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Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found a new BMD locus that harbours the PTCH1 gene, re...
January 6, 2016
Styrkarsdottir U, Thorleifsson G, Gudjonsson SA, Sigurdsson A, Center JR, Lee SH, Nguyen TV, Kwok TC, Lee JS, Ho SC, Woo J, Leung PC, Kim BJ, Rafnar T, Kiemeney LA, Ingvarsson T, Koh JM, Tang NL, Eisman JA, Christiansen C, Sigurdsson G, Thorsteinsdottir U, Stefansson K
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...