Navegando por Palavras-chave "antígenos hla"

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    Prevalência da predisposição genética para doença celíaca nos doadores de sangue em São Paulo-Brasil
    (Universidade Federal de São Paulo (UNIFESP), 2014-05-30) Yoshida, Janaina Guilhem Muniz [UNIFESP]; Fagundes Neto, Ulysses Fagundes Neto [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Background: Celiac disease (CD) is an immune-mediated enteropathy caused by 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 strong genetic predisposition to CD. Objective: To determine the prevalence of genetic markers HLA-DQ2 and HLA-DQ8 in blood donors from São Paulo and to measure human recombinant tissue transglutaminase antibody class IgA in those blood donors with HLA-DQ2 and HLA-DQ8 positive. Methods: A total of 404 blood donors from São Paulo city and Jundiaí were included in the study and signed the informed consent form. Informed regarding about diarrhea, constipation and abdominal pain in the last 3 months were also colleted. The determination of the HLADQ2 and HLADQ8 alleles was performed by PCR in all participants and human recombinant tissue transglutaminase antibody class IgA was measured only in blood donors who had DQ2 and/or DQ8 positive. Results: The HLADQ2 and/or HLADQ8 were positive in 49% (198/404) of subjects, and 11 (5%) of them were positive to human tissue transglutaminase test. Conclusion: We conclude that the prevalence of genetic markers for CD, HLA-DQ2 and HLA-DQ8, in blood donors from São Paulo, was high and similar to that found in Europe. These findings show that the prevalence of CD should not be rare in our country, but underdiagnosed.
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    Prevalência de susceptibilidade genética para doença celíaca em familiares de primeiro grau de pacientes e sua associação com sintomas relacionados à doença celíaca
    (Universidade Federal de São Paulo (UNIFESP), 2013-05-16) Lopes, Leticia Helena Caldas [UNIFESP]; Sdepanian, Vera Lucia Sdepanian [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Objectives: To evaluate the frequency of genetic susceptibility to celiac disease (CD) among first-degree relatives of patients with the disease and diagnose potential cases of CD in these families. To evaluate the association of genetic susceptibility and symptoms related to CD and the association of homozygosity for DQB1*02 with the same symptoms. Methods: All first-degree relatives of 47 patients with a diagnosis of CD followed in pediatric gastroenterology outpatient clinic were invited to participate in the study. The participants answered a questionnaire about the presence of symptoms related to CD and underwent blood sampling for survey of HLA-related DC (Biodiagene, Italy), as well as for measurement of human recombinant tissue transglutaminase antibody class IGA (tTG IgA) in those with genetic susceptibility. Those familiar with abnormal result of tTG IgA were invited to perform endoscopy for small intestinal biopsy Results: Among 131 families, 114 (87.0%) participated in the study. Genetic susceptibility was observed in 85 of 114 families (74.5%) and the haplotype DR3DQ2 heterozygous for DQB1 * 02 was the most common. Abnormal results of tTG IgA were obtained in 8 of 85 (9.4%) families susceptible. Two families did not agree to pursue the investigation. The observed prevalence of CD was 6.2%. There was no association between genetic susceptibility and frequency of symptoms related to CD, as there was no association between homozygosity for DQB1 * 02 and the frequency of symptoms related to CD. Conclusions: The prevalence of genetic susceptibility to DC is high in first-degree relatives. There was no association between genetic susceptibility and symptoms related to DC, nor association of DQB1 * 02 homozygosity of these symptoms.