Evidence that celiac disease is primarily associated with a DC locus allelic specificity

Tosi, Roberto; Vismara, D; Tanigaki, Nobuyuki; Ferrara, Giovanni Battista; Cicimarra, Filippo; Buffolano, Wilma; Follo, Daniela; Auricchio, Salvatore

doi:10.1016/0090-1229(83)90106-x

Cited by 195 publications

(65 citation statements)

References 20 publications

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“…These data are consistent with the current view that in all three diseases at least one disease susceptibility gene is associated with one HLA haplotype and another with the second haplotype specifically DR3 and DR4 in IDDM, DR3 and DQwl/DR2 in DH, and DR3 and DR7 in CD. It is interesting to note that in CD the DQw2 antigen is possibly more important for susceptibility DR3 and/or DR7, confirming the findings of Tosi et al (26). Thus in DH and CD the serological data is consistent with the view that at least for one haplotype the susceptibility gene resides closer to DQ than DR.…”

Section: Discussionsupporting

confidence: 80%

HLA class II alpha chain gene polymorphisms in patients with insulin-dependent diabetes mellitus, dermatitis herpetiformis, and celiac disease.

Hitman¹,

Niven²,

Festenstein³

et al. 1987

J. Clin. Invest.

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We have investigated DNA polymorphism of the class Ha chain genes in HLA typed patients with insulin dependent diabetes mellitus (IDDM; n = 79), celiac disease (CD-, n = 46), dermatitis herpetiformis (DH; n = 53), and controls (n = 86). Preferential allelic associations of HLA genes and gene products have thus been constructed for susceptibility to these diseases. DRa and DQa gene polymorphisms indicated heterogeneity of HLA DR3, DRw6, and DR7, and HLA DR2 and DRw6, respectively. In DR7 positive CD patients a 3.8-kilobase (kb) DRa fragment, which correlated with DQw3, was found in only 11% of patients compared with 45% of corresponding controls (P < 0.05). An increased frequency of a DXa genotype UU in all three diseases was found (IDDM 59%, DH 45%, CD 48%, compared to 21% in controls, P < 0.001), which is not explained solely by the increased frequencies of DR3-DXaU. We therefore conclude part of the genetic susceptibility for these three conditions is encoded by genes within the DQ-DX subregion.

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Section: Discussionsupporting

confidence: 80%

HLA class II alpha chain gene polymorphisms in patients with insulin-dependent diabetes mellitus, dermatitis herpetiformis, and celiac disease.

Hitman¹,

Niven²,

Festenstein³

et al. 1987

J. Clin. Invest.

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“…Most coeliac patients, in fact, carry the serological haplotypes DR3-DQw2 and/or DR7-DQw2 (Tosi et al, 1983;Corazza et al, 1985;Tiwari &Terasaki, 1985), whereas patients negative for these haplotypes carry DR4-DQw3 (Tosi et al, 1986), Restriction fragment length polymorphism (RFLP) analysis of HLA-DQ genes has shown that coeliac disease is strongly associated with a DQ A allele (Roep et al, 1988) and with a particular DQ a/P heterodimer, encoded by a combination of DQ A1 *0501 and DQ B1 *0201 alleles (Sollid et al, 1989;Bodmer, Marsh & Albert, 1990), Recently, an association with some DP B alleles has been also reported (Bugawan et al, 1989;Kagnoff e/ at., 1989;Colonna et al, 1990) but it seems to be secondary to that with DQ alleles (Spurkland et al, 1990), In order to elucidate further the genetic association between coeliac disease and HLA-DQ genes, we have analysed by polymerase chain reaction (PCR) amplification the allelic variability ofthe highly polymorphic second exon ofthe HLACorrespondence: Prof, G, R, Corazza, I Patologia Medica, Policlinico S, Orsola, Via Massarenti 9, 40138 Bologna, Italy, DQ Al gene in 20 adult coeliac patients. Since the DQw2 specificity is also present in 20-30% of Caucasian healthy subjects (Baur et at., 1984;Corazza et al, 1985), the results have been compared with those obtained in 20 HLA-D-matched healthy controls.…”

Section: Introductionmentioning

confidence: 99%

Molecular analysis of HLA-DQ A alleles in coeliac disease lack of a unique disease-associated sequence

Mantovani

Corazza²,

Ángelini³

et al. 1991

Clinical and Experimental Immunology

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SUMMARYSusceptibility lo coeliac disease is strongly associated with some HLA class IF antigens, encoded by the HLA-D region. Since the HLA-DQ locus seems to be primarily involved, we have analysed by polymerase chain reaction amplification and allele-specific oligonucleotide hybridization the most polymorphic region ofthe HLA-DQ Al gene. No difference was observed between the 20 coeliac patients and 20 HLA-D-matched healthy controls who took part in the study. Furthermore, in patients and controls, the restriction fragment length polymorphism analysis ofthe HLA-DQ A gene using the restriction enzyme BglW did not disclose any specific disease-associated fragment. Our results are not consistent with a unique DQ A coeliac disease-associated sequence, but rather with the hypothesis that some polymorphic residues or allelic hypervariable regions, although found also in the normal population, can predispose to coeliac disease due to their higher frequency in this condition.

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“…Another study (Odetti et al, 1998), revealed that in 40% of the population, the presence of this haplotype is essential for the development of CD and lack of these alleles, therefore, eliminates the diagnosis. Tosi et al (1983) found DQ2, especially in combination with HLA-DQA1*0501 and HLA-DQB1*0201, together coding for the HLA-DQ2 (A1*0501, B1*0201) heterodimer as the major determinant in the development of CD. Tully (2008) reported that CD may develop in persons carrying HLA-DQ2 and/or HLA-DQ8 genes.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients

et al. 2014

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ABSTRACT. Celiac disease (CD) is a multifactorial, inflammatory small bowel disorder characterized by nutrient malabsorption resulting from mucosal damage, the latter induced by cereal products like barley, oat, and wheat. Oxidative stress has previously been reported to play an important role in the pathogenesis of CD. In the present study, we aimed to evaluate the frequency of polymorphisms that affects the structure of the enzymes superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), with levels being dependent on the amount of oxidative stress and whether or not there is an association with the mutations DQA1*0501, DQB1*0201, and DRB1*04 that are frequently reported for CD. SOD and GSH-Px polymorphisms were investigated by realtime quantitative polymerase chain reaction in 265 cases. Of the 117 cases that had at least one of DQA1*0501, DQB1*0201, or DRB1*04, 98 (83.75%) also had SOD enzyme polymorphisms and 68 (58.12%) also had GSH-Px polymorphisms. In conclusion, although the etiology of CD is not yet entirely clear, many mechanisms have been suggested. This study supports the notion that SOD and GSH-Px polymorphisms are involved in CD development, even though our findings were not Antioxidant enzyme polymorphisms in celiac disease statistically significant, and, furthermore, are influenced at various levels. SOD polymorphisms and activities were more frequently identified than those of GSH-Px.

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Evidence that celiac disease is primarily associated with a DC locus allelic specificity

Cited by 195 publications

References 20 publications

HLA class II alpha chain gene polymorphisms in patients with insulin-dependent diabetes mellitus, dermatitis herpetiformis, and celiac disease.

HLA class II alpha chain gene polymorphisms in patients with insulin-dependent diabetes mellitus, dermatitis herpetiformis, and celiac disease.

Molecular analysis of HLA-DQ A alleles in coeliac disease lack of a unique disease-associated sequence

Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients

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