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)

Coeliac disease is an autoimmune disease of the intestinal mucosa, elicited by ingestion of wheat gluten in genetically susceptible individuals. Susceptibility to coeliac disease has been associated with the serologically defined variants DR3 and DR7 of the class II antigens encoded by the HLA-D region. Three related class II antigens, each consisting of an alpha and a beta glycoprotein chain, have been identified and are designated HLA-DR, HLA-DQ, and HLA-DP. These highly polymorphic transmembrane proteins bind peptides derived from the processing of foreign antigens and present them to T lymphocytes; they also influence the specificity of the mature T-cell repertoire. The role of HLA-DP polymorphism in susceptibility has not been as fully explored as that of the other class II antigens because of the complexity of the primed lymphocyte typing (PLT) method for determining DPw specificities. Here we use a new DNA-based method of HLA-DP typing to analyse the distribution of DP beta alleles in a group of coeliac disease patients and healthy controls. Two specific DP beta alleles (DPB4.2 and DPB3) are increased in the patient population. Comparison of the DP beta sequences suggests that the polymorphic residues at position 69 and at 56 and 57 may be critical in conferring susceptibility. Further, the contribution of the susceptible DP beta alleles appears to be independent of linkage to the previously reported DR3 and DR7 markers for coeliac disease. The distribution of DQ alpha and beta alleles in patients suggests that a specific DQ heterodimer may be responsible for the observed DR associations. Individuals with both this DQ antigen and a specific DP beta allele are at increased risk for coeliac disease.
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PMID:A combination of a particular HLA-DP beta allele and an HLA-DQ heterodimer confers susceptibility to coeliac disease. 249 67

In the present study Latin-American celiac disease patients were analyzed for the frequency of certain HLA class II restriction fragment length polymorphisms in order to investigate whether they exhibited the normal associated alleles or showed unusual class II variants. A DPB/RsaI 4.0-kb fragment that was shown to be significantly increased among North Americans celiac disease patients of the DR3,DQw2 haplotype was found with similar frequency in Latin-American control and celiac disease individuals. A DPA/BglII 3.7-kb fragment previously shown to be increased among British celiac disease patients was also present with similar frequency among Latin-American control and celiac disease individuals. These results show that the frequency of the HLA-DP region-derived restriction fragment length polymorphisms linked to celiac disease differs between Caucasian populations of different ethnic backgrounds (Anglo-Saxon and Latin-American). On the other hand, DNA samples from 13 patients and 14 controls bearing the DR5/DR7 phenotype (which is significantly associated with celiac disease in Latin populations) were investigated for the presence of particular restriction fragment length polymorphisms disproportionally present in celiac disease individuals. No significant differences were found between controls and patients when the DNA was analyzed with 10 different restriction enzymes and probes for DRB, DQA, DQB, and DPB HLA class II sequences.
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PMID:Restriction fragment length polymorphism in HLA class II genes of Latin-American Caucasian celiac disease patients. 257 90

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.
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PMID:[Celiac disease]. 309 56

A group of 69 unrelated Australian coeliac subjects (41 adult onset and 28 childhood onset) were typed for for HLA-A, B, DR and DQ antigens. Immunoglobulin allotypes were also determined in 36 of these patients. An association between coeliac disease and the antigens DR3, DR7 and DQw2 was confirmed in this population. There was no significant difference in antigen frequencies between childhood and adult onset coeliac disease, although the association with DR7 was stronger in the childhood group. All coeliac patients who did not carry DR3 or DR7 were found to be DR4 positive. No association was demonstrated between coeliac disease and any immunoglobulin allotype, either in the absence of HLA antigens B8 and DR3 or in male coeliac patients.
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PMID:Genetic markers in Australian Caucasian subjects with coeliac disease. 311 2

HLA antigens (A, B, C and DR loci) were studied in 62 IgA-deficient (IgAd) paediatric patients: 17 with coeliac disease (CD), 13 with juvenile arthritis (JA), 27 with frequent respiratory tract infections (RTI) and five with other diseases. The frequencies of HLA antigens in IgAd patients were compared with those in healthy blood donors, and in CD and JA patients with normal serum IgA levels. The IgA deficiency in the patients showed significant associations with HLA A1, B8, B13, Cw6, DR3 and DR7 (P less than 0.0005, P corr less than 0.02 vs controls) and decreased frequencies of DR2 (P less than 0.0005, P corr less than 0.02 vs controls). The HLA associations typical of coeliac disease, increased frequencies of HLA-B8 and DR3, were evident among the IgAd coeliacs; in contrast to the coeliacs with normal IgA levels, the IgAd coeliacs showed a significant increase of the HLA-Cw6 allele (P less than 0.0005, P corr less than 0.02 vs control coeliacs). Increased frequencies of HLA-A1, B8, B13, Cw6, DR3 and DR7 were noted in the patients with RTI, which can be explained by the frequent occurrence of the haplotypes A1, B8, DR3 and B13, DR7, the latter haplotype often also having the Cw6 allele. Among the IgAd JA patients, the antigen frequencies were similar to those in the JA patients with normal serum immunoglobulins.
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PMID:HLA antigens in IgA deficient paediatric patients. 321 38

The expression of celiac disease is assumed to be influenced by both genetic and environmental factors. Our study investigated the prevalence and HLA type in two different ethnic groups: a German group and an Italian group living in South Tirol. Intermarriages are rare between these population groups. The live birth rate during 1973-1982 (10 years) was 42,739 for the German group and 14,874 for the Italian group. Fifty people with celiac disease, born during this period, were diagnosed according to the ESPGAN criteria: 45 were German and five were Italian. The incidence in the German group was 105 per 100,000, and 33 per 100,000 in the Italian group. HLA typing was performed in 40 patients, and in 50 German and 50 Italian controls. Of the patients with celiac disease, 43% were positive for HLA B8, 85% for DR3, and 66% for DR7. Although lower, no difference was found in the expression of HLA B8, DR3, and DR7 in the Italian and German controls. The data presented here strongly suggest that there is little association between the incidence of the disease and HLA type in the two ethnic populations. However, from preliminary data, it is postulated that the age of the infant when gluten is added to its diet will affect the incidence of celiac disease.
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PMID:Celiac disease in two different population groups of South Tirol. 326 Feb 80

Wheat, oat, rye and barley flours are toxic for celiac patients. Prevalence and incidence of Celiac Disease (CD), quite variable from country to country, are very high in Austria (1 out of 476 born alive) and low in France (1 out of 41.667 born alive). This difference is probably due to its multifactorial genesis. In a multicentric Italian study, histocompatibility antigens of HLA complex II were typed in 460 CD children. DR3 was present in 63% of the cases (Relative Risk = RR: 6.8), DR7 in 67% (RR: 3.8) and DR3/DR7 in 22.5% (RR: 10.5), while in 7.7 of patients both antigens were absent. Therefore in a certain percentage of CD patients these risk antigens are absent, while in the normal population they can be present. The probability of CD increases when HLA DR3 and DR7 are present (but their absence cannot exclude the disease. The main etiological factor is gluten and its fractions (B, B1, B2, fraction 9 etc.). It seems that breast feeding can prevent or delay the onset of CD, while the age at gluten introduction does not modify the risk. Pathogenetic mechanisms are still under discussion: 3 theories are under investigation. 1) Enzymatic theory: a proteolytic enzyme for gluten digestion could be lacking. This theory is not yet proven, while Bruce et al. found in the jejunal mucosa of CD patients an elevation of a transglutaminase, which binds the gluten to enterocytes. Its level does not seem to vary with the diet. 2) Lectinic theory: the gluten bind the enterocyte membrane by a lectinic mechanism and damage it.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Up-date on the etiopathogenesis of celiac disease]. 328 51

One hundred and twenty-one Italian children with coeliac disease (CD) have been compared with a control population from the same geographical area for the distribution of HLA-DR and DQ antigens. The pattern of an increase in DR3, DR7, and of heterozygotes DR5/7 was associated with an excess of heterozygotes DQw2/DQw3 in the CD population. These findings suggest that epitopes determined by specific combinations of DQ alpha and beta chains (combinatorial determinants) predispose to the disease.
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PMID:A study of HLA class II antigens in an Italian paediatric population with coeliac disease. 339 69

In 6 type 1 (insulin-dependent) diabetics, treated with insulin since the age of 2 to 35 years (mean 12), coeliac disease was diagnosed between the 10 th and 73 th years of age (mean 26). Five were of North African origin. Digestive symptoms and severe malnutrition were present in all of them, associated, in the two younger, with a major growth retardation and, in one, multiple pathologic fractures. Biopsy of the small intestine demonstrated, in all, total or subtotal villous atrophy. The metabolic control of diabetes was poor, with frequent hypoglycaemic attacks, induced by minute insulin doses. Severe chronic complications of diabetes were detectable in all of them. Plasma anti-reticulin antibodies were present, at high titer before starting the gluten-free diet, declining slowly after starting this diet, and negative in the patients who followed this diet. Among the genetic markers (which were determined in 4), HLA A1 was present in 4, B8 and DR3 in 3 and DR4 in 3. The DR7 was not detected. The gluten-free diet, memorized by the patients by the use of simple rules, improved the digestive symptoms, and insulin doses could then be increased. The overall prognosis remained poor, due to diabetic complications and sociologic desinsertion. Coeliac disease occurs in 1 to 2% of type 1 diabetics and 4-6% of the coeliac patients are diabetics. Diabetic subjects from North Africa are at high risk of this association. Misdiagnosis of the coeliac disease compromises the metabolic control and nutritional state.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Adult celiac disease and type 1 diabetes: a severe and sometimes unknown genetic association]. 342 65

Forty two white patients of British or Irish descent with coeliac disease and 28 with dermatitis herpetiformis were typed for class I HLA-A, B, and C, and class II DR and DQ antigens. In coeliac disease there was a significant increase in the frequencies of A1, B8, DR3, DR7, and DQw2 compared with controls but no increase of DR2. In dermatitis herpetiformis there were similarly increased frequencies of A1, B8, DR3, and DQw2. In contrast with coeliac disease, however, the frequency of DR7 (18%) was no different from the control group but there was an increased frequency of DR2.
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PMID:Different HLA associated gene combinations contribute to susceptibility for coeliac disease and dermatitis herpetiformis. 345 50


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