Genomics Inform.
2011 Jun;9(2):52-58.
Genome-wide Association Study Identification of a New Genetic Locus with Susceptibility to Osteoporotic Fracture in the Korean Population
- Affiliations
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- 1Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Chungbuk 363-951, Korea. leejy63@nih.go.kr
- 2Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, Seoul 138-736, Korea.
- 3Skeletal Diseases Genome Research Center, Kyungpook National University Hospital, Daegu 700-721, Korea.
- 4Department of Internal Medicine, Sungkyunkwan University School of Medicine, Seoul 136-710, Korea.
- 5Department of Internal Medicine, The Catholic University of Korea School of Medicine, Seoul 137-701, Korea.
- 6Department of Orthopedic Surgery, School of Medicine, Kyungpook National University, Daegu 700-721, Korea.
Abstract
- 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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