Polymorphisms of Dopamine Receptor Genes and Risk of L-Dopa-Induced Dyskinesia in Parkinson's Disease
Polymorphisms of Dopamine Receptor Genes and Risk of L-Dopa-Induced Dyskinesia in Parkinson's Disease
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DOI：
10.3390/ijms18020242
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发表时间：
2017-02-01
影响因子：
5.6
通讯作者：
Cosentino, Marco
中科院分区：
文献类型：
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作者：
Comi, Cristoforo;Ferrari, Marco;Cosentino, Marco
左旋多巴诱发的运动障碍（LID）是帕金森病（PD）常见的运动并发症，与不良预后相关。先前的研究表明多巴胺受体（DR）基因（DR）变体与LID之间存在关联，其结果尚未得到证实。本研究的目的是在一个小的但特征良好的PD患者队列中确定DR的遗传差异是否与LID相关。为此，我们在病例对照研究中招募了100名PD受试者，其中50名患有LID，50名没有LID，年龄，性别，疾病持续时间和多巴胺能药物相匹配。我们对D1样DR（DRD 1A 48 G、DRD 1C 62 T和DRD 5 T798 C）和D2样DR（DRD 2G 2137 A、DRD 2C 957 T、DRD 3G 25 A、DRD 3G 712 C、DRD 4C 616 G和DRD 4 nR VNTR 48 bp）基因组DNA进行了单核苷酸多态性（SNP）的聚合酶链反应分析。我们的研究结果表明，携带DRD 3G 3127 A等位基因A的PD患者发生LID的风险增加（OR 4.9; 95% CI 1.7-13.9; p = 0.004）。本研究结果可能为PD患者的个体化药物治疗提供有价值的信息。
L-dopa-induced dyskinesia (LID) is a frequent motor complication of Parkinson's disease (PD), associated with a negative prognosis. Previous studies showed an association between dopamine receptor (DR) gene (DR) variants and LID, the results of which have not been confirmed. The present study is aimed to determine whether genetic differences of DR are associated with LID in a small but well-characterized cohort of PD patients. To this end we enrolled 100 PD subjects, 50 with and 50 without LID, matched for age, gender, disease duration and dopaminergic medication in a case-control study. We conducted polymerase chain reaction for single nucleotide polymorphisms (SNP) in both D1-like (DRD1A48G; DRD1C62T and DRD5T798C) and D2-like DR (DRD2G2137A, DRD2C957T, DRD3G25A, DRD3G712C, DRD4C616G and DRD4nR VNTR 48bp) analyzed genomic DNA. Our results showed that PD patients carrying allele A at DRD3G3127A had an increased risk of LID (OR 4.9; 95% CI 1.7-13.9; p = 0.004). The present findings may provide valuable information for personalizing pharmacological therapy in PD patients.