X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.

ABSTRACT:

Background & aims

Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease.

Methods

We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals).

Results

Single-marker association analyses found approximately 100 loci displaying P < 5 × 10^-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10^-6; odds ratio [OR], 1.39; 95% confidence interval [CI], 1.028-1.88; Japane

SUBMITTER: Asselta R 

PROVIDER: S-EPMC8169555 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature