Dataset Information

Association of AIRE Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population.

ABSTRACT: Background:Multiple Sclerosis (MS) is the most common cause of neurologic disability in young adults. Recently, the AIRE gene was identified as a genetic risk factor for several autoimmune diseases in genome wide association studies. The aim of this study was to further investigate the possible role of the AIRE gene in susceptibility to MS in Iranian population. Methods:A total of 112 MS patients and 94 ethnically matched controls were included in the study. The Single-Nucleotide Polymorphism (SNP) (rs1800520, C>G) with a global MAF=0.2282/1143 was selected and genotyped using HRM real-time PCR method. Results:Results showed that AIRE SNP rs1800520 was significantly less common in the MS patients than in healthy controls (17.8 vs. 28.7%, pc=0.032, OR=0.54,95% CI 0.279, 1.042). Also, the frequency of allele G was significantly higher among the control group than in the case group (37.77 vs. 25%, pc=0.014). Interestingly, mRNA transcribed on the rs1800520 SNP showed decreased free energy than the wild type suggesting that its increased stability may be responsible for the different activities of the polymorphic AIRE molecule. Conclusions:This is the first study investigating the relationship between AIRE gene and the susceptibility to MS. These results indicated that the rs1800520 SNP is not a susceptibility gene variant for the development of MS in Iranian population.

SUBMITTER: Sadeghian-Rizi T

PROVIDER: S-EPMC5960056 | biostudies-literature | 2018 Apr-Jun

REPOSITORIES: biostudies-literature

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Association of <i>AIRE</i> Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population.

Sadeghian-Rizi Tahereh T Alsahebfosoul Fereshteh F Kazemi Mohammad M Khanahmad Hossein H Jahanian-Najafabadi Ali A

Avicenna journal of medical biotechnology 20180401 2

<h4>Background</h4>Multiple Sclerosis (MS) is the most common cause of neurologic disability in young adults. Recently, the <i>AIRE</i> gene was identified as a genetic risk factor for several autoimmune diseases in genome wide association studies. The aim of this study was to further investigate the possible role of the <i>AIRE</i> gene in susceptibility to MS in Iranian population.<h4>Methods</h4>A total of 112 MS patients and 94 ethnically matched controls were included in the study. The Sing ...[more]

PMID: 29849988

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Project description:OBJECTIVE:Multiple sclerosis (MS) is one of the leading neurodegenerative causes of physical disability world-wide. Genetic aberrations of autoimmunity pathway components have been demonstrated to significantly influence MS development. Cluster of Differentiation 58 (CD58) is pertained to a group of genes which had been assayed in several recent association studies. Given the significance of CD58 in modulation of T regulatory cells that control autoimmune responses, the present study was conducted to investigate the frequency of rs12044852 polymorphism and its effect on the outcome of interferon beta (IFN-β) therapy in a subset of Iranian MS patients. MATERIALS AND METHODS:Two hundred MS patients and equal number of healthy controls were recruited to be genotyped in an experimental case-control based study through polymerase chain reaction using specific sequence primers (PCR-SSP). Relapsing remitting multiple sclerosis (RRMS) patients administered IFN-β therapy were followed up with clinical visits every three months up to two years. The mean of multiple sclerosis severity score (MSSS) and expanded disability status scale (EDSS) were measured to monitor the change in severity of MS in response to IFN-β therapy. Pearson's Chi-square and analysis of variance (ANOVA) tests were the main statistical methods used in this study. RESULTS:Strong association was found between the CC genotype and onset of MS (p=0.001, OR=2.22). However, there was no association between rs12044852 and various classifications and severity of MS. Pharmacogenetics-based analysis indicated that carriers of CC genotype had the highest MSSS score compared to others, implying a negative impact of rs12044852 on response to IFN-β therapy. CONCLUSION:Taken together, our findings revealed the critical effect of rs12044852 polymorphism of CD58 on the progression of MS disease. This indicates that genotyping of MS patients may expedite achieving personalized medical management of MS patients.

Dataset Information

Association of AIRE Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population.

Publications

Association of <i>AIRE</i> Polymorphism and the Susceptibility to Multiple Sclerosis in Iranian Population.

Similar Datasets

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