Genome-wide association study of developmental dysplasia of the hip identifies an association with <i>GDF5</i>.

ABSTRACT: Developmental dysplasia of the hip (DDH) is the most common skeletal developmental disease. However, its genetic architecture is poorly understood. We conduct the largest DDH genome-wide association study to date and replicate our findings in independent cohorts. We find the heritable component of DDH attributable to common genetic variants to be 55% and distributed equally across the autosomal and X-chromosomes. We identify replicating evidence for association between GDF5 promoter variation and DDH (rs143384, effect allele A, odds ratio 1.44, 95% confidence interval 1.34-1.56, P = 3.55 × 10^-22). Gene-based analysis implicates GDF5 (P = 9.24 × 10^-12), UQCC1 (P = 1.86 × 10^{- 10}), MMP24 (P = 3

SUBMITTER: Hatzikotoulas K 

PROVIDER: S-EPMC6123669 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature