伊朗东部白细胞介素-7受体α基因四个多态性与多发性硬化症的关联研究。
Association study of four polymorphisms in the interleukin-7 receptor alpha gene with multiple sclerosis in Eastern Iran.
作者信息
Haj Mehrdad Sadeghi, Nikravesh Abbas, Kakhki Majid Pahlevan, Rakhshi Nahid
机构信息
Health Research Institute, Infectious and Tropical Disease Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran ; Virology Department, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Department of Medical Biotechnology & Molecular Sciences, Faculty of Medicine, North Khorasan University of Medical Sciences, Bojnurd, Iran ; Esfarayen Faculty of Medical Sciences, Esfarayen, Iran.
出版信息
Iran J Basic Med Sci. 2015 Jun;18(6):593-8.
OBJECTIVES
Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS) with unknown etiology. Various genetics and environmental factors contribute to the pathogenesis of the disease. The interleukin-7 receptor alpha chain (IL-7Ra) was identified as the first non-major histocompatibility complex (non-MHC) MS susceptibility locus. In this study we are trying to find the association of IL-7Ra gene polymorphisms with MS susceptibility in Eastern Iran.
MATERIALS AND METHODS
A case-control study was performed in two provinces Sistan & Baluchistan and Khorasan with 219 patients and 258 unrelated matched healthy controls, using PCR-RFLP method for four single nucleotide polymorphisms (SNPs) rs7718919, rs11567685, rs11567686 and rs6897932 of IL-7Ra gene.
RESULTS
We found a tendency toward association with genotyping analyses in SNP rs7718919 (P=0.048, OR=4.344, and 95% CI=0.892-21.146); also genotype and allele frequency in gender and MS subtype stratification were shown to have significant association with MS. Analysis of two provinces separately showed a significant difference in results of the allele and genotype frequencies. Moreover, haplotyping analysis showed that (GTGC) has an association only in the male secondary-progressive multiple sclerosis (SPMS) patients in comparison to the healthy controls (P=0.043, OR=0.413, and 95% CI=0.179-0.955).
CONCLUSION
IL7-Ra could be a susceptible gene to MS within the Eastern Iran population especially after MS and gender stratification.
目的
多发性硬化症（MS）是一种中枢神经系统（CNS）的自身免疫性脱髓鞘疾病，病因不明。多种遗传和环境因素参与了该疾病的发病机制。白细胞介素-7受体α链（IL-7Ra）被确定为首个非主要组织相容性复合体（非MHC）的MS易感基因座。在本研究中，我们试图寻找伊朗东部地区IL-7Ra基因多态性与MS易感性之间的关联。
材料与方法
在锡斯坦-俾路支斯坦省和呼罗珊省进行了一项病例对照研究，纳入219例患者和258名无血缘关系的匹配健康对照，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测IL-7Ra基因的4个单核苷酸多态性（SNP），即rs7718919、rs11567685、rs11567686和rs6897932。
结果
我们发现SNP rs7718919的基因分型分析显示出关联趋势（P = 0.048，OR = 4.344，95% CI = 0.892 - 21.146）；此外，性别和MS亚型分层中的基因型和等位基因频率与MS存在显著关联。分别对两个省份进行分析显示，等位基因和基因型频率结果存在显著差异。此外，单倍型分析表明，与健康对照相比，（GTGC）仅在男性继发进展型多发性硬化症（SPMS）患者中存在关联（P = 0.043，OR = 0.413，95% CI = 0.179 - 0.955）。
结论
在伊朗东部人群中，IL7-Ra可能是MS的易感基因，尤其是在进行MS和性别分层之后。
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