Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia.

Qingqing Zhou,Bi Zhao,Jing Yang,Bei Cao,Huifang Shang,Ruwei Ou,Yongping Chen,Qianqian Wei,Ying Wu,Wei Song

doi:10.1155/2016/9281790

Abstract

Background. A genome-wide association study (GWAS) demonstrated a possible association between cervical dystonia (CD) and a sodium leak channel, nonselective (NALCN) gene. However, the association between NALCN and CD was largely unknown in Asian population. The present study was carried out to examine the associations between the two single nucleotide polymorphisms (SNPs) rs1338041 and rs61973742 in the NALCN gene and CD in a Chinese population. Methods. In a cohort of 201 patients with isolated CD, we genotyped the two SNPs rs1338041 and rs61973742 using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). We also included 289 unrelated, age- and sex-matched healthy controls (HCs) from the same region. Result. No significant differences were observed in either the genotype distributions or the minor allele frequencies (MAFs) of the two SNPs between the CD patients and the HCs. There were no significant differences between early-onset and late-onset CD patients, between patients with and without a positive family history of dystonia, or between patients with and without tremor or sensory tricks. Conclusion. Lack of association between the SNPs of NALCN and CD suggests that the SNPs of NALCN do not play a role in CD in a Chinese population.

Highlights

Dystonia is a movement disorder characterized by involuntary sustained or intermittent muscle contractions affecting one or more sites of the body causing abnormal, often repetitive movements, postures, or both [1]
We investigated the association of the most potential significance single nucleotide polymorphisms (SNPs) of NALCN with cervical dystonia (CD) in a Chinese population
No significant differences were found in the genotype distributions or minor allele frequencies (MAFs) of the two SNPs between CD patients and controls (Table 1)

Summary

Introduction

Dystonia is a movement disorder characterized by involuntary sustained or intermittent muscle contractions affecting one or more sites of the body causing abnormal, often repetitive movements, postures, or both [1]. Cervical dystonia (CD), the most common form of late-onset focal dystonia, is characterized by sustained or intermittent neck muscle contractions causing abnormal head movements and postures [2, 3]. At present, the genetic architecture of late-onset dystonia remains largely unknown [10]. The present study was carried out to examine the associations between the two single nucleotide polymorphisms (SNPs) rs1338041 and rs61973742 in the NALCN gene and CD in a Chinese population. No significant differences were observed in either the genotype distributions or the minor allele frequencies (MAFs) of the two SNPs between the CD patients and the HCs. There were no significant differences between early-onset and late-onset CD patients, between patients with and without a positive family history of dystonia, or between patients with and without tremor or sensory tricks. Lack of association between the SNPs of NALCN and CD suggests that the SNPs of NALCN do not play a role in CD in a Chinese population

Methods

Results

Conclusion