Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Int J Immunogenet. 2012 Oct;39(5):414-22. doi: 10.1111/j.1744-313X.2012.01104.x. Epub 2012 Mar 9.
Multiple sclerosis (MS) is a common autoimmune disorder of the central nervous system. Recent studies have shown that the HLA-DRB1 and DQB1 alleles are associated with MS susceptibility and severity. However, this is controversial in different population studies. In the present study, the roles of HLA-DRB1 and DQB1 alleles and the amino acids were investigated on disease risk and severity in 120 Iranian patients with MS and 120 controls. Our findings indicate that the DRB11501 allele (OR = 3.203 P = 0.001), the DRB11501-DQB10602 haplotype (OR = 7.792 P = 0.003) and the DRB11501/0701- genotype (OR = 3.320 P = 0.006) and amino acid Leu26 (OR = 1.645 P = 0.005) and Phe9 (OR = 1.893 P = 0.009) on the DQβ1 chain are significantly associated with MS susceptibility. DRB11001 was the only allele that had a protective effect against MS (P = 0.0004). We also found that the DQB10303 allele was significantly associated with disease severity (mean Multiple Sclerosis Severity Score difference = 1.979, P = 0.002). However, protective effect of the DRB11001 against MS and also association of DQB10303 allele with MS severity need to be confirmed by larger sample size.
多发性硬化症（MS）是一种常见的中枢神经系统自身免疫性疾病。最近的研究表明，HLA-DRB1 和 DQB1 等位基因与 MS 的易感性和严重程度有关。然而，在不同的人群研究中，这一观点存在争议。在本研究中，我们研究了 120 例伊朗 MS 患者和 120 名对照者中 HLA-DRB1 和 DQB1 等位基因和氨基酸与疾病风险和严重程度的关系。我们的研究结果表明，DRB11501 等位基因（OR=3.203，P=0.001）、DRB11501-DQB10602 单倍型（OR=7.792，P=0.003）和 DRB11501/0701- 基因型（OR=3.320，P=0.006）以及 DQβ1 链上的亮氨酸 26（OR=1.645，P=0.005）和苯丙氨酸 9（OR=1.893，P=0.009）与 MS 的易感性显著相关。DRB11001 是唯一对 MS 具有保护作用的等位基因（P=0.0004）。我们还发现 DQB10303 等位基因与疾病严重程度显著相关（平均多发性硬化症严重程度评分差异=1.979，P=0.002）。然而，DRB11001 对 MS 的保护作用以及 DQB10303 等位基因与 MS 严重程度的关联需要更大的样本量来证实。
