New sequence variants associated with bone mineral density

• Published in: Nature genetics Vol. 41; no. 1; pp. 15 - 17
• Main Authors: Styrkarsdottir, Unnur, Halldorsson, Bjarni V, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Walters, G Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Snorradóttir, Steinunn, Center, Jacqueline R, Nguyen, Tuan V, Alexandersen, Peter, Gulcher, Jeffrey R, Eisman, John A, Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.01.2009; Nature Publishing Group
• Subjects: Agriculture; Animal Genetics and Genomics; Base Sequence; Binding sites; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Bone density; Bone Density - genetics; Bone mineral density; Bones; brief-communication; Cancer Research; Chromosomes, Human, Pair 17 - genetics; Density; Female; Fractures; Fractures, Bone - complications; Fractures, Bone - genetics; Fundamental and applied biological sciences. Psychology; Gene Function; Genes; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Health aspects; Human Genetics; Humans; Kinases; Male; Physiological aspects; Polymorphism, Single Nucleotide - genetics; Proteins; Risk factors; Sample size; Single nucleotide polymorphisms; Wounds and Injuries - complications; Wounds and Injuries - genetics; Iceland; Osteoarticular system; Variant; Bone; Density
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/ng.284

Unnur Styrkarsdottir and Kari Stefansson and colleagues report the results of an expanded genome-wide association study for bone mineral density at the hip or the spine. New SNP associations were identified downstream of the SOST gene on 17q21, and in intron 1 of the MARK3 gene on 14q32. In an extended genome-wide association study of bone mineral density among 6,865 Icelanders and a follow-up in 8,510 subjects of European descent, we identified four new genome-wide significant loci. These are near the SOST gene at 17q21, the MARK3 gene at 14q32, the SP7 gene at 12q13 and the TNFRSF11A ( RANK ) gene at 18q21. Furthermore, nonsynonymous SNPs in the C17orf53, LRP4, ADAM19 and IBSP genes were suggestively associated with bone density.