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BMC Musculoskeletal Disorders
Published in: BMC Musculoskeletal Disorders 1/2015

Open Access 01-12-2015 | Research article

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

Authors: Sanghoon Moon, Bhumsuk Keam, Mi Yeong Hwang, Young Lee, Suyeon Park, Ji Hee Oh, Yeon-Jung Kim, Heun-Sik Lee, Nam Hee Kim, Young Jin Kim, Dong-Hyun Kim, Bok-Ghee Han, Bong-Jo Kim, Juyoung Lee

Published in: BMC Musculoskeletal Disorders | Issue 1/2015

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Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.
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Metadata
Title
A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans
Authors
Sanghoon Moon
Bhumsuk Keam
Mi Yeong Hwang
Young Lee
Suyeon Park
Ji Hee Oh
Yeon-Jung Kim
Heun-Sik Lee
Nam Hee Kim
Young Jin Kim
Dong-Hyun Kim
Bok-Ghee Han
Bong-Jo Kim
Juyoung Lee
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Musculoskeletal Disorders / Issue 1/2015
Electronic ISSN: 1471-2474
DOI
https://doi.org/10.1186/s12891-015-0531-4

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