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Article
Response to interferon-beta treatment in multiple sclerosis patients: a genome-wide association study
Up to 50% of multiple sclerosis (MS) patients do not respond to interferon-beta (IFN-β) treatment and determination of response requires lengthy clinical follow-up of up to 2 years. Response predictive genetic...
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Article
ANKRD55 and DHCR7 are novel multiple sclerosis risk loci
Multiple sclerosis (MS) shares some risk genes with other disorders hallmarked by an autoimmune pathogenesis, most notably IL2RA and CLEC16A. We analyzed 10 single-nucleotide polymorphisms (SNPs) in nine risk gen...
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Article
A cytokine gene screen uncovers SOCS1 as genetic risk factor for multiple sclerosis
Cytokine and cytokine receptor genes, including IL2RA, IL7R and IL12A, are known risk factors for multiple sclerosis (MS). Excitotoxic oligodendroglial death mediated by glutamate receptors contributes to demyeli...
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Article
Replication of top markers of a genome-wide association study in multiple sclerosis in Spain
Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system with presumed autoimmune origin, triggered by genetic and environmental risk factors. A recent genome-wide association st...
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Article
Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection
In recent reports, IRF5 polymorphisms showed significant association with multiple sclerosis (MS) susceptibility in three studied populations and Irf5-deficient mice exhibited an increased susceptibility to viral...
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Article
The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated di...
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Article
Haplotype analysis of the preprotachykinin-1 (TAC1) gene in multiple sclerosis
The potential relevance of chromosome 7q21–22 in susceptibility to multiple sclerosis (MS) has been highlighted in genome-wide linkage screens as well as in association studies of 7q-specific polymorphic micro...
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Article
IFNG polymorphisms are associated with gender differences in susceptibility to multiple sclerosis
Interferon-gamma (IFNγ) treatment is deleterious in multiple sclerosis (MS). MS occurs twice as frequently in women as in men. IFNγ expression varies by gender. We studied a population-based sample of US MS pa...
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Article
Linkage disequilibrium analysis of chromosome 12q14–15 in multiple sclerosis: delineation of a 118-kb interval around interferon-γ (IFNG) that is involved in male versus female differential susceptibility
We have recently reported the association of a polymorphic intronic CA-repeat in the interferon-gamma gene (IFNG) with gender bias in susceptibility to multiple sclerosis (MS) in a Sardinian population. This a...
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Article
Novel polymorphisms in the IL-10 related AK155 gene (chromosome 12q15)
AK155 is a recently discovered cytokine distantly related to IL-10. Its gene is located on chromosome 12q15, a region that is likely to harbour susceptibility genes for autoimmune and allergic diseases. We pro...
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Article
High-resolution analysis of IL-6 minisatellite polymorphism in Sardinian multiple sclerosis: effect on course and onset of disease
A minisatellite polymorphism located in the 3′ flanking region of the interleukin-6 (IL-6) gene was analysed in 192 Sardinian simplex families with multiple sclerosis (MS). By applying a high-resolution sizing...
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Article
Lack of association between the interferon regulatory factor-1 (IRF1) locus at 5q31.1 and multiple sclerosis in Germany, Northern Italy, Sardinia and Sweden
Interferon regulatory factor-1 (IRF-1) is a transcriptional inducer of the interferon-β (IFN-β) gene and other interferon-stimulated genes. A GT repeat polymorphism in the 7th intron of the IRF-1 gene was used...