Coding region polymorphisms in T cell signal transduction genes. Prevalence and association to development of multiple sclerosis

详细信息    查看全文

• 作者：Hanne F. Harbo ; Per O. Ekstrø ; m ; Å ; slaug R. Lorentzen ; Vibeke Sundvold-Gjerstad ; Elisabeth G. Celius ; Stephen Sawcer and Anne Spurkland
• 关键词：Multiple sclerosis ; Genetic susceptibility ; T cell signal transduction genes ; PTPN22 ; DCE
• 刊名：Journal of Neuroimmunology
• 出版年：2006
• 出版时间：August 2006
• 年：2006
• 卷：177
• 期：1-2
• 页码：40-45
• 全文大小：232 K

文摘

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.