Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions.

ABSTRACT:

Purpose

Osteoporosis is a common global health problem characterized by low bone mineral density (BMD) and increased risk of fracture. Genome-wide association studies (GWAS) have identified >100 genetic loci associated with BMD. However, the functional genes responsible for most associations remain largely unknown. We conducted an innovative summary statistic data-based Mendelian randomization (SMR) analysis to identify novel causal genes associated with BMD and explored their potential functional significance.

Methods

After quality control of the largest GWAS meta-analysis data of BMD and the largest expression quantitative trait loci (eQTL) meta-analysis data from peripheral blood samples, 5967 genes were tested using the SMR method. Another eQTL data was used to verify th

SUBMITTER: Meng XH 

PROVIDER: S-EPMC6346739 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature