Table 2.

Eight SNPs associated with autoimmune disease and transcript variation

567tbl2

[i] Disease association P-values are as reported (Wellcome Trust Case Control Consortium 2007a,b; Todd et al. 2007). The PTPN2 P-value is a trend test for all three diseases listed (Wellcome Trust Case Control Consortium 2007a). Distances to splice sites are given only to the closer of the two sites for the relevant exon; negative distances indicate upstream SNPs. Fisher's combined P-values are given as −log10 values. (RA) Rheumatoid arthritis; (CD) Crohn's disease; (AS) ankylosing spondylitis; (T1D) Type I diabetes.

[ii] aIRF5 splice variants have also been associated with systemic lupus erythematosus (Graham et al. 2007; Kozyrev et al. 2007).

[iii] bOAS1 splice variants have also been associated with multiple sclerosis (Fedetz et al. 2006) and viral infectivity (Bonnevie-Nielsen et al. 2005).