Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications

查看全文 作　　者：Xiaowei [1,2,3]Zhu;Weiyang [1,2,3]Bai;Houfeng [1,2,3,4]Zheng

机构地区：[1]Diseases&Population(DaP)Geninfo Lab,School of Life Sciences,Westlake University,18 Shilongshan Road,Hangzhou,China;[2]Institute of Basic Medical Sciences,Westlake Institute for Advanced Study,18 Shilongshan Road,Hangzhou,China;[3]School of Life Sciences,Fudan University,Shanghai,China;[4]Westlake Laboratory of Life Sciences and Biomedicine,Hangzhou,Zhejiang,China

出　　处：《Bone Research》索引2021年第9卷第3期,共19页

基　　金：supported by the National Natural Science Foundation of China(81871831 and 32061143019). 摘　　要：Osteoporosis is a common skeletal disease,affecting-200 million people around the world.As a complex disease,osteoporosis is influenced by many factors,including diet(e.g.calcium and protein intake),physical activity,endocrine status,coexisting diseases and genetic factors.In this review,we first summarize the discovery from genome-wide association studies(GWASs)in the bone field in the last 12 years.To date,GWASs and meta-analyses have discovered hundreds of loci that are associated with bone mineral density(BMD),osteoporosis,and osteoporotic fractures.However,the GWAS approach has sometimes been criticized because of the small effect size of the discovered variants and the mystery of missing heritability,these two questions could be partially explained by the newly raised conceptual models,such as omnigenic model and natural selection.Finally,we introduce the clinical use of GWAS findings in the bone field,such as the identification of causal clinical risk factors,the development of drug targets and disease prediction.Despite the fruitful GWAS discoveries in the bone field,most of these GWAS participants were of European descent,and more genetic studies should be carried out in other ethnic populations to benefit disease prediction in the corresponding population. 关键词：OSTEOPOROSIS GWAS hundreds

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Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications

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