Polygenic risk of refractory celiac disease type II and its association with autoimmune diseases: a phenome-wide association study in the UK Biobank.

ABSTRACT:

Objective

Refractory celiac disease-type II (RCDII) is the more severe and adverse form of celiac disease; however, its association with other autoimmune diseases remains unclear. We conducted a phenome-wide association study (PheWAS) to examine the association between the polygenic risk score (PRS) for RCDII and autoimmune diseases.

Methods

To construct the PRS-RCDII, we extracted summary statistics for three non-human leukocyte antigen genetic variants, which were independently associated with RCDII (r2 < 0.001; P < 5 × 10-5) in a genome-wide association study. We then conducted a PRS-PheWAS in the UK Biobank to investigate the associations of PRS-RCDII with 27 autoimmune diseases, adjusting for age, sex, genetic batch, and genetic ancestry. False discovery rate (FDR < 0.0

SUBMITTER: Tsali L 

PROVIDER: S-EPMC12577659 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature