Common variants of LRRK2 are not associated with sporadic Parkinson's disease
Common variants of LRRK2 are not associated with sporadic Parkinson's disease
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DOI：
10.1002/ana.20664
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发表时间：
2005-12-01
影响因子：
11.2
通讯作者：
Gasser, T
中科院分区：
文献类型：
--
作者：
Biskup, S;Mueller, JC;Gasser, T
富含亮氨酸重复激酶 (LRRK2) 基因的多个突变导致常染色体显性迟发性帕金森病 (PARK8)。 Gly2019Ser 突变似乎在不同人群中很常见。为了研究这种新基因是否影响帕金森病的非孟德尔散发型，我们对来自德国的 340 名帕金森病患者和 680 名匹配对照受试者的 121 个单核苷酸多态性进行了基因分型，全面覆盖了整个 LRRK2 基因区域。无法证明任何关联。因此，我们没有证据表明 LRRK2 中存在对帕金森病风险有强烈影响的常见变异。
Multiple mutations in the gene for the leucine-rich repeat kinase (LRRK2) 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.