Analysis of STAG3 variants in Chinese non-obstructive azoospermia patients with germ cell maturation arrest

Sci Rep. 2021 May 12;11(1):10077. doi: 10.1038/s41598-021-89559-9.

Abstract

STAG3 is essential for male meiosis and testis of male Stag3-/- mice shows the histopathological type of germ cell maturation arrest (MA). Whether variants of the STAG3 gene exist in Chinese idiopathic non-obstructive azoospermia (NOA) patients needs to be determined. We recruited 58 Chinese NOA men with MA who underwent testis biopsy and 192 fertile men as the control group. The 34 exons of the STAG3 gene were amplified using polymerase chain reaction (PCR) and sequenced. We identified eight novel single nucleotide polymorphisms (SNPs), including two missense SNPs (c.433T > C in exon2 and c.553A > G in exon3), three synonymous SNPs (c.539G > A, c.569C > T in exon3, and c.1176C > G in exon8), and three SNPs in introns. The allele and genotype frequencies of the novel and other SNPs have no significant differences between two groups. Our results indicated that variants in the coding sequence of the STAG3 gene were uncommon in NOA patients with MA in Chinese population. Future studies in large cohorts of different ethnic populations will be needed to determine the association between the STAG3 gene and NOA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Azoospermia / epidemiology
  • Azoospermia / genetics
  • Azoospermia / pathology*
  • Case-Control Studies
  • Cell Cycle Proteins / genetics*
  • China / epidemiology
  • Genetic Predisposition to Disease*
  • Genotype
  • Germ Cells / metabolism
  • Germ Cells / pathology*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide*
  • Spermatogenesis*

Substances

  • Cell Cycle Proteins
  • STAG3 protein, human

Supplementary concepts

  • Azoospermia, Nonobstructive