ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study

Objective: Tourette syndrome (TS) is a childhood neurodevelopmental disorder caused by various genetic and environmental factors and presents with apparent genetic heterogeneity. As ASH1L potentially contributes to neurodevelopmental diseases, especially in TS, we aim to investigate the susceptibility of ASH1L on TS in the Chinese Han population.

Methods: Three tag single nucleotide polymorphisms (SNPs) (rs5005770, rs12734374, and rs35615695) in ASH1L were screened in 271 TS nuclear family trios and 337 healthy subjects by the TaqMan assays real time. A case-control study combined with family-based analysis was applied to study the genetic susceptibility of common variants of ASH1L.

Results: The results revealed a significant over-transmission of rs35615695 and rs5005770 (for rs35615695, transmission disequilibrium test, χ² = 57.375, p = .000, HHRR, χ² = 4.807, p = .028; for rs5005770, HRR, χ² = 4.116, p = .042, HHRR, χ² = 8.223, p = .004) in family-based study. Furthermore, rs5005770 and rs35615695 still remained significant after Bonferroni correction (p < .017). However, the two SNPs (rs5005770 and rs35615695) were found not to be associated with TS in case-control study.

Conclusions: Our study suggests that ASH1L may contribute to TS susceptibility in the Han Chinese population and involved in TS development as a risk factor.