Houle Gabrielle, Schmouth Jean-François, Leblond Claire S, Ambalavanan Amirthagowri, Spiegelman Dan, Laurent Sandra B, Bourassa Cynthia V, Panisset Michel, Chouinard Sylvain, Dupré Nicolas, Vilariño-Güell Carles, Rajput Alex, Dion Patrick A, Rouleau Guy A
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Mov Disord. 2017 Feb;32(2):292-295. doi: 10.1002/mds.26753. Epub 2017 Feb 3.
Mutations in teneurin transmembrane protein 4 were reported to be a risk factor for essential tremor, but the relevance of this across different population remains to be examined. The aim of this study was to determine the frequency and spectrum of variations in teneurin transmembrane protein 4 in a cohort of Canadian essential tremor cases.
The coding portion of teneurin transmembrane protein 4 was sequenced in 269 unrelated essential tremor cases and 288 matched control individuals using a targeted and high-throughput sequencing approach.
A total of 157 single nucleotide variations were identified, and from these 99 were a missense or nonsense mutation. A total of 68 cases were carriers of ≥1 rare missense or nonsense mutations, and 39 control individuals were carriers of the same types of variations. Gene-based association tests were used to jointly analyze the single nucleotide variations.
Our results do not support a positive association between teneurin transmembrane protein 4 and the Canadian population. © 2017 International Parkinson and Movement Disorder Society.
据报道，跨膜蛋白4（teneurin transmembrane protein 4）的突变是特发性震颤的一个风险因素，但这种情况在不同人群中的相关性仍有待研究。本研究的目的是确定加拿大特发性震颤病例队列中跨膜蛋白4变异的频率和范围。
采用靶向高通量测序方法，对269例无亲缘关系的特发性震颤病例和288例匹配的对照个体的跨膜蛋白4编码部分进行测序。
共鉴定出157个单核苷酸变异，其中99个为错义或无义突变。共有68例病例携带≥1个罕见的错义或无义突变，39例对照个体携带相同类型的变异。基于基因的关联测试用于联合分析单核苷酸变异。
我们的结果不支持跨膜蛋白4与加拿大人群之间存在正相关。©2017国际帕金森病和运动障碍协会。
