title: Coding region polymorphisms in T cell signal transduction genes. Prevalence and association to development of multiple sclerosis.
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.
authors.affiliation: Institute of Immunology, University of Oslo, Oslo, Norway. h.f.harbo@medisin.uio.no
authors.forename: Hanne F
authors.initials: HF
authors.lastname: Harbo
authors.forename: Per O
authors.initials: PO
authors.lastname: Ekstrøm
authors.forename: Aslaug R
authors.initials: AR
authors.lastname: Lorentzen
authors.forename: Vibeke
authors.initials: V
authors.lastname: Sundvold-Gjerstad
authors.forename: Elisabeth G
authors.initials: EG
authors.lastname: Celius
authors.forename: Stephen
authors.initials: S
authors.lastname: Sawcer
authors.forename: Anne
authors.initials: A
authors.lastname: Spurkland
mesh_terms: D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics / Q000276:immunology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008213:Lymphocyte Activation / Q000235:genetics / Q000276:immunology; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology; D009664:Norway; D016366:Open Reading Frames / Q000235:genetics* / Q000276:immunology; D051966:Phospholipase C gamma / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics* / Q000276:immunology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics / Q000276:immunology; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology*
chemical_list: D005819:Genetic Markers; D004247:DNA; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases; D051966:Phospholipase C gamma