MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201

López-Vázquez, Antonio; Rodrigo, Luı́s; Fuentes, Dolores; Riestra, Sabino; Bousoño, Carlos; García-Fernández, Sonia; Martínez‐Borra, Jesús; González, Segundo; López‐Larrea, Carlos

doi:10.1136/gut.50.3.336

Cited by 80 publications

(52 citation statements)

References 33 publications

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“…15 Association of the MICA gene polymorphism in a DQ2-positive population has been reported twice, but the control DQ2 groups were small in both studies. 16,17 In addition, independent association of a single-nucleotide polymorphism (SNP) in the TNF gene region has been reported by several groups. [18][19][20][21] These results indicate the possibility of additional HLA risk loci in the TNF/MIC gene region.…”

Section: Discussionmentioning

confidence: 99%

“…However, it has been suggested that non-class II loci also predispose to coeliac disease, independently of DQ2. [15][16][17][18][19][20][21] The aim of this study was to test whether there was evidence for the presence of additional HLA susceptibility loci for coeliac disease on DQ2-positive haplotypes from patients of Dutch origin. In all, 16 markers, covering the entire HLA region and flanking regions, were genotyped in simplex coeliac disease and in control families.…”

Section: Introductionmentioning

confidence: 99%

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Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients

et al. 2004

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The major genetic susceptibility to coeliac disease is contributed by the human leukocyte antigen (HLA) region. The primary association is with the HLA-DQ2 molecule, encoded by the DQA1*05 and DQB1*02 alleles, which is expressed by over 90% of patients. The aim of our study was to perform an extensive scan of the entire HLA region to determine whether there is evidence for the presence of additional HLA susceptibility genes for coeliac disease in the Dutch population, acting independently of DQ2. In all, 16 microsatellite markers and the DQA1 and DQB1 genes were genotyped in simplex cis DQ2-positive coeliac disease families and cis DQ2-positive control families. Allele frequencies of markers on phase-known DQ2-positive haplotypes transmitted to patients were compared to a combined group of DQ2-positive nontransmitted and control haplotypes, thereby controlling for the DQ2 contribution. No significant differences at any of the marker loci were detected, suggesting that DQ2 is the major HLA risk factor for coeliac disease. Individuals homozygous for DQ2 or heterozygous for DQA1*05-DQB1*02/DQA1*0201-DQB1*02 were found to be at five-fold increased risk for development of coeliac disease (Po10 À8 ). This risk seems to be conferred by the presence of a second DQB1*02 allele next to one DQA1*05-DQB1*02 haplotype, independently of the second DQA1 allele.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients

et al. 2004

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“…It has been proposed that this mechanism may also have an involvement in the development of inflammatory disorders of the gut. Investigations into the possible influence of MIC polymorphism in celiac disease, a gluten-sensitive enteropathy, suggest a causal role, [16][17][18] although similar studies of IBD have produced conflicting results. [19][20][21][22] In contrast to the MIC genes, NKG2D displays limited polymorphism 23 and has not previously been investigated in susceptibility to UC.…”

Section: Introductionmentioning

confidence: 99%

Killer Ig-like receptor (KIR) genotype and HLA ligand combinations in ulcerative colitis susceptibility

et al. 2006

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Killer immunoglobulin-like receptors (KIRs) are expressed on natural killer cells and some T-cell subsets and produce either activation or inhibitory signals upon binding with the appropriate human leucocyte antigen (HLA) ligand on target cells. Recent genetic association studies have implicated KIR genotype in the development of several inflammatory conditions. Ulcerative colitis (UC) is an inflammatory disorder of the colonic mucosa that results from an inappropriate activation of the immune system driven by host bacterial flora. We developed a polymerase chain reaction-sequence specific primer (SSP)-based assay to genotype 194 UC patients and 216 control individuals for 14 KIR genes, the HLA-Cw ligand epitopes of the KIR2D receptors and a polymorphism of the lectin-like-activating receptor NKG2D. Initial analysis found the phenotype frequency of KIR2DL2 and -2DS2 to be significantly increased in the UC cohort (P ¼ 0.030 and 0.038, respectively). Logistic regression analysis revealed a protective effect conferred by KIR2DL3 in the presence of its ligand HLA-Cw group 1 (P ¼ 0.019). These results suggest that KIR genotype and HLA ligand interaction may contribute to the genetic susceptibility of UC.

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“…The coexistence of T1DM and CD could be explained by a common genetic factor in the HLA region 60,61 or by molecular mimicry by which gliadin or tissue transglutaminase C activates T cells that are cross-reactive with various antigens. During active -cell destruction, transglutaminase C, which is expressed in pancreatic islets, might be presented in an immunogenic form.…”

Section: Genetic Determinants and Associationsmentioning

confidence: 99%

Celiac disease and diabetes mellitus type 1.

Szalecki¹,

Albrecht²

2012

Celiac Disease - From Pathophysiology to Advanced Therapies

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MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA10501/DQB10201

Cited by 80 publications

References 33 publications

Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients

Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients

Killer Ig-like receptor (KIR) genotype and HLA ligand combinations in ulcerative colitis susceptibility

Celiac disease and diabetes mellitus type 1.

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