HLA-DQ and risk gradient for celiac disease

Megiorni, Francesca; Mora, Barbara; Bonamico, Margherita; Barbato, M.; Nenna, Raffaella; Maiella, G.; Lulli, Patrizia; Mazzilli, Maria Cristina

doi:10.1016/j.humimm.2008.10.018

Cited by 157 publications

(165 citation statements)

References 17 publications

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“…In these individuals, the frequency of the DQB1*02, DQA1*05 alleles and none of the two alleles were 66.7%, 23.1% and 10.2%, respectively, compared to 14.1%, 53.4% and 32.5% of controls. Thus, there was a positive association between CD and phenotype β2 (B1*02/X or B1*02/02) and a negative association to phenotype α5 (A1*0501 in the absence of DQB1*02) (23) .…”

Section: Discussionmentioning

confidence: 93%

“…Therefore in our study we may not detected any CD donor since we evaluate the anti-tTG antibody levels just in those donors positive to HLA-DQ2 and/or HLA-DQ8. However, a lot of studies showed a strong relation between this genetic markers to the development of CD and both studies aforementioned (16,23) showed the negative relation in less than 10% of the cases.…”

Section: Discussionmentioning

confidence: 95%

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

Muniz

Sdepanian

Neto

2016

Arq. Gastroenterol.

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-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.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 95%

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

Muniz

Sdepanian

Neto

2016

Arq. Gastroenterol.

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“…Considering disease prevalence in Spain of 1:118 in child population and 1:389 in adult population for each HLA category, "n" was calculated as a percentage of controls with that particular HLA status multiplied by 100 and divided by the percentage of patients with the same HLA typing (21,22).…”

Section: Methodsmentioning

confidence: 99%

Celiac disease and HLA-DQ genotype: diagnosis of different genetic risk profiles related to the age in Badajoz, southwestern Spain

Fernández-Cavada-Pollo¹,

Alcalá-Peña²,

Vargas-Pérez³

et al. 2013

Rev. esp. enferm. dig.

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“…Most of the remaining 5%-10% have a DQ haplotype comprised of DQA1*03 and DQB1*0302 (11,14,15), and nearly no patients with CD lack both of these DQ risk combinations. Studies have shown an increased risk in individuals homozygous for DQB1*02 (15)(16)(17) and an HLA-DQ risk gradient has been established for CD (Table 1) (18). Thus, screening for DQB1*02 and *0302 allows very sensitive, but not specific, identification of subjects at risk (19).…”

Section: Introductionmentioning

confidence: 99%

A new automated human leukocyte antigen genotyping strategy to identify DR-DQ risk alleles for celiac disease and type 1 diabetes mellitus

Lavant

Carlson

2009

Clinical Chemistry and Laboratory Medicine

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Background: The risk for type 1 diabetes mellitus (T1DM) and celiac disease (CD) is related to human leukocyte antigen (HLA) DQA1, DQB1 and DRB1 loci. Unfortunately, HLA typing has been too difficult and costly for frequent use. Automated genotyping focused on risk alleles could provide access to HLA typing in diagnostic evaluations, epidemiological screening and contribute to preventive strategies. Methods: A sequence specific primer amplification method requiring a total of four PCR reactions, one restriction enzyme digestion and a single electrophoretic step provides low to medium resolution typing of DQA1, DQB1 and DRB1 using Applied Biosystems 3730 DNA analyzer. The method was validated using 261 samples with genotypes determined using a reference method. Results: Specific fluorescent DQA1, DQB1 and DRB1 amplicons were of expected size. Concordance with the reference method was 100% for DQA1 and DQB1 alleles and 99.8% for DRB1 alleles. Conclusions: We have developed a high throughput HLA typing method that accurately distinguishes risk alleles for T1DM and CD. This method allows screening of several thousand samples per week, consuming 32 ng of DNA template, low reagent volumes and minimal time for data review. Clin Chem Lab Med 2009;47:1489-95.

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HLA-DQ and risk gradient for celiac disease

Cited by 157 publications

References 17 publications

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

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

Celiac disease and HLA-DQ genotype: diagnosis of different genetic risk profiles related to the age in Badajoz, southwestern Spain

A new automated human leukocyte antigen genotyping strategy to identify DR-DQ risk alleles for celiac disease and type 1 diabetes mellitus

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