title: No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India.
abstract: Multiple sclerosis (MS) is an inflammatory neurodegenerative disease of the nervous system with a profound genetic element. It is already known that alterations in Eukaryotic Translation Initiation Factor 2B (EIF2B) gene encoding the five subunits of eIF2B complex cause Vanishing White Matter (VWM) disease of the brain and emerging evidences have advocated certain resemblances between MS and VWM in terms of clinical and epidemiological characteristics, thus validating the association study between EIF2B and MS. Moreover, a recent study has implicated EIF2B5 Ile587Val (rs843358) polymorphism as a susceptibility factor for MS. In order to investigate the association of EIF2B5 Ile587Val polymorphism with MS susceptibility in Kashmir region in India, we screened EIF2B5 Exon 13 in 30 MS patients and 65 controls (a total of 95 participants). During the present course of study, we could not find statistically significant difference in the frequency of Ile587Val between MS patients and controls, thus indicating that such alteration does not appear to influence MS development in Kashmiri population. Our results provide evidence against a major role for Ile587Val polymorphism in MS susceptibility.
authors.affiliation: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India. Electronic address: inshazahoor11@gmail.com.
authors.forename: Insha
authors.initials: I
authors.lastname: Zahoor
authors.affiliation: Department of Neurology, Sher-I-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, 190006, J&K, India. Electronic address: ravoufasimi@yahoo.co.in.
authors.forename: Ravouf
authors.initials: R
authors.lastname: Asimi
authors.affiliation: Department of Biotechnology, University of Kashmir, Srinagar, 190006, J&K, India. Electronic address: haq@kashmiruniversity.ac.in.
authors.forename: Ehtishamul
authors.initials: E
authors.lastname: Haq
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D020717:Eukaryotic Initiation Factor-2B
keywords: Environmental risk factors.; Kashmiri population.; Multiple sclerosis.; Polymorphism.; Vanishing white matter disease.