Exome-wide rare variant analyses of two bone mineral density phenotypes: the challenges of analyzing rare genetic variation.

ABSTRACT: Performance of a recently developed test for association between multivariate phenotypes and sets of genetic variants (MURAT) is demonstrated using measures of bone mineral density (BMD). By combining individual-level whole genome sequenced data from the UK10K study, and imputed genome-wide genetic data on individuals from the Study of Osteoporotic Fractures (SOF) and the Osteoporotic Fractures in Men Study (MrOS), a data set of 8810 individuals was assembled; tests of association were performed between autosomal gene-sets of genetic variants and BMD measured at lumbar spine and femoral neck. Distributions of p-values obtained from analyses of a single BMD phenotype are compared to those from the multivariate tests, across several region definitions and variant weightings. There is evidenc

SUBMITTER: Sun J 

PROVIDER: S-EPMC5760616 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature