作者
J Brent Richards, F Rivadeneira, Michael Inouye, TM Pastinen, Nicole Soranzo, SG Wilson, Toby Andrew, Mario Falchi, Rhian Gwilliam, KR Ahmadi, AM Valdes, Pascal Arp, P Whittaker, DJ Verlaan, Mila Jhamai, V Kumanduri, Michael Moorhouse, JB Van Meurs, Albert Hofman, HAP Pols, D Hart, Guangju Zhai, BS Kato, BH Mullin, Feng Zhang, Panagiotis Deloukas, AG Uitterlinden, TD Spector
发表日期
2008/5/3
期刊
The Lancet
卷号
371
期号
9623
页码范围
1505-1512
出版商
Elsevier
简介
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<5×10−8). The SNPs were rs4355801, on chromosome 8, near to the TNFRSF11B (osteoprotegerin) gene, and rs3736228, on chromosome 11 in the …
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JB Richards, F Rivadeneira, M Inouye, TM Pastinen… - The Lancet, 2008