Al-Hakbany Manan, Awadallah Sitalbanat, Al-Ayadhi Laila
College of Medicine, King Saud University, P.O. Box 2925, Riyadh 11461, Saudi Arabia.
College of Medicine, King Saud University, P.O. Box 2925, Riyadh 11461, Saudi Arabia ; Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Saudi Arabia.
Autism Res Treat. 2014;2014:242048. doi: 10.1155/2014/242048. Epub 2014 Feb 3.
Earlier reports showed the relationship between autism and immune genes located in the human leukocyte antigen (HLA). In this current study, we compared the HLA class I and class II alleles and haplotypes in 35 autistic children with 100 control subjects from Saudi Arabia, using PCR-SSP method and Luminex technology. In class I the HLA-A01 (P = 0.03, OR 2.68), A02 (P = 0.001, OR 3.02) and HLA-B07 (P = 0.01, OR 3.27), were significantly associated with autism. Also, the haplotype A02-B07 was significantly higher in autistic patients than in controls (P = 0.007, OR 5.83). In class II, DRB11104 was significantly higher in patients than in controls (P = 0.001, OR 8.75). The DQB10202 (P = 0.001, OR 0.24), DQB10302 (P = 0.001, OR 0.14), and DQB10501 (P = 0.012, OR 0.25), were negatively associated with disease. While the four-loci genotype study showed that A01-B07-DRB10701-DQB10602 (P = 0.001, OR 41.9) and the A31-B51-DRB10103-DQB10302 (P = 0.012, OR 4.8) are positively associated with autism among Saudi patients. This is the first report on a foreseeable risk of association of HLA-B07 allele with autism. Thus, HLA-B07 allele and the closely linked haplotype A01 B07 DRB10701 DQB1*0602 may serve as a marker for genetic susceptibility to autism in Saudis.
早期报告显示了自闭症与位于人类白细胞抗原（HLA）中的免疫基因之间的关系。在本研究中，我们使用聚合酶链反应-序列特异性引物（PCR-SSP）方法和Luminex技术，比较了35名自闭症儿童与100名来自沙特阿拉伯的对照受试者的HLA I类和II类等位基因及单倍型。在I类中，HLA-A01（P = 0.03，比值比2.68）、A02（P = 0.001，比值比3.02）和HLA-B07（P = 0.01，比值比3.27）与自闭症显著相关。此外，单倍型A02-B07在自闭症患者中显著高于对照组（P = 0.007，比值比5.83）。在II类中，DRB11104在患者中显著高于对照组（P = 0.001，比值比8.75）。DQB10202（P = 0.001，比值比0.24）、DQB10302（P = 0.001，比值比?0.14）和DQB10501（P = 0.012，比值比0.25）与疾病呈负相关。而四位点基因型研究表明，A01-B07-DRB10701-DQB10602（P = 0.001，比值比41.9）和A31-B51-DRB10103-DQB10302（P = 0.012，比值比?4.8）在沙特患者中与自闭症呈正相关。这是关于HLA-B07等位基因与自闭症关联的可预见风险的首次报告。因此，HLA-B07等位基因以及紧密连锁的单倍型A01 B07 DRB10701 DQB1*0602可能作为沙特人自闭症遗传易感性的一个标志物。 （注：原文中“OR 0.14”和“OR 4.8”前的“?”为原文可能存在的错误或不清晰表述，译文保留）
