HLA-DR phenotypes in Spanish coeliac children: their contribution to the understanding of the genetics of the disease.

Mearin, M. L.; Biemond, I.; Peña, Amado Salvador; Polanco, Isabel; Vazquez, Carlos; Schreuder, GM T h; Vries, R R de; Rood, Jon J. van

doi:10.1136/gut.24.6.532

Cited by 168 publications

(97 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Similar risks were observed in other populations, although these studies were conducted in an ordinary case-control setting, in which haplotypes had to be estimated. [12][13][14] Recently, a family-based study using phase-known haplotypes also demonstrated increased risk for these two genotypes. 11 A possible explanation for the increased risk may reside in the number of DQ molecules capable of gluten presentation that arise from each genotype.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, the homozygous DQA1*05-DQB1*02/DQA1*05-DQB1*02 (DR3/3) and the heterozygous DQA1*05-DQB1*02/DQA1*0201-DQB1*02 (DR3/7) genotypes were shown to be associated with increased risk. [11][12][13][14] The extended HLA-DR3-DQ2 haplotype includes many other genes that play a role in the immune response and it cannot be excluded that another HLA gene also confers increased risk to coeliac disease. The HLA region is known to display extensive linkage disequilibrium (LD).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

et al. 2004

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…43 In siblings sharing identical HLA haplotypes, the CD pair-wise concordance is around 20-30%, suggesting importance of genes located outside HLA in disease susceptibility. 43,58,59 With current estimates of population prevalence (0.5 -1%) the relative risk has decreased, and ls is approximately 10 -20, ls (HLA) is around 5 and thus with a multiplicative model, 60 the non-HLA component ls (non-HLA) is 2 -4 and would confer a minor part of the total genetic component. However, these measurements should be taken with caution also considering that HLA is a necessary factor.…”

Section: Epidemiology Population Geneticsmentioning

confidence: 99%

Searching for genes influencing a complex disease: the case of coeliac disease

et al. 2007

View full text Add to dashboard Cite

Recently, a few genes have been reported to be causative in inflammatory diseases. Still, we are waiting for the vast majority to be discovered. New tools for genotyping and statistical analysis have been developed and emphasis has been put on study design. Coeliac disease (CD) is a disorder, where prolamins in dietary wheat gluten and related proteins from rye or barley are not tolerated. It is one of the most common chronic diseases in humans exceeding a population prevalence of 1%. In this article, we will summarise what is currently known about the genetics influencing CD with the emphasis on the non-HLA genetic component. We will discuss some difficulties when searching for susceptibility genes in disorders with complex inheritance patterns.

show abstract

“…The 12th tube of the reaction identifies the DQB1*02 allele in homozygous, which is an important information, because studies reveal that homozygous haplotype, increases patient´s susceptibility to develop CD (17,21,22) .…”

Section: Determination Of Hla Dq2 and Dq8mentioning

confidence: 99%

“…However, trans-positioned alleles, i.e., positioned in homologous chromosome, may also codify DQ2 heterodimer. This is the case of haplotypes DRB1*07-DQA1*0201-DQB1*0202 (DR7-DQ2) and DRB1*11-DQA1*0505-DQB1*03 (DR11-DQ2) (21,25,35) . DQ8 heterodimers are codified by alleles DQA1*0301 and DQB1*0302 and due to bonding unbalance, are transmitted together with allele DRB1*04, forming the haplotype known as DR4-DQ8 (17,36,38) .…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

Muniz

Sdepanian

Neto

2016

Arq. Gastroenterol.

View full text Add to dashboard Cite

-Background -Celiac disease is a permanent intolerance induced by gluten, which is expressed by T-cell mediated enteropathy, and has a high prevalence in the general population. There is evidence of a strong genetic predisposition to celiac disease. Objective -To determine the prevalence of genetic markers HLA-DQ2 and HLA-DQ8 in blood donors from São Paulo and measure human recombinant tissue transglutaminase antibody IgA class in HLA-DQ2 and HLA-DQ8 positive donors.Methods -A total of 404 blood donors from São Paulo city and Jundiaí were included in the study and signed the informed consent form. Information regarding diarrhea, constipation and abdominal pain in the last 3 months was collected. Determination of HLADQ2 and HLADQ8 alleles was performed in all participants and human recombinant tissue transglutaminase antibody class IgA was measured only in blood donors who presentedDQ2 and/or DQ8. Results -HLADQ2 and/or HLADQ8 were positive in 49% (198/404) of subjects. Positive samples were associated with alleles DR3, DR4, DR7, DR11 and DR12. The most frequent genotype was DR4-DQ8, which was present in 13.6% of samples, followed by genotypes DR3-DQ2 and DR7-DQ2 with DQB1*02 in heterozygous, which were present in 10.4% and 8.7%, respectively. Eleven out of 198 positive donors (5%) were positive to human tissue transglutaminase test. Conclusion -We observed a high prevalence of genetic markers for celiac disease, HLA-DQ2 and HLA-DQ8, in blood donors from São Paulo, similar to prevalence described in Europe. These findings show that the prevalence of celiac disease should not be rare in our country, but underdiagnosed.

show abstract

HLA-DR phenotypes in Spanish coeliac children: their contribution to the understanding of the genetics of the disease.

Cited by 168 publications

References 15 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

Searching for genes influencing a complex disease: the case of coeliac disease

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

Contact Info

Product

Resources

About