Session: MON 548-560-Hyperandrogenic Disorders
Poster Board MON-548
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
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