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Interleukin-6 Gene Promoter-572 C Allele May Play a Role in Rate of Disease Progression in Multiple Sclerosis
The University of Queensland, Centre for Clinical Research, Royal Brisbane & Women’s Hospital, 4029 Brisbane, Australia
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; in revised form: 20 September 2012 / Accepted: 27 September 2012 / Published: 22 October 2012
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
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Yan, J.; Liu, J.; Lin, C.Y.; (ANZGene), A.N.Z.M.S.G.C.; 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.
Yan J, Liu J, Lin CY, (ANZGene) ANZMSGC, Csurhes PA, Pender MP, McCombe PA, Greer JM. Interleukin-6 Gene Promoter-572 C Allele May Play a Role in Rate of Disease Progression in Multiple Sclerosis. International Journal of Molecular Sciences. 2012; 13(10):13667-13679.
Yan, Jun; Liu, Jia; Lin, Clement Yihao; (ANZGene), Australia & New Zealand Multiple Sclerosis Genetics Consortium; Csurhes, Peter A.; Pender, Michael P.; McCombe, Pamela A.; Greer, Judith M. 2012. "Interleukin-6 Gene Promoter-572 C Allele May Play a Role in Rate of Disease Progression in Multiple Sclerosis." Int. J. Mol. Sci. 13, no. 10: 13667-13679.