Journal
JOURNAL OF HUMAN GENETICS
Volume 57, Issue 10, Pages 660-664Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2012.92
Keywords
GWAS; obesity; PCOS; pleiotropic effect
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Funding
- Korea Centers for Disease Control and Prevention [4845-301]
- Korea National Institute of Health [2010-N73002-00]
- Korea Health Promotion Institute [2010-N73002-00] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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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 (n = 1741). 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 (n = 482) and in a gestational diabetes study (n = 1710), 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. Journal of Human Genetics (2012) 57, 660-664; doi:10.1038/jhg.2012.92; published online 6 September 2012
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