Immunogenetics of Celiac Disease



Celiac disease (CD) is a model for common complex disorders with a high degree of heritability. The human leukocyte antigen (HLA) DQ genotype, specifically HLA-DQ2 and HLA-DQ8, is the strongest genetic risk factor. Genome-wide association studies (GWAS) have identified 57 single nucleotide polymorphisms (SNPs) located in the associated 39 non-HLA regions with mainly immunological functions. Together with HLA, these regions explain approximately 54 % of the disease’s heritability. Molecular functional analyses are necessary to delineate the true causal genetic variants and the pathways involved. Since CD shares many of its genetic susceptibility regions and implicated pathways with other immune-related diseases, a combined analysis may discover more common genetic variants with smaller effect sizes. HLA-DQ genotyping can already be used to exclude a diagnosis of CD, for example, as a test in the screening of individuals from high-risk groups, such as patients with type 1 diabetes or autoimmune thyroiditis, and first-degree relatives of CD patients. Discovering more genetic susceptibility variants and the pathways involved may ultimately contribute to risk stratification for follow-up and treatment, and lead to new therapeutic targets.
Originele taal-2English
TitelCeliac Disease
RedacteurenS. Devi Rampertab, Gerard E. Mullin
Plaats van productieNew York
Aantal pagina's14
ISBN van elektronische versie978-1-4614-8560-5
ISBN van geprinte versie978-1-4614-8559-9
StatusPublished - 1-okt.-2014

Publicatie series

NaamClinical gastroenterology
UitgeverijHumana Press
ISSN van geprinte versie2197-7399
ISSN van elektronische versie2197-7704

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