Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8624981 | Bone | 2018 | 35 Pages |
Abstract
In the present study, aiming to identify loci associated with osteoporosis, we conducted a joint association study of 2 independent genome-wide association meta-analyses of femoral neck and lumbar spine bone mineral densities (BMDs): 1) an in-house study of 6 samples involving 7484 subjects, and 2) the GEFOS-seq study of 7 samples involving 32,965 subjects. The in-house samples were imputed by the 1000 genomes project phase 3 reference panel. SNP-based association test was applied to 7,998,108 autosomal SNPs in each meta-analysis, and for each SNP the 2 association signals were then combined for joint analysis and for mutual replication. Combining the evidence from both studies, we identified 2 novel loci associated with BMDs at the genome-wide significance level (α = 5.0 Ã 10â8): 20p12.1 (rs73100693 p = 2.65 Ã 10â8, closest gene MACROD2) and 20q13.33 (rs2380128 p = 3.44 Ã 10â8, OSBPL2). We also replicated 7 loci that were reported by two recent studies on heel and total body BMD. Our findings provide useful insights that enhance our understanding of bone development, osteoporosis and fracture pathogenesis.
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Authors
Yu-Fang Pei, Wen-Zhu Hu, Min-Wei Yan, Chang-Wei Li, Lu Liu, Xiao-Lin Yang, Rong Hai, Xiu-Yan Wang, Hui Shen, Qing Tian, Hong-Wen Deng, Lei Zhang,