Evidence map›Paper›PMID 41070094›Full record

ArticleFrontiers in cardiovascular medicine2025

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

Yunanji Zhou, Hao Xiong, Qinghua Luo, Zhaohui Ding, Jun He, Lihua Wang

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Article in Frontiers in cardiovascular medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Yunanji Zhou *Qi Huang Chinese Medicine Academy, Jiangxi University of Chinese Medicine, Nanchang, Jiangxi, China.
Hao Xiong *School of Clinical Medicine, Jiangxi University of Chinese Medicine, Nanchang, Jiangxi, China.
Qinghua LuoSchool of Clinical Medicine, Jiangxi University of Chinese Medicine, Nanchang, Jiangxi, China.
Zhaohui DingSchool of Clinical Medicine, Jiangxi University of Chinese Medicine, Nanchang, Jiangxi, China.
Jun HePulmonary Disease Department, Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine, Nanchang, Jiangxi, China.
Lihua WangPulmonary Disease Department, Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine, Nanchang, Jiangxi, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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, LSM2) within loci 6p22.2-21.32. Pathway analyses revealed significant enrichment for MHC class II antigen presentation ( Conclusion: This study establishes a shared genetic and immunological basis for SS and AAA, driven primarily by dysregulated HLA-mediated antigen presentation (HLA-B/HLA-DR), spliceosome dysfunction, and NK cell impairment. These findings provide mechanistic insights for early AAA detection in SS patients and support developing immunotherapies targeting HLA pathways.

Indexed as

abdominal aortic aneurysmgenetic correlationsimmune colocalizationpleiotropic lociSjögren's syndrome

Identifiers

PMID41070094
PMCPMC12504205

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