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Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of relapsing-remitting multiple sclerosis

Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of... BACKGROUND: Although Multiple Sclerosis (MS) is an autoimmunemultifactorial disease with unknown etiology, various genetic andenvironmental factors are known to contribute to the pathogenesis of thedisease. OBJECTIVE: Recent studies have confirmed thatthe suppressive function of regulatory T cells (T (reg)) is impaired in MSpatients and that the FOXP3 gene is a crucial transcription factor in theregulation of CD4+CD25+FOXP3+ Treg cells. Polymorphisms inthe promoter region of the FOXP3 gene may alter the gene expression level and,therefore, contribute to the disease susceptibility. METHODS: Thepresent study aimed to investigate the possible association between singlenucleotide polymorphisms (SNPs) rs3761548 and rs2232365 in the FOXP3 gene andpredisposition to MS. We conducted a case-control study on 410 patients withsporadic MS and 446 healthy controls. Genotyping was performed usingpolymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). RESULTS: Significant differences in distribution ofboth rs3761548 and rs2232365 A allele were found in MS patients incomparison to controls. Haplotype frequencies were also different among thestudied groups. The A-A and C-G haplotype blocks showed a significantdifference between case and controls. CONCLUSION: we have providedfurther evidence for the association between genetic variations andhaplotypes in FOXP3 and MS in Iranian population. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Antibodies IOS Press

Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of relapsing-remitting multiple sclerosis

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Publisher
IOS Press
Copyright
Copyright © 2016 IOS Press and the authors. All rights reserved
ISSN
1093-2607
eISSN
1875-869X
DOI
10.3233/HAB-160299
pmid
27792007
Publisher site
See Article on Publisher Site

Abstract

BACKGROUND: Although Multiple Sclerosis (MS) is an autoimmunemultifactorial disease with unknown etiology, various genetic andenvironmental factors are known to contribute to the pathogenesis of thedisease. OBJECTIVE: Recent studies have confirmed thatthe suppressive function of regulatory T cells (T (reg)) is impaired in MSpatients and that the FOXP3 gene is a crucial transcription factor in theregulation of CD4+CD25+FOXP3+ Treg cells. Polymorphisms inthe promoter region of the FOXP3 gene may alter the gene expression level and,therefore, contribute to the disease susceptibility. METHODS: Thepresent study aimed to investigate the possible association between singlenucleotide polymorphisms (SNPs) rs3761548 and rs2232365 in the FOXP3 gene andpredisposition to MS. We conducted a case-control study on 410 patients withsporadic MS and 446 healthy controls. Genotyping was performed usingpolymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). RESULTS: Significant differences in distribution ofboth rs3761548 and rs2232365 A allele were found in MS patients incomparison to controls. Haplotype frequencies were also different among thestudied groups. The A-A and C-G haplotype blocks showed a significantdifference between case and controls. CONCLUSION: we have providedfurther evidence for the association between genetic variations andhaplotypes in FOXP3 and MS in Iranian population.

Journal

Human AntibodiesIOS Press

Published: Jan 1, 2017

References