CTLA4 promoter and exon 1 dimorphisms in multiple sclerosis

The human cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene may be a candidate susceptibility gene in multiple sclerosis (MS). In this study th e distribution of the dimorphisms of exon 1 (+ 49 A/G) and promoter (-318 C /T) regions of the CTLA4 gene was analysed in 296 unrelated Norwegian MS pa tients and 271 matched controls by polymerase chain reaction and restrictio n fragment length polymorphism The frequency of the exon 1 (+ 49) AG genoty pe was increased in patients (57%) compared with controls (44%) (P-correcte d=0.01), and even more increased in patients with relapsing remitting MS (5 9%) (P-corrected=0.006). No other significant differences were found betwee n clinical subgroups oi patients or between HLA-DRB1*1501, DQB1*0602-positi ve and negative patients and controls.