{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T17:05:05Z","timestamp":1763571905080,"version":"3.45.0"},"reference-count":32,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:00:00Z","timestamp":1760313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:00:00Z","timestamp":1760313600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int Arch Allergy Immunol"],"abstract":"<jats:p>Introduction: Genetic studies have investigated the association of genetic variants with immunoglobulin G4-related disease (IgG4-RD). In this study, we summarize the results of genetic association in IgG4-RD. Materials and Methods: We performed a literature search in MEDLINE, EMBASE via the OVID platform, Cochrane Central Register of Controlled Trials (CENTRAL), &lt;ext-link ext-link-type=\"uri\" xlink:href=\"http:\/\/ClinicalTrials.gov\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\"&gt;ClinicalTrials.gov&lt;\/ext-link&gt; (&lt;ext-link ext-link-type=\"uri\" xlink:href=\"http:\/\/www.clinicaltrials.gov\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\"&gt;www.clinicaltrials.gov&lt;\/ext-link&gt;), and World Health Organization International Clinical Trials Registry Platform (WHO ICTRP) for genetic studies on IgG4-RD on January 20, 2023. Results: We identified a total of 431 articles published between 1975 and 2023. After removing all the duplicates, we evaluated the abstract and selected 65 articles for full-text review. Among them, 17 fulfilled the eligibility criteria, including 15 original case-control studies, and two genome-wide association studies. Autoimmune pancreatitis was reported in 15 of the 17 articles, and the other 2 articles included IgG4-related periaortitis\/periarteritis and general IgG4-RD subjects. A total of 52 polymorphisms in 25 genes were evaluated, including 13 polymorphisms in the 4 genes of the major histocompatibility complex (MHC) complex. The other genes are involved in different pathways. Conclusion: While MHC associations remain the strongest and most consistent across studies, our review identifies emerging non-MHC genetic loci such as KCNA3, CTLA4, PRSS1, and VPS13B, suggesting distinct immune- and tissue-specific pathways in different IgG4-RD phenotypes.<\/jats:p>","DOI":"10.1159\/000548893","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T16:01:12Z","timestamp":1760371272000},"page":"1-13","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Association in Immunoglobulin G4-Related Disease: A Systematic Review"],"prefix":"10.1159","author":[{"given":"Kenneth Ka","family":"Hei Lai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tung","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline Yuen","family":"Tsing Ho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pancy Oi","family":"Sin Tam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li Jia","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clement Chee","family":"Yung Tham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi Pui","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelvin Kam","family":"Lung 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