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A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans.


ABSTRACT: OA is a complex disease caused by environmental and genetic risk factors. The purpose of this study is to identify candidate copy number variations (CNVs) associated with OA.We performed a genome-wide association study of CNV to identify potential loci that confer susceptibility to or protection from OA. CNV genotyping was conducted using NimbleGen HD2 3?×?720K comparative hybridization array and included samples from 371 OA patients and 467 healthy controls. The putative CNV regions identified were confirmed with a TaqMan assay.We identified six genomic regions associated with OA encompassing CNV loci. None of six loci had previously been reported in genome-wide association studies with OA, although a genetic analysis suggested that they have functional effects. The protein product of a candidate risk gene for obesity, TNKS, targets Wnt inhibition, and this gene was significantly associated with hand and knee OA. Copy number deletion on TNKS was associated with a 1.37-fold decreased risk for OA. In addition, CA10, which shows a strong association with osteoporosis, was also significant in our study. Copy number deletion on this gene was associated with a 1.69-fold decreased risk for OA.We identified several CNV loci that may contribute to OA susceptibility in Koreans. Further functional investigations of these genes are warranted to fully characterize their putative association.

SUBMITTER: Moon S 

PROVIDER: S-EPMC4395893 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans.

Moon Sanghoon S   Keam Bhumsuk B   Hwang Mi Yeong MY   Lee Young Y   Park Suyeon S   Oh Ji Hee JH   Kim Yeon-Jung YJ   Lee Heun-Sik HS   Kim Nam Hee NH   Kim Young Jin YJ   Kim Dong-Hyun DH   Han Bok-Ghee BG   Kim Bong-Jo BJ   Lee Juyoung J  

BMC musculoskeletal disorders 20150404


<h4>Background</h4>OA is a complex disease caused by environmental and genetic risk factors. The purpose of this study is to identify candidate copy number variations (CNVs) associated with OA.<h4>Methods</h4>We performed a genome-wide association study of CNV to identify potential loci that confer susceptibility to or protection from OA. CNV genotyping was conducted using NimbleGen HD2 3 × 720K comparative hybridization array and included samples from 371 OA patients and 467 healthy controls. T  ...[more]

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