The Role of Genetics in Celiac Disease: A Review of the Genes Involved and Their Effects

Mahdie Arefi, Iraj Shahramian, Masoud Tahani, Anita Jahanpanah


Background :

Celiac disease (CD) is an enteropathy associated with a genetic disorder and several constitutive genes. This study examines the genes and factors affecting CD.

Materials and Methods:

This review was conducted on structured findings up to September 2023 regardless of language published according to the protocol of systematic review articles (PRISMA). To identify relevant studies, online searches were generally conducted in PubMed, Google Scholar, MEDLINE, and SCOPUS databases.


Many studies have been conducted on CD genes, and researchers have achieved good results. So far, 60 genomic loci related to CD have been discovered, which is the most important genetic loci of CD related to HLA(Human Leukocyte Antigen). Most of the gene loci identified in autoimmune diseases have pleiotropic effects and cause disruption of the immune system, which in turn causes CD.


According to the linkage studies conducted on genetic regions, the most important genetic positions identified in CD are HLA-DQ2 and HLA-DQ8. Due to the progress of genetic science and the uncertainty of the genomic position of this disease, they have not been able to use genetic science to prevent this disease. Considering the common genes that this disease has with other gastrointestinal diseases as well as thalassemia, there may be newer and more effective genetic approaches to treat this disease in the future.


Celiac disease; HLA; DQ2; DQ8; Genetics

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