X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.

ABSTRACT:

Background

The association between genetic variants on the X chromosome to risk of COPD has not been fully explored. We hypothesize that the X chromosome harbors variants important in determining risk of COPD related phenotypes and may drive sex differences in COPD manifestations.

Methods

Using X chromosome data from three COPD-enriched cohorts of adult smokers, we performed X chromosome specific quality control, imputation, and testing for association with COPD case-control status, lung function, and quantitative emphysema. Analyses were performed among all subjects, then stratified by sex, and subsequently combined in meta-analyses.

Results

Among 10,193 subjects of non-Hispanic white or European ancestry, a variant near TMSB4X, rs5979771, reached genome-wide signifi

SUBMITTER: Hayden LP 

PROVIDER: S-EPMC9891756 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature