Genetic relationship between Sjogren's syndrome and abdominal aortic aneurysm: insights from a European population's genome-wide association analysis.

ABSTRACT:

Background

Abdominal aortic aneurysm (AAA) and Sjögren's syndrome (SS) frequently coexist, suggesting shared pathogenesis, but their genetic-immunological links are unclear.

Objective

Investigate the shared genetic architecture and immune pathways between SS and AAA.

Methods

Using European GWAS summary statistics (SS: 585 cases/1,546 controls; AAA: 4,083 cases/420,324 controls), we applied complementary genomics approaches: LDSC (genetic correlation), S-LDSC (tissue heritability), PLACO/FUMA (pleiotropic loci), MAGMA/Metascape (pathways), SMR (druggable targets), and HyPrColoc (immune cells).

Key results

A significant positive genetic correlation exists (rg = 0.32, PFDR = 0.021). We identified 8 shared risk SNPs and 6 pleiotropic genes (e.g., HLA-B, HLA-DQB2, L

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC12504205 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature