期刊
HUMAN REPRODUCTION
卷 23, 期 5, 页码 1214-1219出版社
OXFORD UNIV PRESS
DOI: 10.1093/humrep/den065
关键词
polycystic ovary syndrome; small glutamine-rich tetratricopeptide repeat-containing; alpha; single nucleotide polymorphism; haplotype; association
资金
- NCRR NIH HHS [M01 RR000425-39, M01 RR000425, M01-RR00425] Funding Source: Medline
- NICHD NIH HHS [K24-HD01346, R01 HD029364, R01 HD029364-11, K24 HD001346-05, K24 HD001346, R01-HD29364] Funding Source: Medline
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.
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