Maraganore D M, Farrer M J, Hardy J A, Lincoln S J, McDonnell S K, Rocca W A
Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.
Neurology. 1999 Nov 10;53(8):1858-60. doi: 10.1212/wnl.53.8.1858.
We investigated the association of PD with a recently reported I93M mutation of the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene, and with a new and common polymorphic variant S18Y of the same gene. We did not identify the I93M mutation in any of 139 unrelated PD cases or 113 controls. However, S18Y polymorphism carriers had significantly lower risk of PD (odds ratio = 0.53; p = 0.03), and the risk reduction was greater for younger onset cases.
我们研究了帕金森病（PD）与最近报道的泛素羧基末端水解酶L1（UCH-L1）基因的I93M突变以及同一基因新发现的常见多态性变体S18Y之间的关联。在139例无亲缘关系的PD患者和113名对照者中，我们均未发现I93M突变。然而，S18Y多态性携带者患PD的风险显著降低（比值比 = 0.53；p = 0.03），且发病年龄较轻的病例风险降低幅度更大。
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