Almeida Lucas Malta, Gandolfi Lenora, Pratesi Riccardo, Uenishi Rosa Harumi, de Almeida Fernanda Coutinho, Selleski Nicole, Nóbrega Yanna Karla de Medeiros
Graduate Program in Medical Sciences, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil.
Graduate Program in Medical Sciences, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Graduate Program in Health Sciences, University of Brasília School of Health Sciences, 70.900.910 Brasília, DF, Brazil.
Autoimmune Dis. 2016;2016:5409653. doi: 10.1155/2016/5409653. Epub 2016 Nov 30.
Celiac disease (CD) is a genetically determined immune-mediated disorder in which gluten immunogenic peptides are presented to CD4 T cells by HLA-DQ2.5, DQ8, DQ2.2, and their combinations. Our aim is to establish a risk gradient for celiac disease based on HLA-DQ profile in a brazilian representative population and the relevance of DQ2.2 in celiac disease development. 237 celiac patients and 237 controls (both groups with 164 females and 73 males) were included. All samples were tested for the presence of predisposing HLA-DQ alleles using the PCR-SSP method. Results were considered significant when < 0.05. Disease risk was expressed as 1 : for each HLA-DQ category described at this study. DQ2.5 and/or DQ8 were detected in 224 celiac patients (94.5%) and 84 controls (35.4%). Eight celiac patients (3.4%) and 38 controls (16%) disclosed only DQ2.2. Even though DQ2.2 (2/2 or 2/x) showed a low CD risk of 1 : 251 and 1 : 550, respectively, the genotype DQ2.5/DQ2.2 (2/2) showed high CD risk of 1 : 10 ( < 0.0001). The disease risk gradient ranged from 1 : 3014 to 1 : 7. Our study allowed the determination of a risk gradient for celiac disease development in at-risk population, showing that DQ2.2 variant was relevant when associated with DQ2.5.
乳糜泻（CD）是一种由基因决定的免疫介导性疾病，其中麸质免疫原性肽通过HLA-DQ2.5、DQ8、DQ2.2及其组合呈递给CD4 T细胞。我们的目的是基于巴西代表性人群的HLA-DQ谱建立乳糜泻的风险梯度，并确定DQ2.2在乳糜泻发展中的相关性。研究纳入了237例乳糜泻患者和237例对照（两组均有164名女性和73名男性）。使用PCR-SSP方法对所有样本进行了易感性HLA-DQ等位基因检测。当P<0.05时，结果被认为具有统计学意义。疾病风险以本研究中描述的每种HLA-DQ类别1:X表示。224例乳糜泻患者（94.5%）和84例对照（35.4%）检测到DQ2.5和/或DQ8。8例乳糜泻患者（3.4%）和38例对照（16%）仅检测到DQ2.2。尽管DQ2.2（2/2或2/x）显示乳糜泻风险较低，分别为1:251和1:550，但基因型DQ2.5/DQ2.2（2/2）显示乳糜泻风险较高，为1:10（P<0.0001）。疾病风险梯度范围为1:3014至1:7。我们的研究确定了高危人群中乳糜泻发展的风险梯度，表明DQ2.2变体与DQ2.5相关时具有相关性。
