Contribution of the interleukin-1b gene polymorphism in multiple system atrophy

We studied genetic polymorphisms in the promoter region at position -511 of the interleukin (IL) -1 gene (IL-1B-511) and at position -889 of the IL-1 gene (IL-1A-889), in 111 Japanese patients with multiple system atrophy (MSA) and 160 controls. The distribution of IL-1B-511 was significantly different between MSA patients and controls, because of the under-representation of patients with homozygotes for allele 2 (IL-1B-511*2), a high producer of IL-1. The frequency of IL-1A-889*2, a high secretor of IL-1, was also decreased in MSA patients. Our findings suggest that abnormal cytokine expression may be implicated in the pathogenesis of MSA.