Genome-wide association identifies a new susceptibility locus at 2q13 associated with clinical vertebral fractures in post-menopausal women

Abstract

Clinical vertebral fractures (CVF) are a serious complication of osteoporosis. They are associated with back pain, kyphosis, height loss, cardiorespiratory compromise and increased mortality. Genetic factors play an important role in regulating bone mineral density (BMD) and susceptibility to non-vertebral fractures, but there is little information on the genetic determinants of CVF. Here we report the results of a genome wide association study to identify loci that predispose to CVF, involving 1634 postmenopausal female CVF cases (from 11 centres in Europe and Australia) and 4662 controls, matched for region and gender. Genotyping was performed using the Illumina OmniX array and standard quality control measures were applied. Each cohort was analysed separately and results were combined using inverse-variance meta-analysis. Replication was sought in 634 CVF cases and 2150 controls. [excerpt]