Related Experiment Video
Updated: Jan 15, 2026
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic Association in Immunoglobulin G4-Related Disease: A Systematic Review
Kenneth Ka Hei Lai1,2, Tung Tang1, Adeline Yuen Tsing Ho1
1Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong, China.
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), Clinicaltrials: gov" xmlns:xlink="http://www.w3.org/1999/xlink">www.
Clinicaltrials:
gov), 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.
More Related Videos
09:02Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
06:35An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis
Published on: February 8, 2019
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
01:29Autoimmune Disorders
Concept and Mechanism of Autoimmune Diseases
The immune...
01:15Transcytosis of IgG
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...