Bone Mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study

J.B. Richards, F. Rivadeneira, M. Inouye, T.M. Pastinen, N. Soranzo, Scott Wilson, T. Andrew, M. Falchi, R. Gwilliam, K.R. Ahmadi, A.M. Valdes, P. Arp, P. Whittaker, D.J. Verlaan, M. Jhamai, V. Kumanduri, M. Moorhouse, J.B. Van Meurs, A. Hofman, H.A.P. PolsD. Hart, G. Zhai, B.S. Kato, B.H. Mullin, F. Zhang, P. Deloukas, A.G. Uitterlinden, T.D. Spector

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Abstract

Background: Osteoporosis is diagnosed by the measurement of bone mineral density, which is a highly heritable and multifactorial trait. We aimed to identify genetic loci that are associated with bone mineral density.Methods: In this genome-wide association study, we identified the most promising of 314 075 single nucleotide polymorphisms (SNPs) in 2094 women in a UK study. We then tested these SNPs for replication in 6463 people from three other cohorts in western Europe. We also investigated allelic expression in lymphoblast cell lines. We tested the association between the replicated SNPs and osteoporotic fractures with data from two studies. Findings: We identified genome-wide evidence for an association between bone mineral density and two SNPs (p
Original languageEnglish
Pages (from-to)online - approx 5-20pp
JournalThe Lancet
Volume371
Issue number9623
DOIs
Publication statusPublished - 2008

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