Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population

详细信息    查看全文

• 作者：Anamika Giri^a ; ^b ; ¹ ; Kin Y. Mok^c ; ¹ ; Iris Jansen^b ; ^d ; Manu Sharma^a ; ^e ; Christelle Tesson^f ; Graziella Mangone^f ; Suzanne Lesage^f ; Jos&eacute ; M. Bras^c ; Joshua M. Shulman^g ; Una-Marie Sheerin^c ; International Parkinson's Disease Consortium (IPDGC)²
• 关键词：TMEM230 ; Parkinson's disease ; IPDGC ; Rotterdam Study Exome Sequencing Database ; SKAT-O ; Mutation screening
• 刊名：Neurobiology of Aging
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：50
• 期：Complete
• 页码：167.e11-167.e13
• 全文大小：207 K
• 卷排序：50

文摘

Mutations in TMEM230 have recently been associated to Parkinson's disease (PD). To further understand the role of this gene in the Caucasian population, we interrogated our large repository of next generation sequencing data from unrelated PD cases and controls, as well as multiplex families with autosomal dominant PD. We identified 2 heterozygous missense variants in 2 unrelated PD cases and not in our control database (p.Y106H and p.I162V), and a heterozygous missense variant in 2 PD cases from the same family (p.A163T). However, data presented herein is not sufficient to support the role of any of these variants in PD pathology. A series of unified sequence kernel association tests also failed to show a cumulative effect of rare variation in this gene on the risk of PD in the general Caucasian population. Further evaluation of genetic data from different populations is needed to understand the genetic role of TMEM230 in PD etiology.