Infante Jon, Sánchez-Juan Pascual, Mateo Ignacio, Rodríguez-Rodríguez Eloy, Sánchez-Quintana Coro, Llorca Javier, Fontalba Ana, Terrazas Jesús, Oterino Agustín, Berciano José, Combarros Onofre
Service of Neurology, University Hospital Marqués de Valdecilla (University of Cantabria), Santander, Spain.
J Neurol Sci. 2007 May 15;256(1-2):68-70. doi: 10.1016/j.jns.2007.02.008. Epub 2007 Mar 23.
Poly (ADP-ribose) polymerase-1 (PARP-1) is involved in crucial pathogenic events in Parkinson's disease (PD). We studied the effect of promoter variations of PARP-1 gene on the risk for PD in a case-control association study comprising 146 PD patients and 161 controls from Northern Spain. Three polymorphisms from the promoter region of PARP-1 gene were analyzed: -410C/T, -1672G/A, and a (CA)n microsatellite. A protective effect against PD was found for heterozygosity at (-410) (OR 0.44) and (CA)n microsatellite (OR 0.53) polymorphisms, and heterozygosity at (-1672) polymorphism delayed by 4 years on the onset age of PD. Variations in the regulatory region of PARP-1 gene might modify the risk for PD.
聚（ADP-核糖）聚合酶-1（PARP-1）参与帕金森病（PD）的关键致病过程。在一项病例对照关联研究中，我们研究了PARP-1基因启动子变异对PD发病风险的影响，该研究纳入了来自西班牙北部的146例PD患者和161例对照。分析了PARP-1基因启动子区域的三个多态性：-410C/T、-1672G/A和一个（CA）n微卫星。发现（-410）（OR 0.44）和（CA）n微卫星多态性的杂合性对PD具有保护作用，（-1672）多态性的杂合性使PD发病年龄延迟了4年。PARP-1基因调控区域的变异可能会改变PD的发病风险。
