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- Title
Family-Based Analysis Combined with Case–Controls Study Implicate Roles of PCNT in Tourette Syndrome.
- Authors
Liu, Wenmiao; Guo, Yixia; Liu, Xiumei; Zhang, Ru; Dong, Jicheng; Deng, Hao; He, Fan; Che, Fengyuan; Liu, Shiguo; Yi, Mingji
- Abstract
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 PCNT 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: P=0.002, OR=0.691, 95% CI=0.547– 0.874; for rs2839227: P=0.001, OR=0.682, 95% CI=0.540– 0.860; for rs2839228: P=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: P=0.010; for rs2839227: P=0.008). Moreover, only rs2839227 remained significant after Bonferroni correction (P< 0.01). Conclusion: Our study suggested genetic variability at the PCNT locus may be associated with TS risk in the Chinese Han population.
- Subjects
TOURETTE syndrome; SINGLE nucleotide polymorphisms; NUCLEAR families; BONFERRONI correction; GENE frequency
- Publication
Neuropsychiatric Disease & Treatment, 2020, Vol 16, p349
- ISSN
1176-6328
- Publication type
Article
- DOI
10.2147/NDT.S229420