospermia (OR=1.49).
  • A non-synonymous SNP in HIWI3 (rs11703684) showed a reduced risk of oligozoospermia (OR=0.70).
  • A common HIWI2 haplotype also reduced oligozoospermia risk (OR=0.73), and a cumulative analysis revealed a significant trend of increased risk with more unfavorable genotypes (P<0.001).

Conclusions:

  • This study provides the first epidemiological evidence linking Piwi gene polymorphisms to spermatogenic failure in humans.
  • Specific genetic variations in HIWI2 and HIWI3 are associated with altered risks of oligozoospermia.
  • These findings highlight the potential role of Piwi gene variations in male infertility.

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