Article
Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2016
Styrkarsdottir Unnur, Thorleifsson Gudmar, Eiriksdottir Berglind, Gudjonsson Sigurjon A, Ingvarsson Thorvaldur, Center Jacqueline R, Nguyen Tuan V, Eisman John A, Christiansen Claus, Thorsteinsdottir Unnur, Sigurdsson Gunnar, Stefansson Kari
Abstract excerpt
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.Gly703Ser, in the COL1A2 gene that associate with measures of osteoporosis in Icelanders. Mutations in COL1A2 are known to cause the autosomal dominant disorder osteogenesis...
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