Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007570 (celiac disease)
 13,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

HLA antigens and various aspects of atopy were studied in 42 Finnish children and adolescents with coeliac disease, and the results were compared with findings of recent population studies. The HLA associations were as expected: relative risks for coeliac disease in individuals with HLA-B8, DR3, and DR7 were 8 . 0, 18 . 6, and 15 . 0, respectively. Children with coeliac disease were significantly more often atopic than unselected schoolchildren. Atopy was significantly more frequent and the onset of coeliac disease later for B8/DR3- patients than B8/DR3+ patients. There was no obvious relation between DR7 and atopy. It is concluded that atopy predisposes to coeliac disease partly independently of the HLA-DR3 associated disease susceptibility gene(s), and that different mechanisms may operate in the pathogenesis in coeliac disease patients with and without atopy.
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PMID:HLA antigens and atopy in children with coeliac disease. 660 Oct 40

The DR-locus controlled B-cell antigens were studied in 163 unrelated Spanish coeliac children and 68 families of this group, nine of them with more than one coeliac patient, to obtain more information about the association between these antigens and coeliac disease. The results show that the most common coeliac phenotypes are DR3/DR7, DR7/DR5, DR3/other DR, and DR3/DR3. The family study confirmed the segregation of the disease with the above mentioned phenotypes. In eight of the nine multiple case families, all coeliac children shared both HLA-DR antigens. These findings make it unlikely that a single dominant gene linked to HLA-DR controls the susceptibility to coeliac disease. The phenotypes in the patients were not distributed according to the Hardy-Weinberg equilibrium. Thus, a model based on one recessive susceptibility gene linked to HLA-DR is not probable either. The complexity of the genetics of coeliac disease and some of the features shared with the HLA-DR pattern in juvenile insulin-dependent diabetes are discussed.
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PMID:HLA-DR phenotypes in Spanish coeliac children: their contribution to the understanding of the genetics of the disease. 660 84

The association of HLA-A,B,C, DR polymorphisms and of Bf and GLO with coeliac disease was analysed in 100 Italian children. Primary involvement of HLA-DR3 and DR7 is apparent, while specificities of nearby loci are probably associated secondarily, because of linkage disequilibrium. Direct assessment of D/DR genotype through family studies and mixed lymphocyte cultures led to the recognition of two high risk genotypes DR3/3 and DR3/7, and of two lower risk genotypes DR3/X and DR7/X. The different weight of the HLA-dependent genetic factors is to some extent correlated with the clinical and immunological parameters, suggesting that the low-risk genotypes induce a milder expression of coeliac disease. Furthermore, other genetic factors, such as sex, appear to contribute to the penetrance of the disease, especially in the case of DR3/X and DR7/X.
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PMID:HLA-DR3 and DR7 in coeliac disease: immunogenetic and clinical aspects. 660 91

Coeliac disease (CD) is strongly associated with the human class-II HLA determinants HLA-DR3 and -DR7. We investigated the relative frequency of gluten-reactive T cells from DR3- or DR7-positive. CD patients and healthy controls who were heterozygous at the DR locus. We found a consistently and significantly lower frequency of gluten-reactive T cells when the antigen was presented by monocytes in conjunction with DR3 or DR7 than in conjunction with the other DR determinant of the T-cell donor. In contrast, the frequency of reactive T cells in these donors to other antigens was not reduced in conjunction with DR3 or DR7. These results indicate a specific immunoregulatory function associated with class-II HLA molecules. The reduced frequency of gluten-reactive T cells in association with HLA-DR3 or -DR7 may be directly involved in the development of CD.
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PMID:HLA-DR3- and HLA-DR7-restricted T-cell hyporesponsiveness to gluten antigen: a clue to the aetiology of coeliac disease? 660 52

Tissue typing (HLA-A, -B and -DR) was carried out on 92 patients with coeliac disease (CD) and on a further 71 first degree relatives of 13 of these patients. Results of antigen frequencies in unrelated patients and segregation analysis in families shows that HLA-DR3 but not HLA-DR7 is positively associated with CD. Haplotype and sib-pair data from these coeliac families suggest that with all of them, genetic susceptibility to CD lies in the HLA region of the sixth chromosome. In families where the coeliac proband has HLA-DR3, the relative risk to siblings who also have this antigen is increased 35 times.
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PMID:Family and population studies of HLA and coeliac disease in the West of Ireland. 663 10

The association between childhood celiac disease and the histocompatibility complex was studied in five multiply affected families and 20 unrelated patients. The diagnosis of celiac disease (CD) was established by three consecutive jejunal biopsies: 1) at the initiation of the diagnosis; 2) following a gluten-free diet; and 3) after gluten provocation. The results of this study indicate that a significant association exists between celiac disease, DR3 (P less than 0.001) and DR7 (P less than 0.001). The relative risks for these antigens were 8.56 and 5.05, respectively. Segregation analysis in the families suggested that the susceptibility genes associated with the histocompatibility antigens are not inherited in either a dominant or a recessive pattern. While an intermediate type fits better into the genetic framework of CD, more than one susceptibility and protecting gene may be involved in the pathogenesis of this disease.
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PMID:Immunogenetics of childhood celiac disease: the association with HDA DR3 and DR7 in unrelated patients with multiply affected families. 679 85

The association between HLA and coeliac disease (CD) was studied in the Jewish population of Israel. A total of 112 patients were typed for HLA-A,B,C antigens, including 67 patients whose families were typed in order to deduce the genotypes. Forty-seven patients were typed for HLA-DR antigens. The HLA-A,B,C data show a pattern of association, which is similar to that found in European CD patients: HLA-B8 is increased, although to a lower degree; a suggestive, insignificant increase for Aw30, B13 and Cw6 and a decrease of Bw35 were noted. The DR antigens DR3 and DR7 are associated with CD in the Jewish population. An excess of DR3/DR7 heterozygotes was noted. The data from family and population studies support a model in which two different HLA-DR associated genes are interacting.
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PMID:Histocompatibility determinants in Israeli Jewish patients with coeliac disease: population and family study. 694 7

A follow-up study of 18 patients with celiac disease is reported. Adherence to the diet, blood chemistry and serum amino acid concentration were investigated in all patients. In addition, HLA blood group typing was performed. Ten patients agreed to undergo jejunal biopsy, xylose test and X-ray of the small intestine. The jejunal mucosa showed no complete restitution even in patients on a strict diet and function tests were abnormal, too. In this study HLA typing demonstrated an association with HLA-B8, HLA-DR3, and HLA-DR7. The results of the follow-up study are discussed with special reference to therapeutic aim and definition of therapeutic success of the gluten-free diet. In addition, a case of jejunal adenocarcinoma complicating celiac disease is presented.
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PMID:Follow-up of treated adult celiac disease: clinical and morphological studies. 709 32

Celiac disease (CD) is a small intestinal disorder characterized by the malabsorption of most nutrients. Disease pathogenesis appears to be associated with immune-mediated pathology. Susceptibility is associated with genes coding for DQw2 class II molecules. In the present report we investigated T cell responses to A-gliadin (AGL), a major alpha-gliadin component known to activate disease. Gliadin-specific lines were generated from a CD patient and a normal donor. Three major points were revealed by the analysis of these T cells: (1) On the basis of mapping experiments using Epstein-Barr virus (EBV) lines and DR-transfected fibroblasts and DR-, DP-, and DQ-specific monoclonal antibodies (mAb), all responses appeared to be DR-restricted. Thus, in contrast to the strong association of disease susceptibility with DQ molecules, no DQ-restricted, gliadin-specific response was detectable. (2) Fine specificity analysis, using a panel of synthetic peptides spanning the entire alpha-gliadin component molecule, revealed that the clones derived from the normal donor were DR53-restricted and AGL 21-40-specific, while clones derived from the CD patient were DR7-restricted and peptide 1-20-specific. (3) Both whole AGL and AGL 1-20 were presented to the patient-derived clones with much higher efficiency by DDR-transfected fibroblasts than by EBV lines. These data suggested that fibroblasts processed this determinant efficiently, while EBV lines were unable to do so. Indeed, analysis of a panel of truncated AGL 1-20 analogs revealed that peptide AGL 1-8, which contained the minimal T cell epitope, was presented with equal efficiency by fixed or irradiated EBV and irradiated DR7-transfected fibroblasts.
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PMID:Peripheral T cell response to A-gliadin in celiac disease: differential processing and presentation capacities of Epstein-Barr-transformed B cells and fibroblasts. 751 Oct 85

Susceptibility to developing CD is widely accepted to be primarily associated with a particular HLA-DQ alpha beta heterodimer encoded by the DQA1*0501 and DQB1*0201 alleles in cis position on the DR3,DQ2 haplotype or in trans position by DR5,DQ7/DR7,DQ2 heterozygotes. We performed genomic HLA-DR and -DQ typing of 100 unrelated Spanish celiac children and 180 ethnically matched controls. As expected, most (92 out of 100) celiac patients carried the HLA-DQ alpha beta heterodimer, and we selected these individuals for further studies. The results corroborate that although the DQA1*0501 and DQB1*0201 genes in single dosage appear sufficient for conferring disease susceptibility, individuals homozygotes for DQB1*0201 show an increased risk. Furthermore, our data also show that those carrying the genotype DR5,DQ7/DR7,DQ2 have a significantly increased risk of developing CD as compared to those that are non-DR7 positive, also carrying the CD-associated HLA-DQ alpha beta heterodimer. This strongly suggests that there is an MHC linked non-HLA-DQ gene primarily associated with CD present on DR7,DQ2 haplotype, which should either be DR7 or in strong linkage disequilibrium with it. Our data also indicate that, as has already been suggested, another HLA-associated CD susceptibility gene may be present on some DR4-carrying haplotypes.
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PMID:HLA-linked genes acting as additive susceptibility factors in celiac disease. 755 13


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