Two Rare Mutations in the COL1A2 Gene Associate with Low Bone Mineral Density and Fractures in Iceland

• Main Authors: Styrkarsdottir, U, Thorleifsson, G, Eiriksdottir, B, Gudjonsson, SA, Ingvarsson, T, Center, JR, Nguyen, TV, Eisman, JA, Christiansen, C, Thorsteinsdottir, U, Sigurdsson, G, Stefansson, K
• Format: Article in Journal/Newspaper
• Language: unknown
• Published: 2016
• Subjects: Anatomy & Morphology; Humans; Collagen Type I; Bone Density; Polymorphism; Single Nucleotide; Aged; 80 and over; Middle Aged; Iceland; Female; Male; Fractures; Bone; INDEL Mutation; Indel’
• Online Access: http://hdl.handle.net/10453/122611

© 2015 American Society for Bone and Mineral Research. We conducted a genome-wide association study of low bone mineral density (BMD) at the hip and spine utilizing sequence variants found through whole-genome sequencing of 2636 Icelanders. We found two rare missense mutations, p.Gly496Ala and p.Gly...