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

International Journal of Molecular Sciences

Jun Yan³  Jia Liu³  Clement Yihao Lin³  rib-type="author">Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZGene)†Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZGene)†<¹  Peter A. Csurhes³  Michael P. Pender²  Pamela A. McCombe³ 

[1] School of Medicine, The University of Queensland, and Department of Neurology, Royal Brisbane & Women’s Hospital, 4029 Brisbane, Australia; E-Mail:;The University of Queensland, Centre for Clinical Research, Royal Brisbane & Women’s Hospital, 4029 Brisbane, Australia; E-Mails:

关键词: multiple sclerosis;    Interleukin-6;    polymorphism;    allele;    genotype;    disease progression;   

DOI  :  10.3390/ijms131013667

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2012 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland.