Determination of genetic factors influencing susceptibility to disease and response to interferon-B in multiple sclerosis (131.16)

• Published in: The Journal of immunology (1950) 2007-04, Vol.178 (1_Supplement), p.S240-S240
• Main Authors: O’Doherty, Catherine, Hawkins, Stanley, Hutchinson, Michael, Vandenbroeck, Koen
• Format: Article
• Language: English
• ISSN: 0022-1767; 1550-6606
• DOI: 10.4049/jimmunol.178.Supp.131.16

Treatment strategies of multiple sclerosis (MS) aim to slow progression of the disease and provide symptomatic relief. Interferon B (IFN B) is the most prominent disease modifying drug used in the treatment of MS. It has been shown to decrease relapse rates and delay progression of the disease. There are currently three proprietary IFN B products on the market; Avonex and Rebif (IFN B1a), and Betaferon (IFN B1b). Despite demonstrated efficacy, these products are not without their problems. There is considerable variation in response, with an estimated 30–50% of patients showing treatment failure, and high treatments costs. In essence, treatment is on a trial and error basis. To date there is no method of treatment outcome prediction at onset of treatment. In this study we have screened approximately 60 polymorphisms in over 30 candidate response genes, based on notions of their known function and the literature. We selected SNPs in the promoter region, hypothesising that polymorphisms may modify IFN inducibility. Additionally non-synonymous SNPs and those potentially affecting splicing, were also selected. Polymorphisms were typed in DNA samples from 260 Irish patients classified as responders or non-responders. A cohort of 120 healthy controls was also included in the study to determine whether these SNPs influenced susceptibility to MS.