Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis

Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Lotti Tajouri

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)13667-13679
Number of pages13
JournalInternational Journal of Molecular Sciences
Volume13
Issue number10
DOIs
Publication statusPublished - 1 Oct 2012

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interleukins
polymorphism
Polymorphism
progressions
genes
Multiple Sclerosis
Disease Progression
Interleukin-6
Genes
Alleles
magnetic permeability
pathogenesis
central nervous system
Neurology
blood
brain
Brain
Blood
Tissue
proteins

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Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) ; Tajouri, Lotti. / Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis. In: International Journal of Molecular Sciences. 2012 ; Vol. 13, No. 10. pp. 13667-13679.
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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.",
author = "{Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)} and Jun Yan and Jia Liu and Lin, {Clement Yihao} and Scott, {Rodney J.} and Jeannette Lechner-Scott and Booth, {David R.} and Stewart, {Graeme J.} and Simon Broadley and Deborah Mason and Lyn Griffiths and Pablo Moscato and Mark Slee and Bruce Taylor and James Wiley and Judith Field and Helmut Butzkueven and Kilpatrick, {Trevor J.} and Csurhes, {Peter A.} and Pender, {Michael P.} and McCombe, {Pamela A.} and Greer, {Judith M.} and Lotti Tajouri",
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Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis. / Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) ; Tajouri, Lotti.

In: International Journal of Molecular Sciences, Vol. 13, No. 10, 01.10.2012, p. 13667-13679.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)

AU - Yan, Jun

AU - Liu, Jia

AU - Lin, Clement Yihao

AU - Scott, Rodney J.

AU - Lechner-Scott, Jeannette

AU - Booth, David R.

AU - Stewart, Graeme J.

AU - Broadley, Simon

AU - Mason, Deborah

AU - Griffiths, Lyn

AU - Moscato, Pablo

AU - Slee, Mark

AU - Taylor, Bruce

AU - Wiley, James

AU - Field, Judith

AU - Butzkueven, Helmut

AU - Kilpatrick, Trevor J.

AU - Csurhes, Peter A.

AU - Pender, Michael P.

AU - McCombe, Pamela A.

AU - Greer, Judith M.

AU - Tajouri, Lotti

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N2 - 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.

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