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

Abstract

-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.

Frequency of alleles associated with celiac disease in patients with autoimmune thyroid disease

“…Although the DQ8 alleles assessed in the aforementioned studies were not the same as in the present study, it is important to understand that susceptibility to CD is associated with the HLA system, especially with the DQA1*05 and DQB1*02 alleles, which encode the DQ2 molecule and the allele DQB1*0302, which encodes the beta chain of the DQ8 molecule. The DQ8 heterodimers are encoded by DQA1*0301 and DQB1*0302 alleles which, due to the binding imbalance, are transmitted together with the DRB1*04 allele, forming the haplotype known as DR4-DQ8, an allele analyzed in the present study [9].…”

“…When each symptom was analyzed separately with the presence or not of the allele, the association of this allele (DRB1*04) with abdominal distension was even greater (Table 5). However, it is known that gastrointestinal symptoms (abdominal distension, abdominal pain and diarrhea) are part of the typical form of CD [9].…”

“…Regarding the genetic factors, HLA conveys 40% of the genetic variance [8]. Most patients (90%) carry DQ2 heterodimers encoded by DQA1*05/DQB1*02 alleles and a minority (5%) carry DQ8 encoded by DQA1*03/DQB1*0302 and (5%) at least one of the two alleles DQ2 (usually the DQB1*0201) [9]. In view of the negative predictive value, HLA typing has been used as a screening tool for high-risk populations [10].…”

Accuracy of the clinical indicators of ineffective health management in celiac people

“…It is considered an underreported public health problem. Every eight individuals with the disease, only one has the medical diagnosis completed (1) .…”

Complicações Da Doença Celíaca Associada Ao Transgresso À Dieta Isenta De Glúten

“…Sendo possível a identificação da DC a partir da triagem sorológica destes anticorpos, quando encontrados em elevadas concentrações. Entretanto, o padrão ouro para confirmação do diagnóstico da DC é a biópsia da mucosa intestino delgado, a determinação do grau é avaliada concomitantemente com a escala Marsh 3 8,9 .…”