Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures
Publication in refereed journal


摘要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, represented by rs28377268 (freq. 11.4–22.6%) that associates with reduced spine BMD (P=1.0 × 10−11, β=−0.09). We also identified a new spine BMD signal in RSPO3, rs577721086 (freq. 6.8%), that associates with increased spine BMD (P=6.6 × 10−10, β=0.14). Importantly, both variants associate with osteoporotic fractures and affect expression of the PTCH1 and RSPO3 genes that is in line with their influence on BMD and known biological function of these genes. Additional new BMD signals were also found at the AXIN1 and SOST loci and a new lead SNP at the EN1 locus.
著者Unnur Styrkarsdottir, Gudmar Thorleifsson, Sigurjon A. Gudjonsson, Asgeir Sigurdsson, Jacqueline R. Center, Seung Hun Lee, Tuan V. Nguyen, Timothy C.Y. Kwok, Jenny S.W. Lee, Suzanne C. Ho, Jean Woo, Ping-C. Leung, Beom-Jun Kim, Thorunn Rafnar, Lambertus A. Kiemeney, Thorvaldur Ingvarsson, Jung-Min Koh, Nelson L.S. Tang, John A. Eisman, Claus Christiansen, Gunnar Sigurdsson, Unnur Thorsteinsdottir, Kari Stefansson
期刊名稱Nature Communications
關鍵詞Disease genetics, Genetic variation, Osteoporosis
Web of Science 學科類別Multidisciplinary Sciences;Science & Technology - Other Topics

上次更新時間 2021-10-09 於 23:54