Genome-wide Association Study of Estradiol Levels and the Causal Effect of Estradiol on Bone Mineral Density.

ABSTRACT:

Context

Estradiol is the primary female sex hormone and plays an important role for skeletal health in both sexes. Several enzymes are involved in estradiol metabolism, but few genome-wide association studies (GWAS) have been performed to characterize the genetic contribution to variation in estrogen levels.

Objective

Identify genetic loci affecting estradiol levels and estimate causal effect of estradiol on bone mineral density (BMD).

Design

We performed GWAS for estradiol in males (n = 147 690) and females (n = 163 985) from UK Biobank. Estradiol was analyzed as a binary phenotype above/below detection limit (175 pmol/L). We further estimated the causal effect of estradiol on BMD using Mendelian randomization.

Results

We identified 14 independent loci associa

SUBMITTER: Schmitz D 

PROVIDER: S-EPMC8530739 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature