PMID- 25422737 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20141125 LR - 20200930 IS - 2008-384X (Print) IS - 2252-0058 (Electronic) IS - 2008-384X (Linking) VI - 13 IP - 3 DP - 2014 Jul 4 TI - Association of interleukin 7 receptor gene polymorphism rs6897932 with multiple sclerosis patients in Khuzestan. PG - 168-71 AB - BACKGROUND: Multiple sclerosis (MS) is a chronic inflammatory demyelinating and neurodegenerative disease of central nervous system with unknown causes. Etiology of MS involves both genetic and environment factors. The interleukin 7 receptor (IL7R) gene is a promising candidate for MS, because its involvement in the autoimmunity, regulation of the T-cell homeostasis, proliferation, and anti-apoptotic signaling. METHODS: We investigated the association of the IL7R gene polymorphism rs6897932 in MS patients in a case and control study. In this case and control study participating, 127 relapsing-remitting MS (RRMS) patients (mean age: 32.25, age range: 16-57) selected according McDonald criteria, and 109 ethnically, sex and age matched healthy control (mean age: 27.44, age range: 14-63) with no personal or family history of autoimmune diseases were studied. DNA was extracted from whole blood using high pure polymerase chain reaction template preparation kit from Roch Company. Amplification refractory mutation system method was applied to define the genotyping C/T within exon 6 of the IL7R gene among individuals. RESULTS: Evaluation of the IL7R gene polymorphism revealed that the T allele and the C/T and T/T genotypes are present in 53.5%, 42.5%, 4.0%, and 68.8%, 26.6%, 4.6% in MS patients and controls, respectively. Comparison between alleles and genotypes in the MS patients and healthy controls show significant differences (P = 0.038). CONCLUSION: The distribution of the rs6897932 polymorphism is significantly different in our case/control study in Khuzestan Province. This single nucleotide polymorphism causes alternative splicing in exon 6 of the IL7R gene with possible influence of the autoimmunity. FAU - Majdinasab, Nastaran AU - Majdinasab N AD - Musculoskeletal Rehabilitation Research Center AND Department of Neurology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. FAU - Hosseini Behbahani, Mahshid AU - Hosseini Behbahani M AD - Department of Biochemistry, Payame Noor University, Tehran, Iran. FAU - Galehdari, Hamid AU - Galehdari H AD - Departmanet of Genetic, School of Sciences, Shahid Chamran University, Ahvaz, Iran. FAU - Mohaghegh, Maryam AU - Mohaghegh M AD - Departmanet of Genetic, School of Sciences, Shahid Chamran University, Ahvaz, Iran. LA - eng PT - Journal Article PL - Iran TA - Iran J Neurol JT - Iranian journal of neurology JID - 101589458 PMC - PMC4240935 OTO - NOTNLM OT - Amplified Refractory Mutation System OT - Interleukin 7 Receptor OT - Multiple Sclerosis OT - Polymorphism OT - Relapsing-Remitting Multiple Sclerosis EDAT- 2014/11/26 06:00 MHDA- 2014/11/26 06:01 PMCR- 2014/07/04 CRDT- 2014/11/26 06:00 PHST- 2014/05/17 00:00 [received] PHST- 2014/04/19 00:00 [accepted] PHST- 2014/11/26 06:00 [entrez] PHST- 2014/11/26 06:00 [pubmed] PHST- 2014/11/26 06:01 [medline] PHST- 2014/07/04 00:00 [pmc-release] AID - IJNL-13-168 [pii] PST - ppublish SO - Iran J Neurol. 2014 Jul 4;13(3):168-71.