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

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<5x10(-8)). The SNP

SUBMITTER: Richards JB 

PROVIDER: S-EPMC2679414 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature