Small glutamine-rich tetratricopeptide repeat-containing protein alpha (SGTA), a candidate gene for polycystic ovary syndrome

M. O. Goodarzi, N. Xu, J. Cui, X. Guo, Y. I. Chen, R. Azziz

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

BACKGROUND: Polycystic ovary syndrome (PCOS) is a heterogenic, complex common genetic disease. Multiple pathways are involved in its pathogenesis, including the androgen signaling pathway and insulin signaling pathway. Small glutamine-rich tetratricopeptide repeat-containing protein alpha (SGTA) is a putative member of the androgen receptor-chaperone-co-chaperone complex, and may play a role in androgen signaling as a co-chaperone. Polymorphisms in the SGTA gene have not been evaluated for a role in PCOS. METHODS: Women with and without PCOS (287 cases, 187 controls) were genotyped for three single nucleotide polymorphisms (SNPs) in SGTA. SNPs and haplotypes were determined and tested for association with PCOS and component traits of PCOS. RESULTS: For SNP rs1640262, homozygotes for the minor allele were protected against PCOS (P = 0.009). Haplotype 1 (G-A-T) was associated with increased risk of PCOS (P = 0.015). In women with PCOS, haplotype 2 (A-G-C) was associated with increased insulin resistance (P = 0.013), consequently resulting in increased insulin secretion (P = 0.014). CONCLUSIONS: This study presents genetic evidence suggesting a potential role of SGTA in the pathogenesis of PCOS. SGTA may provide a connection between multiple pathways in PCOS.

Original languageEnglish (US)
Pages (from-to)1214-1219
Number of pages6
JournalHuman Reproduction
Volume23
Issue number5
DOIs
StatePublished - May 2008

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Keywords

  • Association
  • Haplotype
  • Polycystic ovary syndrome
  • Single nucleotide polymorphism
  • Small glutamine-rich tetratricopeptide repeat-containing, alpha

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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