title: The promoter SNP, but not the alternative splicing SNP, is linked to multiple sclerosis among Jordanian patients.
abstract: Multiple sclerosis is a chronic inflammatory autoimmune disease of the human central nervous system. A number of studies with compelling evidence have provided correlation between single nucleotide polymorphisms in interleukin-7 receptor alpha and multiple sclerosis (MS) in several populations. One such variation, rs6897932, is located within the coding region and results in the generation of a soluble receptor, whereas another one, rs11567685, is located in the promoter region and affects gene expression. In this study, we investigated the frequencies of these two SNPs and their association to MS in 200 healthy controls and 200 MS patients based on a simple PCR-RFLP strategy not reported previously. The frequencies of the high risk alleles for both SNPs were in a high range among healthy and MS subjects relative to previous studies. In addition, whereas no association was found between the alternative splicing SNP, rs6897932, and MS, a significant link was found between the promoter SNP, rs11567685, and MS. These results are in contrast to other studies and may have important implications as to the molecular contribution of IL-7Rα in multiple sclerosis.
authors.affiliation: Department of Pathology, Microbiology, and Forensic Medicine, The University of Jordan, Amman, Jordan.
authors.forename: Leena
authors.initials: L
authors.lastname: Ibayyan
authors.forename: Rand
authors.initials: R
authors.lastname: Zaza
authors.forename: Said
authors.initials: S
authors.lastname: Dahbour
authors.forename: Ammar
authors.initials: A
authors.lastname: El-Omar
authors.forename: Bilal
authors.initials: B
authors.lastname: Samhouri
authors.forename: Mohammad
authors.initials: M
authors.lastname: El-Khateeb
authors.forename: Mamoun
authors.initials: M
authors.lastname: Ahram
mesh_terms: D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing; D005260:Female; D005838:Genotype; D059811:HLA-DRB1 Chains / Q000235:genetics; D006801:Humans; D007597:Jordan; D008297:Male; D008875:Middle Aged; D020528:Multiple Sclerosis, Chronic Progressive / Q000235:genetics*; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D020395:Receptors, Interleukin-7 / Q000235:genetics*; D055815:Young Adult
chemical_list: D059811:HLA-DRB1 Chains; C489631:HLA-DRB1*15:01 antigen; D020395:Receptors, Interleukin-7; C415350:interleukin-7 receptor, alpha chain