Polymorphisms of interleukin 1 gene IL1RN are associated with Tourette syndrome.

Tourette syndrome has a multifactorial etiology in which genetic, environmental, and immunologic factors interact to establish vulnerability. Various interleukin 1 genes are associated with several immunoinflammatory diseases. It is not known whether polymorphisms in those genes are involved in the pathogenesis of Tourette syndrome. In this association study, single nucleotide polymorphisms were used to investigate the distribution of genotypes of the interleukin 1 receptor antagonist gene (IL1RN; alias IL1RA) and of the interleukin 1beta gene (IL1B) in patients with Tourette syndrome. A total of 159 children with Tourette syndrome and 175 healthy control subjects were included in the study. There was no significant difference between patients and control subjects in the distribution of genotype and allele frequencies for IL1B exon 5 and promoter region; however, the number of individuals homozygotic for IL1RN( *)1 was significantly greater (P < 0.0001), and the IL1RN( *)1 allele frequency was significantly higher (P < 0.0001), among patients than among control subjects. The odds ratio for developing Tourette syndrome in individuals with the IL1RN( *)1 allele, compared with IL1RN( *)2, was 7.65. Thus, the IL1RN gene may be a useful marker for prediction of the susceptibility to Tourette syndrome.