叙利亚乳糜泻儿童的HLA-DQ2和-DQ8基因型频率：HLA-DQ相对风险评估
HLA-DQ2 and -DQ8 genotype frequency in Syrian celiac disease children: HLA-DQ relative risks evaluation.
作者信息
Murad Hossam, Jazairi Batoul, Khansaa Issam, Olabi Doaa, Khouri Lina
机构信息
Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.
Children's hospital, Damascus, Syria.
出版信息
BMC Gastroenterol. 2018 May 24;18(1):70. doi: 10.1186/s12876-018-0802-2.
BACKGROUND
Celiac disease (CD) is a common autoimmune disease in Syria which manifesting with inflammation of the small intestine and with various extra intestinal symptoms. The disease is associated with human HLA-DQ genes encoding HLA-DQ2 and DQ8 proteins.
METHODS
In this study, 49 children patients of CD and 58 healthy control samples were genotyped for HLA-DQ genes using SSP-PCR technique. Relative risks for different genotypes were also evaluated.
RESULTS
The DQB10201 allele was the most common in the patients (77.6%) followed by DQB10302 allele (10.2%). The highest HLA-DQB risk for CD development was found in patients carriers a DQ2.5/DQ8 genotype (1/10), followed by the patients carriers DQ2.5/DQ2.5 (1/12).
CONCLUSION
The significant differences in the frequency of HLA-DQ2 and HLA-DQ8 in Syrian patients in compared with controls and relative risks predicted demonstrated the importance role of these alleles in the development of CD in Syrian children patients.
背景
乳糜泻（CD）是叙利亚一种常见的自身免疫性疾病，表现为小肠炎症及各种肠外症状。该疾病与编码HLA-DQ2和DQ8蛋白的人类HLA-DQ基因相关。
方法
在本研究中，采用序列特异性引物聚合酶链反应（SSP-PCR）技术对49例CD儿童患者和58例健康对照样本进行HLA-DQ基因分型。还评估了不同基因型的相对风险。
结果
患者中最常见的等位基因是DQB10201（77.6%），其次是DQB10302等位基因（10.2%）。发现携带DQ2.5/DQ8基因型的患者发生CD的HLA-DQB风险最高（1/10），其次是携带DQ2.5/DQ2.5基因型的患者（1/12）。
结论
与对照组相比，叙利亚患者中HLA-DQ2和HLA-DQ8频率的显著差异以及预测的相对风险表明这些等位基因在叙利亚儿童患者CD发生中起重要作用。
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