Genome-Wide Association Study Identifies the New Susceptibility Loci for Polycystic Ovary Syndrome in Korean Women

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 548-560-Hyperandrogenic Disorders
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-548
Hyejin Lee*1, Ji Young Oh2, Yeon-Ah Sung2 and Hyewon Chung2
1Ewha Women's University School of Medicine, Seoul, South Korea, 2Ewha Womans University School of Medicine, Seoul, South Korea
Polycystic ovary syndrome (PCOS) is a common endocrine disorder that is characterized by hyperandrogenism, oligomenorrhea, and polycystic ovary morphology. PCOS is a complex genetic disorder with multiple susceptibility genes as well as environmental factors. Recently, the genome-wide association study (GWAS) in Chinese population identified eleven loci that were associated with PCOS. However, these genetic signals are not sufficient to reveal the genetic cause of PCOS. The aim of this study was to identify causative genes of PCOS in Korean women.

We performed a GWAS in 2,000 Korean women (1,000 PCOS, and 1,000 controls, mean age: 25±5 years (16~39 years)). DNA from individuals was genotyped using the Illumina HumanOmni1 Quad array. After quality-control procedures, we retained genotypes for 636,870 SNPs. PLINK was employed to conduct association tests for the allele data with logistic regression.

We identified new associations at two loci (9q 21.3, rs4745427; P value = 1.53 x 10-8, OR = 1.778, 1p22, rs11164278; P value = 1.39 x 10-10, OR = 2.065), and marginal association at multiple SNPs (rs2197445, rs500492, rs11164279, rs6070694, rs8068318, rs7297817, rs9905140, rs1057987, rs11871637, P value = 1.03 x 10-7 ~ 9.45 x 10-7). At 9q21.3, rs4745427 located near the proprotein convertase subtilisin/kexin type 5 (PCSK5) gene, which is associated with ovarian follicle development.

Our GWAS identified two new susceptiblity loci (9q21.3, 1p22) for PCOS in Korean women, and these results might provide additional insight into pathogenesis of PCOS. However further replication studies are needed to confirm these findings.

Nothing to Disclose: HL, JYO, YAS, HC

*Please take note of The Endocrine Society's News Embargo Policy at

Previous Abstract | Next Abstract >>