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Mol Genet Metab. 2000 Sep-Oct;71(1-2):76-80.

Genetics of celiac disease.

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  • 1INSERM UnitĂ© 535, Le Kremlin-BicĂȘtre, France.


Celiac disease (CD) is a chronic inflammatory disease of the gut resulting from ingestion of gluten, occurring in genetically susceptible individuals. The strong genetic association of CD with the DQ2 and DQ8 HLA heterodimers has been known for long, but others non-HLA genes are involved. In order to identify susceptibility genes to CD, several studies have been performed, based on either linkage analyses or candidate gene approaches. This review describes these different studies and their results. The hypothesis of the implication of the DR53 heterodimer in the HLA region has been proposed. The existence of a susceptibility locus on chromosome 5q has been evidenced through linkage analysis and candidate gene strategies have revealed the role of CTLA-4 and of the immunoglobulin gamma genes in the disease.

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