Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition

Joo Yeon Hwang, Eun Ju Lee, Min Jin Go, Yeon Ah Sung, Hye Jin Lee, Soo Heon Kwak, Hak C. Jang, Kyung Soo Park, Hye Ja Lee, Han Byul Jang, Jihyun Song, Kyung Hee Park, Hyung Lae Kim, Myeong Chan Cho, Jong Young Lee

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

To investigate the role of genetic predisposition in the pathogenesis of polycystic ovary syndrome (PCOS) in relation to obesity, we performed a genome-wide association study of PCOS in Koreans (n1741). PCOS is a heterogeneous endocrinal disorder of uncertain etiology. Obesity is one of the well-known risk factors for PCOS. Genome-wide association study. Women with or without PCOS. A total of 1881 samples were genotyped using Illumina HumanOmni1 Quad v1 and processed by R packages. The PCOS patients were divided into two subgroups according to PCOS diagnostic criteria (Rotterdam and National Institutes of Health (NIH)). For PCOS-associated loci in the two definitions, we successfully confirmed significant associations of GYS2 for body mass index in the discovery stage. We further replicated pleiotropic associations of GYS2 in a childhood obesity study (n482) and in a gestational diabetes study (n1710), respectively. Our study provides a preliminary framework upon diverse genetic effects underlying PCOS in Korean women. A newly identified GYS2 gene as a predisposing factor of PCOS might expand understanding of the biological pathways in metabolic and endocrine regulation.

Original languageEnglish
Pages (from-to)660-664
Number of pages5
JournalJournal of Human Genetics
Volume57
Issue number10
DOIs
StatePublished - Oct 2012

Keywords

  • GWAS
  • obesity
  • PCOS
  • pleiotropic effect

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