Bastos Marília D, Kowalski Thayne W, Puñales Márcia, Tschiedel Balduíno, Mariath Luiza M, Pires Ana Luiza G, Faccini Lavínia S, Silveira Themis R
Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brasil. Universidade de Santa Cruz do Sul (Unisc), Santa Cruz do Sul, RS, Brasil.
Departamento de Genética, UFRGS, Porto Alegre, RS, Brasil.
Arch Endocrinol Metab. 2017 Dec;61(6):550-555. doi: 10.1590/2359-3997000000282. Epub 2017 Jul 13.
OBJECTIVE: To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil. MATERIALS AND METHODS: In a prospective design, we performed the search for DQA10501 and DQB10201 alleles for DQ2.5 and DQB1*0302 for DQ8 through Real-Time Polymerase Chain Reaction (RT-PCR) technique, using TaqMan Genotyping Assays (Applied Biosystems, USA). The diagnosis of CD was established by duodenal biopsy and genotypic determination performed by StepOne Software v2.3. Allelic and genotypic frequencies were compared between groups using Chi-square and Fisher's exact tests and the multiple comparisons using Finner's adjustment. RESULTS: Three hundred and sixty two patients with a median age of 14 years were divided into 3 groups: T1DM without CD (264); T1DM with CD (32) and CD without T1DM (66). In 97% of individuals with T1DM and CD and 76% of individuals with CD without T1DM, respectively, the alleles DQ2.5 and/or DQ8 were identified (p < 0.001). DQ2.5 was more common in individuals with CD (p = 0.004) and DQ8 was more common in individuals with type 1 diabetes (p = 0.008). CONCLUSIONS: The evaluation of the alleles for DQ2.5 and DQ8 by Tag-SNP technique showed a high negative predictive value among those with T1DM, similar to that described by the conventional technique. The high frequency of DQ8 alleles in individuals with T1DM did not allow differentiating those at higher risk of developing T1DM.
目的：运用标签单核苷酸多态性（Tag-SNP）技术评估巴西南部1型糖尿病（T1DM）和乳糜泻（CD）患者中DQ2.5和DQ8等位基因的频率。 材料与方法：在一项前瞻性研究设计中，我们通过实时聚合酶链反应（RT-PCR）技术，使用TaqMan基因分型检测法（美国应用生物系统公司），寻找DQ2.5的DQA10501和DQB10201等位基因以及DQ8的DQB1*0302等位基因。通过十二指肠活检确诊CD，并使用StepOne Software v2.3进行基因分型测定。采用卡方检验和Fisher精确检验比较组间等位基因和基因型频率，并使用Finner校正进行多重比较。 结果：362例中位年龄为14岁的患者被分为3组：无CD的T1DM患者（264例）；合并CD的T1DM患者（32例）；无T1DM的CD患者（66例）。分别在97%的合并CD的T1DM患者和76%的无T1DM的CD患者中鉴定出DQ2.5和/或DQ8等位基因（p < 0.001）。DQ2.5在CD患者中更常见（p = 0.004），而DQ8在1型糖尿病患者中更常见（p = 0.008）。 结论：通过Tag-SNP技术评估DQ2.5和DQ8等位基因在T1DM患者中显示出较高的阴性预测价值，与传统技术所描述的相似。1型糖尿病患者中DQ8等位基因的高频率使得无法区分出发生T1DM风险较高的患者。
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