Search PubMed⌕ Search

PubMed · 3093956

[Celiac disease].

Abstract

Coeliac disease (CD) is a malabsorption syndrome mediated by gluten toxicity. In almost all populations studied CD is strongly associated with HLA.DR3 and to a lesser extent with DR7, the frequency of DR2 is often low. There is a highly significant excess of DR3/DR7 heterozygotes. Although the association of CD with HLA has been known for 15 years the mode of transmission is poorly understood. In multiple case families the segregation of haplotypes is in favour of a recessive mode of inheritance with low penetrance. The rare cases of CD negative for DR3 and DR7 are positive for DR4 and negative for DQw2, ruling out the intervention of DQw2 by linkage disequilibrium. A recent study tends to show an hyporesponsiveness of T lymphocytes from patients to an antigenic extract of gluten.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

H Betuel, L Gebuhrer. 1986. [Celiac disease].. https://pubmed.ncbi.nlm.nih.gov/3093956/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

Involvement of macrophage migration inhibitory factor gene in celiac disease susceptibility.

The MIF gene has been associated with several diseases with inflammatory and autoimmune background, such as ulcerative colitis, rheumatoid arthritis and systemic lupus erythematosus. We aimed at testing the influence of two functional MIF promoter variants in celiac disease (CD) susceptibility. A (CAAT)(5-8) tetranucleotide repeat at position -794 and a single-nucleotide polymorphism at -173G/C were analyzed in the Spanish population (531 patients and 887 healthy controls). chi(2) statistics or Fisher exact test were used for comparisons. The -173C allele significantly increased risk ((CC+GC) vs GG: odds ratio (OR) (95% confidence interval (CI))=1.41 (1.10-1.81); P=0.005), as did carriage of the (CAAT)(7) allele (OR (95% CI)=1.36 (1.02-1.82); P=0.03) and of the haplotype (CAAT)(7)//-173C (OR (95% CI)=1.33 (1.00-1.76); P=0.04). Our data evidence for first time the role of the MIF gene increasing predisposition to CD. A common effect of MIF variants seems to underlie the etiology of these complex conditions.

Celiac Disease↗

Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4.

Genome-wide scans have detected linkage to celiac disease (CD) in several genomic locations, including 19q13.4. Killer immunoglobulin-like receptor (KIR) genes map to the region and encode receptors of natural killer (NK) cells and certain T cells that modulate cytolitic activity through interactions with HLA class I ligands, participating in the innate immune response. We performed KIR genotyping in a group of 70 CD patients of Basque origin and compared gene content, genotype and haplotype frequencies to ethnically matched blood-donors. The frequency of gene combination KIR2DL5B(+)/KIR2DL5A(-) was significantly higher in the disease group, and this result was confirmed in a second group of 343 CD patients and 160 controls of Spanish origin, suggesting an implication of this 'unexpressed' gene with increased susceptibility to CD (combined OR of 3.63 (95% CI: 1.76-7.51; P=0.0004)), possibly due to the lack of an efficient inhibitory signal. Our results support the role of the KIR gene cluster in celiac disease and replicate the CD-susceptibility locus at 19q13.4.

Celiac Disease↗