Replication of Caucasian Loci Associated with Osteoporosis-related Traits in East Asians.
10.11005/jbm.2016.23.4.233
- Author:
Beom Jun KIM
1
;
Seong Hee AHN
;
Hyeon Mok KIM
;
Shiro IKEGAWA
;
Tie Lin YANG
;
Yan GUO
;
Hong Wen DENG
;
Jung Min KOH
;
Seung Hun LEE
Author Information
1. Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hun0108@amc.seoul.kr
- Publication Type:Meta-Analysis ; Original Article
- Keywords:
Fractures bone;
Genome-wide association study;
Osteoporosis;
Polymorphism single nucleotide
- MeSH:
Asian Continental Ancestry Group*;
Bone Density;
Cohort Studies;
Genetic Markers;
Genome-Wide Association Study;
Hip Fractures;
Humans;
Osteoporosis;
Polymorphism, Single Nucleotide
- From:Journal of Bone Metabolism
2016;23(4):233-242
- CountryRepublic of Korea
- Language:English
-
Abstract:
BACKGROUND: Most reported genome-wide association studies (GWAS) seeking to identify the loci of osteoporosis-related traits have involved Caucasian populations. We aimed to identify the single nucleotide polymorphisms (SNPs) of osteoporosis-related traits among East Asian populations from the bone mineral density (BMD)-related loci of an earlier GWAS meta-analysis. METHODS: A total of 95 SNPs, identified at the discovery stage of the largest GWAS meta-analysis of BMD, were tested to determine associations with osteoporosis-related traits (BMD, osteoporosis, or fracture) in Korean subjects (n=1,269). The identified SNPs of osteoporosis-related traits in Korean subjects were included in the replication analysis using Chinese (n=2,327) and Japanese (n=768) cohorts. RESULTS: A total of 17 SNPs were associated with low BMD in Korean subjects. Specifically, 9, 6, 9, and 5 SNPs were associated with the presence of osteoporosis, non-vertebral fractures, vertebral fractures, and any fracture, respectively. Collectively, 35 of the 95 SNPs (36.8%) were associated with one or more osteoporosis-related trait in Korean subjects. Of the 35 SNPs, 19 SNPs (54.3%) were also associated with one or more osteoporosis-related traits in East Asian populations. Twelve SNPs were associated with low BMD in the Chinese and Japanese cohorts. Specifically, 3, 4, and 2 SNPs were associated with the presence of hip fractures, vertebral fractures, and any fracture, respectively. CONCLUSIONS: Our results identified the common SNPs of osteoporosis-related traits in both Caucasian and East Asian populations. These SNPs should be further investigated to assess whether they are true genetic markers of osteoporosis.
