Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients

Teutsch, Suzy; Booth, David R.; Bennetts, Bruce; Heard, Robert; Stewart, Graeme J.

doi:10.1016/j.jneuroim.2003.12.003

Cited by 44 publications

(53 citation statements)

References 91 publications

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“…The G 49 allele of CTLA-4 was associated with MS susceptibility in two Scandinavian casecontrol studies (Harbo et al, 1999;Ligers et al, 1999) as well as in Olmsted County (Kantarci et al, 2003), and may influence disease severity in Japanese MS (Fukazawa et al, 1999b). However, multiple other case-control studies found no association with MS susceptibility (Masterman et al, 2000;Rasmussen et al, 2001;Bocko et al, 2003;van Veen et al, 2003a;Bonetti et al, 2004;Teutsch et al, 2004;Fukazawa et al, 2005;Lorentzen et al, 2005;Roxburgh et al, 2006). A family-based study in Canadian MS also found no association (Dyment et al, 2004); however, familybased studies with replication in French and southern European MS found an association, especially in families carrying the HLA-DRB1*15 haplotype (Alizadeh et al, 2003).…”

Section: Cytotoxic T-lymphocyte-associated Protein 4 (Ctla-4 or Cd152)mentioning

confidence: 97%

Genetics of primary progressive multiple sclerosis

Cree

2014

Handbook of Clinical Neurology

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Section: Cytotoxic T-lymphocyte-associated Protein 4 (Ctla-4 or Cd152)mentioning

confidence: 97%

Genetics of primary progressive multiple sclerosis

Cree

2014

Handbook of Clinical Neurology

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“…A trend towards association with the com m on shor t (8 repeat) allele of the variable num ber tande m repeat (VNTR) polymor p hi s m in the 3' untra nslate d region (3'UTR) of the gene has been report ed (Kantarci et al, 2003). In nine other case cont rol studies (Teutsch et al, 2004) no consisten t result s have emerged. We syste ma tically studied the gene in a large cohort of multiple sclerosis trio families (an affected individual and both paren t s).…”

Section: Introductionmentioning

confidence: 95%

“…In multiple sclerosis its influence on disease suscepti bility (Ligers et al, 1999, Fukazawa et al, 1999, Harbo et al, 1999, Rasm us se n et al, 2001, Dyment et al, 2002, Maurer et al, 2002, Kantarci et al, 2003, van Veen et al, 2003, Alizadeh et al, 2003, Teutsch et al, 2004 and course (Master m a n et al, 2002, Maurer et al, 2002 has been studied in a variety of populations. A trend towards association with the com m on shor t (8 repeat) allele of the variable num ber tande m repeat (VNTR) polymor p hi s m in the 3' untra nslate d region (3'UTR) of the gene has been report ed (Kantarci et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

No evidence of a significant role for CTLA-4 in multiple sclerosis

Roxburgh

Sawcer

Maranian

et al. 2006

Journal of Neuroimmunology

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Variation in the cytotoxic T-lymphocyt e -associated protein 4 (CTLA-4) gene plays a significant role in deter mi ning susceptibility to autoi m m u ne thyroid disease and type 1 diabetes. Its role in multiple sclerosis is more controversial. In order to explore this logical candidat e more thoroughly we genotyped 771 multiple sclerosis trio families from the United Kingdom for the 3'untra nslate d region variable num ber tande m repeat, the CT60 single nucleotide polymorp his m (SNP) and five haplotype -tagging SNPs. No individual mark er or comm o n haplotype showed evidence of association with disease. These data suggest that any effect of CTLA-4 on multi ple sclerosis susceptibility is likely to be very small.

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“…Two polymorphisms have been identified in CD28 that exhibit poorly reproduced association with systemic lupus erythematosus (SLE) and multiple sclerosis (MS). 4,5 In contrast, numerous studies link polymorphism in CTLA4 to susceptibility to Type I diabetes mellitus, Grave's disease, Hashimoto's thyroiditis, Addison's disease, SLE, MS and rheumatoid arthritis (RA), although some of these associations are controversial. 6 The general understanding of costimulation was transformed by the discovery of costimulatory molecules, including programmed death (PD)-1, ICOS and BTLA, which modulate the responses of previously activated T-and B cells by binding ligands expressed in secondary lymphoid organs or parenchymal (peripheral) tissues.…”

Section: Introductionmentioning

confidence: 99%

PDCD1: a tissue-specific susceptibility locus for inherited inflammatory disorders

et al. 2005

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Variation in genes encoding costimulatory molecules expressed on lymphocytes has been expected to contribute to the genetic component of inflammatory disease, but only the gene encoding the inhibitory protein, CTLA-4, seems consistently to confer disease susceptibility. Studies in murine models implicate the inhibitory product of the pd1 gene, programmed death-1, in the maintenance of peripheral tolerance to self-antigens. We identify 22 single-nucleotide polymorphisms (SNPs) in the equivalent human gene, PDCD1, a number of which show significant associations with the specific immunoglobulin E response to grass allergens in atopic individuals. Stepwise analyses indicate that four of the disease-associated SNPs have independent effects. The two most common haplotypes show positive and negative associations but rarer haplotypes are also likely to be of influence. In a case-control study, multiple regression analysis of genotypic data implies that PDCD1 also confers susceptibility to rheumatoid arthritis. Along with work linking PDCD1 with susceptibility to another autoimmune condition, systemic lupus erythematosus, our data identify PDCD1 as a second immunomodulatory gene with pleiotropic effects in human disease. Genes encoding negative regulators may generally confer a significant fraction of the genetic risk associated with inherited inflammatory disorders.

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Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients

Cited by 44 publications

References 91 publications

Genetics of primary progressive multiple sclerosis

Genetics of primary progressive multiple sclerosis

No evidence of a significant role for CTLA-4 in multiple sclerosis

PDCD1: a tissue-specific susceptibility locus for inherited inflammatory disorders

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