LRRK2的常见变异体与散发性帕金森病无关

• 作 者: Biskup S Mueller J.C Sharma M. T. Gasser 袁海峰
• 机 构: Hertie Institute for Clinical Brain Research Department of Neurodegenerative Disease Hoppe-Seyler S
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2006年05期
• 关键词: 帕金森病 变异体 非孟德尔式遗传 基因型 单核苷酸多态性 激酶 这种 发性 LRRK2

Multiple mutations in the gene for the leucine-rich repeat kinase (LKRK2) cause autosomal dominant late-onset parkinsonism (PARK8). The Gly2019Ser mutation appears to be common in different populations. To investigate whether this novel gene influences the non-Mendelian sporadic form of Parkinson’s disease, we genotyped 121 single nucleotide polymorphisms comprehensively covering the entire LRRK2 gene region in a set of 340 Parkinson’s disease patients and 680 matched control subjects from Germany. No association could be demonstrated. We have therefore no evidence for the existence of a common variant in LRRK2 that has a strong influence on Parkinson’s disease risk.

Multiple mutations in the gene for the leucine-rich repeat kinase (LKRK2) cause autosomal dominant late-onset parkinsonism (PARK8). The investigation of this novel gene influences the non-Mendelian sporadic form of Parkinson’s disease, we genotyped 121 single nucleotide polymorphisms comprehensively covering the entire LRRK2 gene region in a set of 340 Parkinson’s disease patients and 680 matched control subjects from Germany. No association could be demonstrated. We have therefore no evidence for the existence of a common variant in LRRK2 that has a strong influence on Parkinson’s disease risk.