Muniz Janaína Guilhem, Sdepanian Vera Lucia, Fagundes Ulysses
Faculdade de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
Arq Gastroenterol. 2016 Oct-Dec;53(4):267-272. doi: 10.1590/S0004-28032016000400011.
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.
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.
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.
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.
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.
乳糜泻是一种由麸质引起的永久性不耐受症,由T细胞介导的肠病表现出来,在普通人群中患病率很高。有证据表明乳糜泻存在很强的遗传易感性。
确定圣保罗献血者中遗传标记HLA-DQ2和HLA-DQ8的患病率,并检测HLA-DQ2和HLA-DQ8阳性献血者中的人重组组织转谷氨酰胺酶抗体IgA类。
共有来自圣保罗市和容迪亚伊的404名献血者纳入研究并签署知情同意书。收集过去3个月内有关腹泻、便秘和腹痛的信息。对所有参与者进行HLA-DQ2和HLA-DQ8等位基因的测定,仅对呈现DQ2和/或DQ8的献血者检测人重组组织转谷氨酰胺酶抗体IgA类。
49%(198/404)的受试者HLA-DQ2和/或HLA-DQ8呈阳性。阳性样本与DR3、DR4、DR7、DR11和DR12等位基因相关。最常见的基因型是DR4-DQ8,占样本的13.6%,其次是杂合子中带有DQB1*02的DR3-DQ2和DR7-DQ2基因型,分别占10.4%和8.7%。198名阳性献血者中有11名(5%)人组织转谷氨酰胺酶检测呈阳性。
我们观察到圣保罗献血者中乳糜泻的遗传标记HLA-DQ2和HLA-DQ8患病率很高,与欧洲报道的患病率相似。这些发现表明,乳糜泻在我国的患病率不应罕见,而是诊断不足。