Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis.

ABSTRACT:

Purpose

To conduct the first whole exome sequencing (WES) on Takayasu arteritis (TAK) to identify common and rare variants responsible for disease susceptibility.

Patients and methods

A total of 200 patients and 1675 healthy controls from China were recruited for this study. Site-based association analysis for common variants and gene-based burden analysis for rare variants were conducted. A weighted genetic risk score (wGRS) was calculated for each patient with TAK based on the independent risk alleles identified in the association analyses. The ability of the patient wGRS to discriminate between different phenotypes was evaluated.

Results

In the site-based analysis, the top association signal was CCHCR1 (rs1265067, p = 8.27 × 10^-12, OR = 2.41), a proxy fo

SUBMITTER: Liu L 

PROVIDER: S-EPMC9420927 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature