Heidari Abolfazl, Noori Daloii Mohammad Reza, Keramatipour Mohammad, Rashikinezhad Ali, Sahmani Ahmad Ali, Amirzargar Ali Akbar
Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences and Health Services, Tehran, Iran.
Iran J Allergy Asthma Immunol. 2010 Dec;9(4):219-23.
Multiple sclerosis (MS) is a disease of the central nervous system (CNS) characterized by multiple regions of demyelination and inflammation along axons with a T cell-mediated autoimmune etiology. While the cytotoxic T lymphocyte antigen 4 (CTLA-4) gene seems to be a strong candidate gene in autoimmune diseases, we investigated its association with a group of patients with MS. One hundred and thirty five patients with relapsing-remitting form of MS and 135 healthy subjects were enrolled in this study. Three single nucleotide polymorphisms (SNPs) (-318C/T, +49A/G, +6230A/G) of the CTLA-4 gene were assessed using PCR-RFLP method. The genotypes -318 CC (82.9% in patients vs. 76.2% in controls) and +49 AA (31.1% in patients vs. 28.1% in controls) were overrepresented in the patient group; however, these differences were not statistically significant. In spite of some previous reports, this study did not confirm any significant association with alleles and genotypes of SNPs of the CTLA4 in Iranian MS patients. Such disparity could be due to genetic background, ethnicity and different forms of the disease.
多发性硬化症（MS）是一种中枢神经系统（CNS）疾病，其特征是沿轴突存在多个脱髓鞘和炎症区域，病因是T细胞介导的自身免疫。虽然细胞毒性T淋巴细胞抗原4（CTLA-4）基因似乎是自身免疫性疾病中的一个强有力的候选基因，但我们研究了它与一组MS患者的关联。本研究纳入了135例复发缓解型MS患者和135名健康受试者。使用PCR-RFLP方法评估CTLA-4基因的三个单核苷酸多态性（SNP）（-318C/T、+49A/G、+6230A/G）。-318 CC基因型（患者中为82.9%，对照组中为76.2%）和+49 AA基因型（患者中为31.1%，对照组中为28.1%）在患者组中比例较高；然而，这些差异无统计学意义。尽管有一些先前的报道，但本研究未证实伊朗MS患者中CTLA4的SNP等位基因和基因型存在任何显著关联。这种差异可能归因于遗传背景、种族和疾病的不同形式。
