伊朗人群中[具体基因]和[具体基因]多态性与多发性硬化症严重程度及复发率的关联
Association of and Polymorphisms with the Severity and Relapses Rate of Multiple Sclerosis in an Iranian Population.
作者信息
Asouri Mohsen, Alinejad Rokni Hamid, Sahraian Mohammad Ali, Fattahi Sadegh, Motamed Nima, Doosti Rozita, Amirbozorgi Galia, Karimpoor Morteza, Mahboudi Fereidoun, Akhavan-Niaki Haleh
机构信息
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
North Research Center, Pasteur Institute of Iran, Amol, Iran.
出版信息
Rep Biochem Mol Biol. 2020 Jul;9(2):129-139. doi: 10.29252/rbmb.9.2.129.
BACKGROUND
Multiple sclerosis (MS) is a multifactorial condition in which many genetic and environmental factors interfere. The association between genes involved in the immune system and MS was previously reported. The aims of this study were to evaluate 14 SNPs of , 14 SNPs of with severity of MS through Expanded Disability Status Scale (EDSS) and Annualized Relapse Rate (ARR).
METHODS
102 patients with MS referred to Sina hospital in Tehran, Iran, were diagnosed and studied based on McDonald's guideline, clinical signs, and brain imaging procedures. All patients were included in the study following informed consent. Genotyping study of 14 variants in the , and 14 variants in was conducted by Sanger sequencing. Disease outcomes including EDSS and ARR were registered. Outcome measures between different genotypes of each SNPs were compared separately.
RESULTS
Among 14 SNPs in IL 2RA the genotypes of rs12722489 showed a significant association with ARR in two consecutive years. Mean ARR1 was 1.06±1.12, 0.20±0.34 and 0.31±.50 for AA, GA, and GG genotypes, respectively ( value= 0.008). Mean ARR2 was 1.5±1.08, 0.28±0.40, and 0.42±0.55 for AA, GA, and GG, respectively ( value= 0.001). Regression analysis showed a significant association between rs12722489 with ARR1 and ARR2, removing the potential confounding mediators. No significant association was found between SNPs in HLA-DRA with the attack rate and severity of MS.
CONCLUSION
The rs12722489 of IL-2RA has an association with ARR, but not with EDSS.
背景
多发性硬化症（MS）是一种多因素疾病，涉及许多遗传和环境因素的相互作用。先前已有报道免疫系统相关基因与MS之间的关联。本研究的目的是通过扩展残疾状态量表（EDSS）和年复发率（ARR）来评估白细胞介素2受体α（IL-2RA）基因的14个单核苷酸多态性（SNP）以及人主要组织相容性复合体II类抗原DRα（HLA-DRA）基因的14个SNP与MS严重程度的关系。
方法
102例转诊至伊朗德黑兰西娜医院的MS患者，根据麦克唐纳标准、临床症状和脑部影像学检查进行诊断和研究。所有患者在签署知情同意书后纳入研究。采用桑格测序法对IL-2RA基因的14个变异位点和HLA-DRA基因的14个变异位点进行基因分型研究。记录包括EDSS和ARR在内的疾病转归情况。分别比较每个SNP不同基因型之间的转归指标。
结果
在IL-2RA基因的14个SNP中，rs12722489的基因型与连续两年的ARR显著相关。AA、GA和GG基因型的平均ARR1分别为1.06±1.12、0.20±0.34和0.31±0.50（P值=0.008）。AA、GA和GG基因型的平均ARR2分别为1.5±1.08、0.28±0.40和0.42±0.55（P值=0.001）。回归分析显示，去除潜在的混杂中介因素后，rs12722489与ARR1和ARR2之间存在显著关联。未发现HLA-DRA基因的SNP与MS的发作率和严重程度之间存在显著关联。
结论
IL-2RA基因的rs12722489与ARR相关，但与EDSS无关。
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