Exome Sequencing Reveals Genetic Variability and Identifies Chronic Prognostic Loci in Chinese Sarcoidosis Patients.

ABSTRACT:

Background

Sarcoidosis is an inflammatory disease characterized by non-caseating granuloma formation in various organs, with several recognized genetic and environmental risk factors. Despite substantial progress, the genetic determinants associated with its prognosis remain largely unknown.

Objectives

This study aimed to identify the genetic changes involved in sarcoidosis and evaluate their clinical relevance.

Methods

We performed whole-exome sequencing (WES) in 116 sporadic sarcoidosis patients (acute sarcoidosis patients, n=58; chronic sarcoidosis patients, n=58). In addition, 208 healthy controls were selected from 1000 G East Asian population data. To identify genes enriched in sarcoidosis, Fisher exact tests were performed. The identified genes were included fo

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC9289133 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature