title: Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition.
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 (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.
authors.affiliation: Center for Genome Science, National Institute of Health, Osong Health Technology Administration complex, Chungcheongbuk-do, Republic of Korea.
authors.forename: Joo-Yeon
authors.initials: JY
authors.lastname: Hwang
authors.forename: Eun-Ju
authors.initials: EJ
authors.lastname: Lee
authors.forename: Min
authors.initials: M
authors.lastname: Jin Go
authors.forename: Yeon-Ah
authors.initials: YA
authors.lastname: Sung
authors.forename: Hye Jin
authors.initials: HJ
authors.lastname: Lee
authors.forename: Soo
authors.initials: S
authors.lastname: Heon Kwak
authors.forename: Hak C
authors.initials: HC
authors.lastname: Jang
authors.forename: Kyung
authors.initials: K
authors.lastname: Soo Park
authors.forename: Hye-Ja
authors.initials: HJ
authors.lastname: Lee
authors.forename: Han
authors.initials: H
authors.lastname: Byul Jang
authors.forename: Jihyun
authors.initials: J
authors.lastname: Song
authors.forename: Kyung-Hee
authors.initials: KH
authors.lastname: Park
authors.forename: Hyung-Lae
authors.initials: HL
authors.lastname: Kim
authors.forename: Myeong-Chan
authors.initials: MC
authors.lastname: Cho
authors.forename: Jong-Young
authors.initials: JY
authors.lastname: Lee
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D044466:Asian People; D015992:Body Mass Index; D016022:Case-Control Studies; D002648:Child; D016640:Diabetes, Gestational / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D058685:Genetic Pleiotropy; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D009765:Obesity / Q000235:genetics*; D009839:Oligomenorrhea / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D012307:Risk Factors; D055815:Young Adult