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KMID : 1132720110090020052
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Genomics & Informatics
2011 Volume.9 No. 2 p.52 ~ p.58
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Genome-wide Association Study Identification of a New Genetic Locus with Susceptibility to Osteoporotic Fracture in the Korean Population
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Hwang Joo-Yeon
Lee Seung-Hun
Go Min-Jin
Kim Beom-Jun
Kim Young-Jin
Kim Dong-Joon
Oh Ji-Hee
Koo Hee-Jo
Cha My-Jung
Lee Min-Hye
Yun Ji-Young
Yoo Hye-Sook
Kang Young-Ah
Oh Ki-Won
Kang Moo-Il
Son Ho-Young
Kim Shin-Yoon
Kim Ghi-Su
Han Bok-Ghee
Cho Yoon-Shin
Koh Jung-Min
Lee Jong-Young
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Abstract
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Osteoporotic fracture (OF), along with bone mineral density (BMD), is an important diagnostic parameter and a clinical predictive risk factor in the assessment of osteoporosis in the elderly population. However, a genomewide association study (GWAS) on OF has not yet been clarified sufficiently. To identify OF-associated genetic variants and candidate genes, we conducted a GWAS in a population-based cohort (Korean Association Resource [KARE], n=1,427 [case: 288 and control: 1139]) and performed a de novo replication study in hospital-based individuals (Asan and Catholic Medical Center [ACMC], n=1,082 [case: 272 and control: 810]). In a combined meta-analysis, a newly identified genetic locus in an intergenic region at 10p11.2 (near genes FZD8 and ANKRD30A ) showed the most significant association (odd ratio [OR] = 2.00, 95% confidence interval [CI] = 1.47~2.74, p=1.27x10(-5)) in the same direction. We provide the first evidence for a common genetic variant influencing OF and genetic information for further investigation in bone metabolism.
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KEYWORD
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genomewide association study, meta-analysis, osteoporotic fracture, intergenic
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