@inbook{7c5cb4309ff34980851f15853e8ba590,
title = "Immunogenetics of Celiac Disease",
abstract = "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{\textquoteright}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.",
author = "{de Haas}, Esther and Vinod Kumar and Cisca Wijmenga",
year = "2014",
month = oct,
day = "1",
doi = "10.1007/978-1-4614-8560-5_5",
language = "English",
isbn = "978-1-4614-8559-9",
series = "Clinical gastroenterology",
publisher = "Springer",
pages = "53--66",
editor = "Rampertab, {S. Devi} and Mullin, {Gerard E.}",
booktitle = "Celiac Disease",
}