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Int. J. Mol. Sci. 2012, 13(10), 13667-13679; doi:10.3390/ijms131013667
Article

Interleukin-6 Gene Promoter-572 C Allele May Play a Role in Rate of Disease Progression in Multiple Sclerosis

1,* , 1
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2
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1
 and
1,*
1 The University of Queensland, Centre for Clinical Research, Royal Brisbane & Women’s Hospital, 4029 Brisbane, Australia 2 School of Medicine, The University of Queensland, and Department of Neurology, Royal Brisbane & Women’s Hospital, 4029 Brisbane, Australia Members of the ANZGene Consortium are listed in the Acknowledgements section.
* Authors to whom correspondence should be addressed.
Received: 2 August 2012 / Revised: 20 September 2012 / Accepted: 27 September 2012 / Published: 22 October 2012
(This article belongs to the Special Issue Recent Advances in the Research of Multiple Sclerosis)
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Abstract

Multiple sclerosis (MS) is an inflammatory demyelinating disease affecting the central nervous system. Although the exact pathogenesis of MS is unknown, it is generally considered to be an autoimmune disease, with numerous genetic and environmental factors determining disease susceptibility and severity. One important mediator of immune responses and inflammation is interleukin-6 (IL-6). Previously, elevated levels of IL-6 in mononuclear cells in blood and in brain tissue from MS patients have been reported. Various polymorphisms in the promoter region of the IL6 gene have also been linked with IL-6 protein levels. In MS, several small studies have investigated whether two IL6 promoter polymorphisms (−597 G>A and −174 G>C) correlate with MS susceptibility, but with varying results. In the present study, we analyzed these polymorphisms, together with an additional polymorphism (−572 G>C) in 279 healthy controls and 509 patients with MS. We found no significant differences between MS patients and healthy controls for the different −597 or −174 IL6 promoter alleles or genotypes. There was a slight reduction in the percentage of individuals with MS who carried a C allele at position −572, although this was not significant after correction for multiple comparisons. Interestingly, however, the −572 C allele showed a significant correlation with the MS severity score, suggesting a possible role in disease progression.
Keywords: multiple sclerosis; Interleukin-6; polymorphism; allele; genotype; disease progression multiple sclerosis; Interleukin-6; polymorphism; allele; genotype; disease progression
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Yan, J.; Liu, J.; Lin, C.Y.; Australia & New Zealand Multiple Sclerosis Genetics Consortium (ANZGene); Csurhes, P.A.; Pender, M.P.; McCombe, P.A.; Greer, J.M. Interleukin-6 Gene Promoter-572 C Allele May Play a Role in Rate of Disease Progression in Multiple Sclerosis. Int. J. Mol. Sci. 2012, 13, 13667-13679.

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