与骨密度相关的新序列变异体。
New sequence variants associated with bone mineral density.
作者信息
Styrkarsdottir Unnur, Halldorsson Bjarni V, Gretarsdottir Solveig, Gudbjartsson Daniel F, Walters G Bragi, Ingvarsson Thorvaldur, Jonsdottir Thorbjorg, Saemundsdottir Jona, Snorradóttir Steinunn, Center Jacqueline R, Nguyen Tuan V, Alexandersen Peter, Gulcher Jeffrey R, Eisman John A, Christiansen Claus, Sigurdsson Gunnar, Kong Augustine, Thorsteinsdottir Unnur, Stefansson Kari
机构信息
deCODE Genetics, Reykjavik, Iceland.
出版信息
Nat Genet. 2009 Jan;41(1):15-7. doi: 10.1038/ng.284. Epub 2008 Dec 14.
In an extended genome-wide association study of bone mineral density among 6,865 Icelanders and a follow-up in 8,510 subjects of European descent, we identified four new genome-wide significant loci. These are near the SOST gene at 17q21, the MARK3 gene at 14q32, the SP7 gene at 12q13 and the TNFRSF11A (RANK) gene at 18q21. Furthermore, nonsynonymous SNPs in the C17orf53, LRP4, ADAM19 and IBSP genes were suggestively associated with bone density.
在一项针对6865名冰岛人的全基因组关联研究扩展版以及对8510名欧洲血统受试者的随访研究中，我们确定了4个新的全基因组显著位点。这些位点分别位于17q21的SOST基因附近、14q32的MARK3基因附近、12q13的SP7基因附近以及18q21的TNFRSF11A（RANK）基因附近。此外，C17orf53、LRP4、ADAM19和IBSP基因中的非同义单核苷酸多态性与骨密度存在提示性关联。
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