Abstract
We systematically assessed 53 genes involved in T cell signaling, among which 72 SNPs in 32 genes were reported in databases as causing non-synonymous amino acid substitutions. Screening of 41 of these SNPs in DNA pools from 4000 Norwegian controls showed that only 12 SNPs (29%) were polymorphic. These were tested for association to MS in DNA pools from 364 Norwegian MS patients. To eliminate sources of variance introduced by DNA pooling, the SNPs in the best-ranked PLCG1 as well as the PTPN22 gene were thereafter genotyped in individual MS and control samples, however, without finding evidence for association to MS.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA / analysis
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DNA / genetics
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DNA Mutational Analysis
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Gene Frequency
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Genetic Markers / genetics
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Genetic Markers / immunology
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Lymphocyte Activation / genetics
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Lymphocyte Activation / immunology
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Multiple Sclerosis / genetics*
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Multiple Sclerosis / immunology
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Norway
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Open Reading Frames / genetics*
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Open Reading Frames / immunology
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Phospholipase C gamma / genetics
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Polymorphism, Genetic / genetics*
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Polymorphism, Genetic / immunology
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Polymorphism, Single Nucleotide / genetics
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Polymorphism, Single Nucleotide / immunology
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Protein Tyrosine Phosphatase, Non-Receptor Type 22
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Protein Tyrosine Phosphatases / genetics
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Signal Transduction / genetics*
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Signal Transduction / immunology
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T-Lymphocytes / immunology*
Substances
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Genetic Markers
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DNA
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PTPN22 protein, human
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Protein Tyrosine Phosphatase, Non-Receptor Type 22
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Protein Tyrosine Phosphatases
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Phospholipase C gamma