Event Abstract

Association of SNP rs6897932 on CD127 gene in Relapsing Remitting Multiple Sclerosis (RRMS) patients compared to control group

  • 1 Isfahan university of medical sceinces, Immunology Department, Iran
  • 2 Isfahan University Of Medical Sciences, Molecular Biology, Iran
  • 3 Tarbiat Modares University, Immunology, Iran
  • 4 Isfahan University Of Medical Science, Brain and Nurology, Iran
  • 5 Isfahan University Of Medical Science, Molecular Biology, Iran
  • 6 Isfahan University Of Medical Sciences, Physiology Research Center, Iran

The prevalence of MS 20-60/100000 in Iran and 77/100000 in Isfahan. Isfahan is considered as an area with high risk of MS. The patients affected MS interface with physical, with psychological, family, occupation, societal, and family problems. This disease has extended a negative impact on the health system due to high drug expenses and long term hospital bed accupotion.MS is one of the so-called complex genetic diseases, which are common disorders that are characterized by modest disease risk heritability and multifaceted gene–environment interactions. Up 2010, some new susceptibility genes have been identified and replicated using this approach. Estimations revealed that the HLA region accounts for 20-60% of genetic susceptibility in MS. IL7Rα; gene is other genetic susceptibility loci in MS.
ABSTRACT: Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology and is known as autoimmune disease. MS is the most common neurologic disability disease among young adults. Women are affected approximately twice as often as men. It is characterized clinically with recurrent attacks; the clinical presentation of individuals with MS is extremely variable. Recent genome-wide association studies have identified a number of single nucleotide polymorphisms (SNPs) associated with susceptibility to MS. Since the genetic model of the disease would be varied in different ethnic and geographic areas, we decided to study the polymorphism of the CD127 gene in Relapsing Remitting Multiple Sclerosis(RRMS) patients in order to identify disease susceptibility gene variants
Materials & Methods: After written consent, blood samples from 200 patients with RRMS (180 females and 20 male; mean age=31.65±8.3) with clinically and MRI definited RRMS according to the classification of Mcdonald et al (2005) who had recuited to MS research center in Alzahra Hospital (Isfahan, IRAN), and 203 age and sex matched healthy subjects of blood donors (163 females and 40 male; mean age=31.74±7.75) with no history of neurological disorders were included in the study.DNA was extracted from whole blood using a commercially available kit (Qiagene) and stored at -20°C until used for genotyping. SNP analysis was performed using HRM Real Time PCR (Corbett). Differences in genotype frequencies among the respective groups were evaluated by chi square calculation.
Result: Decreased heterozygosis rate of the genomic C allele was detected in patients with RRMS (p= 0.56) while the CC genotypes were decreased in control (OR: 0.88, confidence interval 0.57–1.36).
Once the effect of the associated CD127 protective allele is accounted for, as estimated by rs6897932c, there is no residual evidence of association to MS susceptibility within the CD127 locus in our country. This result suggests that rs6897932c is not correlated to MS susceptibility.
Conclusion: The results for the frequency of rs6897932 SNP in CD127 locus was identified no differential allelic expression among patients with RRMS and healthy controls

Acknowledgements

Physiology Research Center , Isfahan University Of Medical Sciences

References

1- Etemadifar M, Janghorbani M, Shaygannejad V, Ashtari F. Prevalence of multiple sclerosis in Isfahan, Iran. Neuroepidemiology. 2006; 27 39 – 44.
2-Saadatnia M, Etemadifar M, Maghzi AH. Multiple sclerosis in Isfahan, Iran. Int Rev Neurobiol. 2007; 79: 357 – 375.
3-Etemadifar M, Maghzi AH. Sharp increase in the incidence and prevalence of multiple sclerosis in Isfahan, Iran. Mult Scler. 2011; 17: 1022– 1027.
4- Etemadifar M, Abtahi SH. Multiple sclerosis in Isfahan, Iran: past, Present and future. Int J Prev Med. 2012; 3: 301 - 302.
5- Pandit, L.Ban, M.Sawcer, SSinghal, B.Nair, S.Radhakrishnan, K.Shetty, R.Misri, Z.Hegde,S.Bhat, I. G. Evaluation of the established non-MHC multiple sclerosis loci in an Indian population.2011; 17(2); 139-43
6- Johnson, B. A.Wang, J.Taylor, E. M.Caillier, S. J.Herbert, J.Khan, O. A.Cross, A. H.De Jager, P. L.Gourraud, P. A.Cree, B. C.Hauser, S. L.Oksenberg, J. R. Multiple sclerosis susceptibility alleles in African Americans. Genes Immun. 2010 June; 11(4): 343–350
7- Schmied, M. C.Zehetmayer, S.Reindl, M.Ehling, R.Bajer-Kornek, B.Leutmezer, F.et all. Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients. Neurogenetics (2012) 13:181–187
8- Sombekke, M. H.van der Voort, L. F.Kragt, J. J.Nielsen, J. M.Guzel, H.et all.Relevance of IL7R genotype and mRNA expression in Dutch patients with multiple sclerosis. Multiple Sclerosis Journal 17(8) 922–930

Keywords: RRMS, CD127 (IL7Ra) gene, rs6897932, Iran, Polymorphism, Genetic, relapsing remitting

Conference: 15th International Congress of Immunology (ICI), Milan, Italy, 22 Aug - 27 Aug, 2013.

Presentation Type: Abstract

Topic: Immune-mediated disease pathogenesis

Citation: Alsahebfosoul F, Salehi R, Zavaran Hosseni A, Etemadifar M, Kazemi M and Tajaddini M (2013). Association of SNP rs6897932 on CD127 gene in Relapsing Remitting Multiple Sclerosis (RRMS) patients compared to control group. Front. Immunol. Conference Abstract: 15th International Congress of Immunology (ICI). doi: 10.3389/conf.fimmu.2013.02.00902

Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters.

The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated.

Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed.

For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions.

Received: 27 Jun 2013; Published Online: 22 Aug 2013.

* Correspondence: Dr. Fereshteh Alsahebfosoul, Isfahan university of medical sceinces, Immunology Department, Isfahan, Isfahan, 8168797531, Iran, alsahebfosoul@med.mui.ac.ir