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

Title
Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition
Authors
Hwang J.-Y.Lee E.-J.Jin Go M.Sung Y.-A.Lee H.J.Heon Kwak S.Jang H.C.Soo Park K.Lee H.-J.Byul Jang H.Song J.Park K.-H.Kim H.-L.Cho M.-C.Lee J.-Y.
Ewha Authors
김형래성연아이혜진
SCOPUS Author ID
김형래scopus; 성연아scopus; 이혜진scopus
Issue Date
2012
Journal Title
Journal of Human Genetics
ISSN
1434-5161JCR Link
Citation
vol. 57, no. 10, pp. 660 - 664
Indexed
SCI; SCIE; SCOPUS WOS scopus
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. © 2012 The Japan Society of Human Genetics All rights reserved.
DOI
10.1038/jhg.2012.92
Appears in Collections:
의과대학 > 의학과 > Journal papers
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