Zhou Qingqing, Yang Jing, Cao Bei, Chen Yongping, Wei Qianqian, Ou Ruwei, Song Wei, Zhao Bi, Wu Ying, Shang Huifang
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Parkinsons Dis. 2016;2016:9281790. doi: 10.1155/2016/9281790. Epub 2016 Apr 28.
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.
背景。一项全基因组关联研究（GWAS）表明，颈部肌张力障碍（CD）与钠渗漏通道非选择性（NALCN）基因之间可能存在关联。然而，在亚洲人群中，NALCN与CD之间的关联在很大程度上尚不清楚。本研究旨在检测中国人群中NALCN基因的两个单核苷酸多态性（SNP）rs1338041和rs61973742与CD之间的关联。方法。在一组201例孤立性CD患者中，我们使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）对两个SNP rs1338041和rs61973742进行基因分型。我们还纳入了来自同一地区的289名无亲缘关系、年龄和性别匹配的健康对照（HC）。结果。在CD患者和HC之间，两个SNP的基因型分布或次要等位基因频率（MAF）均未观察到显著差异。早发性和晚发性CD患者之间、有和没有肌张力障碍家族史阳性的患者之间、有和没有震颤或感觉技巧的患者之间均无显著差异。结论。NALCN的SNP与CD之间缺乏关联表明，NALCN的SNP在中国人群的CD中不发挥作用。
