Dataset Information

IL-7R ? polymorphisms in 60 Iranian multiple sclerosis patients.

ABSTRACT: BACKGROUND:Multiple sclerosis (MS), a chronic inflammatory demyelinating disorder with neurodegenerative aspects, is more common among young adults, particularly women. METHODS:This molecular study was designed to investigate the IL-7R ? chain gene in Iranian MS patients. We studied 60 MS patients, diagnosed based on 2005 R-McDonald criteria and 60 apparently healthy individuals as the control group. DNA was extracted from whole blood cells using MBST/IRAN Extraction kit and all samples were screened for possible sequence variation in three regions including promoter, exon 2 and exon 4 with single strand conformation polymorphism (SSCP). RESULTS:The alterations were confirmed with direct sequencing by ABI 3730XL. Although no mutation was detected in the studied regions, eight single nucleotide polymorphisms (SNPs) consisting of rs71617734 in promoter; rs35967524, rs11567704, rs1494558, rs11567705 and rs969128 in exon 2 as well as rs1494555 and rs2228141 in exon 4 were observed. The rs1494558 in exon 2 and rs1494555 in exon 4 were missense variations. Our results also showed the substitution of isoleucine with threonine in rs1494558 (P.I66T) with this accession number, FR863587 submitted in EMBL bank. The study of exon4 areas revealed two SNPs and two sequence variations, where [p.V138I] Valine substituted with isoleucine (FR863588), as well as a silent nucleotide substitution [P. H165H] in the absence of amino acid alteration. The analysis of the SNP genotype in the controls and the patients, using ?(2) showed no significant association with multiple sclerosis in this group. CONCLUSION:Our study demonstrated the effects of some SNPs on the IL-7R ? protein in MS. Further studies are required to reveal the effects of these SNPs on the IL-7R ? protein in multiple sclerosis.

SUBMITTER: Raji MA

PROVIDER: S-EPMC3829237 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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IL-7R α polymorphisms in 60 Iranian multiple sclerosis patients.

Raji Mojgan Ahmadzadeh MA Khosravi Alireza A Sanati Mohammad Hossein MH Nabavi Seyed Massood SM Hajihoseini Reza R Ebrahimi Ahmad A Sabour Mohammad Hossein MH

Iranian journal of neurology 20120101 1

<h4>Background</h4>Multiple sclerosis (MS), a chronic inflammatory demyelinating disorder with neurodegenerative aspects, is more common among young adults, particularly women.<h4>Methods</h4>This molecular study was designed to investigate the IL-7R α chain gene in Iranian MS patients. We studied 60 MS patients, diagnosed based on 2005 R-McDonald criteria and 60 apparently healthy individuals as the control group. DNA was extracted from whole blood cells using MBST/IRAN Extraction kit and all s ...[more]

PMID: 24250851

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Project description:OBJECTIVES:Multiple sclerosis (MS) is a common disease of the central nervous system.This disease may be initiated by either vitamin deficiency or triggered by abnormality in CYP24A1 and vitamin D receptor. MATERIALS AND METHODS:In this case-control study, the expression of genes encoding vitamin D receptor (VDR) and CYP24A1 in relapsing-remitting MS (RR-MS) patients was compared with normal individuals in the Iranian population. RNA from whole blood of 50 RR-MS patients (HLA-DRB1*15-negative and responders to interferonbeta with a normal vitamin D level) and 50 normal controls was extracted. The levels of CYP24A1 and VDR expression were measured using real-time quantitative polymerase chain reaction. RESULTS:The RR-MS group had a significantly more than 2 times higher expression level of VDR than the normal group (P=0.04). On the other hand, there was a 0.89 times decrease in the expression level of CYP24A1 in RR-MS patients which was not statistically significant. There was no linear correlation between the risk of expanded disability status scale of Kurtzke (EDSS) and the expression level of either CYP24A1 or VDR. In addition, the expression level of CYP24A1 or VDR was not correlated with the duration of the disease. CONCLUSIONS:Up-regulation of VDR is likely to happen in RR-MS patients in the Iranian population. We did not observe a gene expression-phenotype correlation for CYP24A1 which may be due to limited statistical power as a result of the small sample size. Although the individuals taking part in this study had normal levels of vitamin D, the increase in VDR expression levels may perhaps be a response to a defect in vitamin D processing. Another possibility is that despite an increase in VDR expression level, factors such as micro-RNAs may result in their deactivation while an increase in VDR expression level can be seen as a compensatory response. Of course, further studies are required to identify the mechanism of action of vitamin D by analyzing genes involved in its signaling pathway, particularly VDR and CYP24A1.

Project description:Accumulating evidences from experimental, epidemiologic and clinical studies support the potential linkage between poor vitamin D status and the risk of developing Multiple Sclerosis (MS), as well as, an adverse disease course. However, the results of the trials on the clinical outcomes of vitamin D supplementation in MS patients are less consistent which brought many discrepancies in routine practice. In this article we presented a summary of a symposium on vitamin D and MS. In this symposium we aim to review the current data about the relationship between vitamin D and MS, and suggest management guides for practicing neurologists.Generally, supplementation seems to be reasonable for all MS and clinically isolated syndrome (Rinaldi et al., Toxins 7:129-37, 2015) patients with serum 25(OH)D level below 40 ng/ml. In patients with vitamin D insufficiency or deficiency, a large replacing dose (e.g. 50,000 IU capsules of D per week for 8-12 week) is recommended. Panel also suggested: the checking of the serum vitamin D, and calcium level, as well as, patients' compliance after the initial phase; a maintenance treatment of 1500-2000 IU daily or equivalent intermittent (weekly, biweekly or monthly) Dose, considering the patient's compliance; routine check of serum vitamin D level at least two times a year especially at the beginning of spring and autumn; Serum vitamin D evaluation for first degree relatives of MS patients at high risk age and supplementation in case of insufficiency (25(OH)D less than 40 ng/ml); correction of vitamin D deficiency and insufficiency before pregnancy, as well as, a daily dose of 1500-2000 IU or equivalent biweekly intake in 2nd and 3rd trimesters; stopping supplementation if 25(OH)D serum level exceeds 100 ng/ml. Although the results of high power studies are not available, correcting vitamin D status seems plausible in all MS and CIS patients. Maintaining the serum 25(OH)D level between 40 and 100 ng/ml is not known to exert adverse effect. More ever, it might be associated with lower disease activity.

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IL-7R ? polymorphisms in 60 Iranian multiple sclerosis patients.

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IL-7R α polymorphisms in 60 Iranian multiple sclerosis patients.

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