Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies

• Published in: American journal of human genetics Vol. 86; no. 2; pp. 229 - 239
• Main Authors: Kung, Annie W.C., Xiao, Su-Mei, Cherny, Stacey, Li, Gloria H.Y., Gao, Yi, Tso, Gloria, Lau, Kam S., Luk, Keith D.K., Liu, Jian-min, Cui, Bin, Zhang, Min-Jia, Zhang, Zhen-lin, He, Jin-wei, Yue, Hua, Xia, Wia-bo, Luo, Lian-mei, He, Shu-li, Kiel, Douglas P., Karasik, David, Hsu, Yi-Hsiang, Cupples, L. Adrienne, Demissie, Serkalem, Styrkarsdottir, Unnur, Halldorsson, Bjarni V., Sigurdsson, Gunnar, Thorsteinsdottir, Unnur, Stefansson, Kari, Richards, J. Brent, Zhai, Guangju, Soranzo, Nicole, Valdes, Ana, Spector, Tim D., Sham, Pak C.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 12.02.2010; Cell Press; Elsevier
• Subjects: Aged; Alleles; Asian people; Bone density; Bone Density - genetics; Calcium-Binding Proteins - genetics; Cohort Studies; Electrophoretic Mobility Shift Assay; Female; Follow-Up Studies; Fractures; Fractures, Bone - complications; Fractures, Bone - genetics; Fractures, Bone - physiopathology; Gene Expression Regulation; Genetic Predisposition to Disease; Genetics; Genome-Wide Association Study; Genomics; Humans; Intercellular Signaling Peptides and Proteins - genetics; Jagged-1 Protein; Membrane Proteins - genetics; Middle Aged; Osteoporosis; Osteoporosis - complications; Osteoporosis - genetics; Osteoporosis - physiopathology; Polymorphism, Single Nucleotide - genetics; Reproducibility of Results; Ribonucleic acid; RNA; Serrate-Jagged Proteins

Bone mineral density (BMD), a diagnostic parameter for osteoporosis and a clinical predictor of fracture, is a polygenic trait with high heritability. To identify genetic variants that influence BMD in different ethnic groups, we performed a genome-wide association study (GWAS) on 800 unrelated Sout...