Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Hum Antibodies. 2020;28(2):123-129. doi: 10.3233/HAB-190398.
Celiac disease (CD) is a common autoimmune disease that is manifested by inflammation of the small intestine and varying extra intestinal symptoms, also considered to be associated with human HLA-DQ genes. In this study, 40 patients of CD and 40 healthy control samples were genotyped for HLA-DQB1 and 14 patients of CD and 14 healthy control samples were genotyped for HLA-DQA1genes using the SSP-PCR technique and a commercial kit.The DQA105 allele had the highest frequency among the patient group (42.86%). The frequency of this allele was 28.57% in healthy controls, and there was no statistically significant difference in this case (p= 0.771).The DQB102 allele was the most common in patients (33.75%) followed by the DQB103 allele (31.25%).The difference in frequency of the HLA-DQB102 allele in the patient and control groups was statistically significant (P= 0.0002, OR = 4.72). The remarkable differences in the distribution of HLA-DQ2 in Iranian patients compared to controls and relative risks signified the role of these alleles in the development of CD in Iranian patients and confirmed the likelihood of using HLA-DQ typing in the substantiation of the disease.
乳糜泻（CD）是一种常见的自身免疫性疾病，表现为小肠炎症和不同的肠外症状，也被认为与人类 HLA-DQ 基因有关。在这项研究中，使用 SSP-PCR 技术和商业试剂盒对 40 例 CD 患者和 40 例健康对照样本进行 HLA-DQB1 基因分型，对 14 例 CD 患者和 14 例健康对照样本进行 HLA-DQA1 基因分型。在患者组中，DQA105 等位基因的频率最高（42.86%）。该等位基因在健康对照组中的频率为 28.57%，在这种情况下没有统计学差异（p=0.771）。DQB102 等位基因在患者中最常见（33.75%），其次是 DQB103 等位基因（31.25%）。患者组和对照组 HLA-DQB102 等位基因频率的差异具有统计学意义（P=0.0002，OR=4.72）。与对照组相比，伊朗患者 HLA-DQ2 的分布存在显著差异，相对风险表明这些等位基因在伊朗患者 CD 的发生发展中起作用，并证实 HLA-DQ 分型在该疾病的证实中具有一定的作用。
