Integrating genome-wide association and eQTLs studies identifies the genes associated with age at menarche and age at natural menopause.

ABSTRACT:

Objective

An early onset of menarche and, later, menopause are well-established risk factors for the development of breast cancer and endometrial cancer. Although the largest GWASs have identified 389 independent signals for age at menarche (AAM) and 44 regions for age at menopause (ANM), GWAS can only identify the associations between variants and traits. The aim of this study was to identify genes whose expression levels were associated with AAM or ANM due to pleiotropy or causality by integrating GWAS data with genome-wide expression quantitative trait loci (eQTLs) data. We also aimed to identify the pleiotropic genes that influenced both phenotypes.

Method

We employed GWAS data of AAM and ANM and genome-wide eQTL data from whole blood. The summary data-based Mendelian ra

SUBMITTER: Wang G 

PROVIDER: S-EPMC6576755 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature