Department of Postgraduate Studies on Children and Adolescents' Health, Health Sciences Center, Federal University of Pernambuco.
Clinics (Sao Paulo). 2011;66(2):227-31. doi: 10.1590/s1807-59322011000200008.
AIMS: The aim of this study was to evaluate the frequencies of the HLA genotypes DQ2 and DQ8 and the alleles A105, A10201, B10201 and B10302 in individuals with celiac disease in Recife, northeastern Brazil. METHODS: HLA DQ2 and DQ8 genotyping was performed for 73 individuals with celiac disease and 126 first-degree relatives with negative transglutaminase serology. The alleles DQA105, DQA10201, DQB102 and DQB10302 were identified by sequencing using specific primers and the EU-DQ kit from the Eurospital Laboratory, Trieste, Italy and double-checked by the All Set SPP kit (Dynal). RESULTS: Among the 73 cases, 50 (68.5%) had the genotype DQ2, 13 (17.8%) had DQ8, 5 (6.8%) had DQ2 and DQ8, and 5 did not have any of these genotypes. Among the 5 negative individuals, four had the B102 allele and one did not have any of the alleles studied. B102 was the most frequent allele in both groups (94% in the patients and 89% in the control relatives). CONCLUSIONS: In this study, celiac disease was associated with the genotypes DQ2 and DQ8. DQ2 predominated, but the distribution of the frequencies was different from what has been found in European populations and was closer to what has been found in the Americas. The high frequencies of the HLA genotypes DQ2 and DQ8 that were found in first-degree relatives would make it difficult to use these HLA genotypes for routine diagnosis of celiac disease in this group.
目的：本研究旨在评估巴西东北部累西腓地区乳糜泻患者中 HLA-DQ2 和 DQ8 基因型以及等位基因 A105、A10201、B10201 和 B10302 的出现频率。
方法：对 73 例乳糜泻患者和 126 例转谷氨酰胺酶血清学阴性的一级亲属进行 HLA-DQ2 和 DQ8 基因分型。使用特异性引物和来自意大利的 Eurospital 实验室的 EU-DQ 试剂盒通过测序识别 DQA105、DQA10201、DQB102 和 DQB10302 等位基因，并通过 Dynal 的 All Set SPP 试剂盒（双检查）。
结果：在 73 例病例中，50 例（68.5%）为 DQ2 基因型，13 例（17.8%）为 DQ8 基因型，5 例（6.8%）为 DQ2 和 DQ8 基因型，5 例（6.8%）无任何上述基因型。在 5 例阴性个体中，4 例具有 B102 等位基因，1 例不具有研究中任何一个等位基因。B102 是两组中最常见的等位基因（患者中为 94%，对照组中为 89%）。
结论：在本研究中，乳糜泻与基因型 DQ2 和 DQ8 相关。DQ2 占主导地位，但频率分布与欧洲人群不同，更接近美洲人群。一级亲属中 HLA-DQ2 和 DQ8 基因型的高频率使得在该人群中常规诊断乳糜泻难以使用这些 HLA 基因型。
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