Influence of interleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6 (SCA6) in Japanese patients

An inverse correlation is observed between the expanded CAG repeat number and age-at-onset of spinocerebellar ataxia 6 (SCA6). To detect another modifying genetic factor for SCA6, we studied polymorphisms in the genes for interleukin (IL)-1β and tumor necrosis factor in 122 Japanese patients with SCA6. No contribution of these polymorphisms to the variance in disease onset was observed by regression analysis or by ANOVA. The IL-1β promoter polymorphism, however, significantly affected the age-at-onset, when adjusted for the CAG repeat number as a covariate ( P =0.0004, by ANCOVA), suggesting that IL-1β may be a genetic factor other than the SCA6 gene that modifies the age-at-onset of the disease.