Evidence map›Paper›PMID 40919893›Full record

ArticleBriefings in functional genomics2025

Identification of pathogenic cell types and shared genetic loci and genes for Alzheimer's disease and inflammatory bowel disease.

Jingjing Zhang, Yuqing Yan, Liqin Han, Rui Qiao, Xiaohui Niu, Peiluan Li

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Article in Briefings in functional genomics, 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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5 · Who and what money

Authors and funding

6 authors.

Jingjing ZhangSchool of Mathematics and Statistics, Henan University of Science and Technology, No. 263 Kaiyuan Avenue, Luolong District, Luoyang, Henan 471000, China.
Yuqing YanHubei Key Laboratory of Agricultural Bioinformatics, College of Informatics, Huazhong Agricultural University, No. 1, Shizishan Street, Hongshan District, Wuhan, Hubei 430074, China.
Liqin HanSchool of Mathematics and Statistics, Henan University of Science and Technology, No. 263 Kaiyuan Avenue, Luolong District, Luoyang, Henan 471000, China.
Rui QiaoSchool of Mathematics and Statistics, Henan University of Science and Technology, No. 263 Kaiyuan Avenue, Luolong District, Luoyang, Henan 471000, China.
Xiaohui NiuHubei Key Laboratory of Agricultural Bioinformatics, College of Informatics, Huazhong Agricultural University, No. 1, Shizishan Street, Hongshan District, Wuhan, Hubei 430074, China.ORCID 0000-0001-6801-2030
Peiluan LiSchool of Mathematics and Statistics, Henan University of Science and Technology, No. 263 Kaiyuan Avenue, Luolong District, Luoyang, Henan 471000, China.ORCID 0000-0001-5545-6185

Funding

Key R & D and Promotion Special Program of Henan Province No. 212102310988Key Science and Technology Research Project of Henan Province Nos. 242102310103,252102520024,252102240125National Natural Science Foundation of China Nos. 61673008Natural Science Foundation of Henan Province No. 242300420242the Young Backbone Teacher Funding Scheme of Henan No. 2019GGJS079
6 · The paper itself

Abstract

backgroundComorbidities and genetic correlations between gastrointestinal tract diseases and psychiatric disorders have been widely reported, but the underlying intrinsic link between Alzheimer's disease (AD) and inflammatory bowel disease (IBD) is not adequately understood.

methodsTo identify pathogenic cell types of AD and IBD and explore their shared genetic architecture, we developed Pathogenic Cell types and shared Genetic Loci (PCGL) framework, which studied AD and IBD and its two subtypes of ulcerative colitis (UC) and Crohn's disease (CD).

resultsWe found that monocytes and CD8 T cells were the enriched pathogenic cell types of AD and IBDs, respectively. By PCGL framework, there was a significant global genetic correlation between AD and each of IBD, UC, and CD. Especially, local genetic correlations between AD and IBD showed strong signals in chr6. Bidirectional two-sample MR Analyses also validated these. Cross-trait meta-analysis identified two key genetic loci rs660895 (on chr6) and rs917117 (on chr7), which have not been previously reported. Two loci are located on the genes HLA-DRB1 and JAZF1, respectively. MAGMA genome-wide gene-based analysis identified six overlapping genes including HLA-DRB1. Subsequently, for one thing, SMR analyses further validated six shared genes in specific tissues and monocytes. For another, pathway enrichment analysis revealed shared genes were enriched in several natural killer cell mediated cytotoxicity and chemokine signaling pathways.

conclusionsPCGL not only revealed the significant genetic correlations underlying AD and IBDs but also identified enriched pathogenic cell types and new shared loci and genes. We highlighted the mediation of HLA-DRB1 effects in the comorbidity mechanisms.

Indexed as

Alzheimer DiseaseGenetic LociGenetic Predisposition to DiseaseInflammatory Bowel DiseasesGenome-Wide Association StudyHumansPolymorphism, Single NucleotideAlzheimer’s diseasegenetic locigenome-wide association studiesinflammatory bowel diseaseMendelian randomizationpathogenic cell types

Identifiers

PMID40919893
PMCPMC12415860

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