Abstract
BackgroundCeliac disease has a strong genetic association with HLA. However, this association only explains approximately half of the sibling risk for celiac disease. Therefore, other genes must be involved in susceptibility to celiac disease. We tested for linkage to genes or loci that could play a role in pathogenesis of celiac disease.MethodsDNA samples, from members of 62 families with a minimum of two cases of celiac disease, were genotyped at HLA and at 13 candidate gene regions, including CD4, CTLA4, four T-cell receptor regions, and 7 insulin-dependent diabetes regions. Two-point and multipoint heterogeneity LOD (HLOD) scores were examined.ResultsThe highest two-point and multipoint HLOD scores were obtained in the HLA region, with a two-point HLOD of 3.1 and a multipoint HLOD of 5.0. For the candidate genes, we found no evidence for linkage.ConclusionsOur significant evidence of linkage to HLA replicates the known linkage and association of HLA with CD. In our families, likely candidate genes did not explain the susceptibility to celiac disease.
Highlights
Celiac disease has a strong genetic association with HLA
Candidate genes were selected based on function of those genes (i.e., T-cell receptors, CTLA4, and CD4) or from loci of associated diseases (i.e., insulin dependent diabetes mellitus (IDDM))
The multipoint heterogeneity LOD (HLOD) were obtained using the same model as the 2-point HLOD shown
Summary
Celiac disease has a strong genetic association with HLA. This association only explains approximately half of the sibling risk for celiac disease. Other genes must be involved in susceptibility to celiac disease. We tested for linkage to genes or loci that could play a role in pathogenesis of celiac disease. Celiac disease (CD) is a common, familial, autoimmune gastrointestinal disease. It is caused by sensitivity to the dietary protein gluten, which is present in wheat, rye and barley. Dermatitis herpetiformis is a cutaneous manifestation of CD. Complications of CD include lymphoma, osteoporosis, anemia, and seizures. Before the advent of serological testing for diagnosing CD, it was considered a rare disease in the US
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