Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.

ABSTRACT:

Objectives

To identify genetic determinants of susceptibility to clinical vertebral fractures, which is an important complication of osteoporosis.

Methods

Here we conduct a genome-wide association study in 1553 postmenopausal women with clinical vertebral fractures and 4340 controls, with a two-stage replication involving 1028 cases and 3762 controls. Potentially causal variants were identified using expression quantitative trait loci (eQTL) data from transiliac bone biopsies and bioinformatic studies.

Results

A locus tagged by rs10190845 was identified on chromosome 2q13, which was significantly associated with clinical vertebral fracture (P=1.04×10^-9) with a large effect size (OR 1.74, 95% CI 1.06 to 2.6). Bioinformatic analysis of this locus identified s

SUBMITTER: Alonso N 

PROVIDER: S-EPMC5912156 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature