Family-Based Analysis Combined with Case–Controls Study Implicate Roles of PCNT in Tourette Syndrome
Received 31 August 2019
Accepted for publication 13 January 2020
Published 31 January 2020 Volume 2020:16 Pages 349—354
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 2
Editor who approved publication: Professor Yuping Ning
Wenmiao Liu, 1, 2,* Yixia Guo, 3,* Xiumei Liu, 4 Ru Zhang, 1, 2 Jicheng Dong, 5 Hao Deng, 6 Fan He, 7 Fengyuan Che, 8 Shiguo Liu, 1, 2 Mingji Yi 9
1Medical Genetics Department, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China; 2Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China; 3Child Health Care Department, Rizhao People’s Hospital, Rizhao, People’s Republic of China; 4Department of Pediatrics, Yuhuangding Hospital of Qingdao University, Yantai, People’s Republic of China; 5Department of Psychiatry, Mental Health Center of Qingdao, Qingdao, People’s Republic of China; 6Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, People’s Republic of China; 7Center of Schizophrenia, Laboratory of Brain Disorders, Beijing Institute for Brain Disorders, Beijing Anding Hospital, Capital Medical University, Beijing, People’s Republic of China; 8Department of Neurology, Linyi People’s Hospital, Linyi People’s Hospital, Linyi, People’s Republic of China; 9Child Health Care Department, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Shiguo Liu; Mingji Yi
The Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao 266003, People’s Republic of China
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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 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.
Keywords: Tourette syndrome, PCNT, TDT, HRR, case-control study
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