Multiple Genetic Loci for Bone Mineral Density and Fractures

• Published in: The New England journal of medicine Vol. 358; no. 22; pp. 2355 - 2365
• Main Authors: Styrkarsdottir, Unnur, Halldorsson, Bjarni V, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Walters, G. Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Center, Jacqueline R, Nguyen, Tuan V, Bagger, Yu, Gulcher, Jeffrey R, Eisman, John A, Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 29.05.2008
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Australia; Biological and medical sciences; Bone density; Bone Density - genetics; Denmark; Estrogen Receptor alpha - genetics; Female; Fractures; Fractures, Bone - genetics; General aspects; Genotype; Humans; Iceland; Investigative techniques, diagnostic techniques (general aspects); Linear Models; Male; Medical sciences; Methods; Middle Aged; Mortality; Older people; Osteoarticular system. Muscles; Osteoporosis; Osteoporosis - genetics; Osteoprotegerin - genetics; Polymorphism, Single Nucleotide; Quantitative Trait Loci; Radiodiagnosis. Nmr imagery. Nmr spectrometry; RANK Ligand - genetics; Denmark; Australia; Iceland; Medicine; Multiple; Diseases of the osteoarticular system; Genetics; Bone mineral density; Fracture; Trauma
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa0801197

This study implicates five genetic loci in bone mineral density. Two of these loci are new; three implicate genes known to be involved in bone remodeling, such as the receptor activator of nuclear factor-κB ligand gene ( RANKL ). Analyses showed that three of the loci are associated with osteoporotic fracture. This study implicates five genetic loci in bone mineral density. Two of these loci are new; three implicate genes known to be involved in bone remodeling. Osteoporosis confers substantive morbidity and mortality and associated costs and predisposes people to fragility fractures at the hip, spine, forearm, or other skeletal sites. 1 It is a common disease affecting both sexes in populations of various ancestries, although elderly women of European descent are at the highest risk. 2 Bone density is the single best predictor of osteoporotic fractures and is a valuable tool in evaluation of the risk of fractures. 3 , 4 There is abundant evidence for a genetic contribution to variation in bone mineral density, with heritability estimates between 0.6 and 0.8. 5 Bone mineral density is also influenced by environmental . . .