Family-Based Analysis Combined with Case-Controls Study Implicate Roles of PCNT in Tourette Syndrome.

Objective: Tourette syndrome (TS) is a childhood-onset neuro-developmental disorder and the genetic factors play an important role in its etiology. As pericentrin (PCNT) binds to disruption-in-schizophrenia 1 (DISC1) and is a risk factor for many mental illnesses, we aimed to investigate the effect of PCNT on TS in the Chinese Han population.

Methods: Five tag single nucleotide polymorphisms (SNPs) (rs17371795, rs2839227, rs2839228, rs6518291 and rs9983522) in were screened in 407 TS nuclear family trios and 506 healthy persons by the TaqMan assays real-time. A common case-control study was designed to recognize differences in the genetic distributions. Additionally, we conducted a family based association study including transmission disequilibrium test, haplotype relative risk, and haplotype-based haplotype relative risk for these SNPs.

Results: The allele frequencies revealed a significant difference of rs17371795, rs2839227 and rs2839228 between TS patients and controls (for rs17371795: =0.002, OR=0.691, 95% CI=0.547-0.874; for rs2839227: =0.001, OR=0.682, 95% CI=0.540-0.860; for rs2839228: =0.028, OR=0.775, 95% CI=0.618-0.973) and genotypic distributions showed a positive association only in rs17371795 and rs2839227 (for rs17371795: =0.010; for rs2839227: =0.008). Moreover, only rs2839227 remained significant after Bonferroni correction (<0.01).

Conclusion: Our study suggested genetic variability at the PCNT locus may be associated with TS risk in the Chinese Han population.