Association Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Population

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dc.authoridSimsek, Hasan/0000-0001-5062-1014
dc.authorwosidList, Ed/AAG-7094-2019
dc.authorwosidSimsek, Hasan/AAZ-5660-2020
dc.contributor.authorSimsek, Hasan
dc.contributor.authorGeckin, Hikmet
dc.contributor.authorSensoz, Nilay Padir
dc.contributor.authorList, Edward O.
dc.contributor.authorArman, Ahmet
dc.date.accessioned2024-08-04T20:45:32Z
dc.date.available2024-08-04T20:45:32Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractMultiple sclerosis (MS) is a chronic progressive neurodegenerative disease that affects myelin fibers within the central nervous system resulting in neurological impairment. Although the etiology of MS is not fully understood, environmental and genetic factors are thought to play important roles. IL7R gene polymorphisms which are associated with several autoimmune diseases have also been implicated as a genetic factor for MS following genome-wide association studies. To further examine this association, we investigated the association between MS and IL7R gene -449 (A/G), -504 (T/C), and -1085 (G/T) promoter polymorphisms in Turkish population. Three hundred sixty-four MS patients and 191 healthy controls were involved in this study. Three polymorphic regions in the promoter of IL7R were identified and these regions were amplified by appropriate primers. The PCR products were digested by PstI enzyme for -504 (T/C) SNP and HphI enzyme for -1085 (G/T) and -449 (A/G) SNPs and genotyping was done based on digested PCR product sizes. Genotype distributions and allele frequencies of -449 polymorphism did not show any significant association with MS directly (p=0.120 and p=0.490, respectively). But the genotypes of IL7R -449 GA for AOMS and AA for EOMS were a risk factor in according to age of onset (p=0.002, OR=4.021, 95% CI=1.642-9.845). Furthermore, IL7R -449 A allele was found to be a risk factor for EOMS (p=0.011, OR=1.3, 95% CI=1.107-1.527). Significant association was seen between IL7R -504 TC heterozygote genotype and MS (p=0.02, OR=1.702, 95% CI=1.169-2.478). The IL7R -1085 (G/T) polymorphism did not show association with MS; however, the haplotype of ACG may be susceptibility to MS and RRMS (p=0.035, OR=1.349, 95% CI=1.020-1.785, and p=0.041, OR=1.368, 95% CI=1.012-1.850, respectively) and the haplotypes of ACG, ATT, and GTG demonstrate a protective effect in EOMS (p=0.008, OR=0.326, 95% CI=0.136-0.782, p=0.012 and p=0.012, OR=0.462, 95% CI=0.249-0.859, respectively). RRMS frequency in the Turkish population was decreased and SPMS frequency was strongly increased based on comparison to results from other populations. Furthermore, male patients had an increased frequency of SPMS significantly (p=0.033, OR=1.667, 95% CI=1.036-2.682). In conclusion, this is the first study to show a significant association between the IL7R promoter polymorphisms and the age of onset of MS.en_US
dc.description.sponsorshipMarmara University, Scientific Research Projects Committeeen_US
dc.description.sponsorshipThis study was supported by Marmara University, Scientific Research Projects Committee.en_US
dc.identifier.doi10.1007/s12031-018-1205-0
dc.identifier.endpage47en_US
dc.identifier.issn0895-8696
dc.identifier.issn1559-1166
dc.identifier.issue1en_US
dc.identifier.pmid30443838en_US
dc.identifier.scopus2-s2.0-85056777350en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage38en_US
dc.identifier.urihttps://doi.org/10.1007/s12031-018-1205-0
dc.identifier.urihttps://hdl.handle.net/11616/98538
dc.identifier.volume67en_US
dc.identifier.wosWOS:000456594300004en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherHumana Press Incen_US
dc.relation.ispartofJournal of Molecular Neuroscienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIL7Ren_US
dc.subjectPolymorphismen_US
dc.subjectMultiple sclerosisen_US
dc.subjectInflammationen_US
dc.titleAssociation Between IL7R Promoter Polymorphisms and Multiple Sclerosis in Turkish Populationen_US
dc.typeArticleen_US

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