In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.031; odds ratio (OR)=4.25], DRD2 [rs2283265; risk allele "A" for pain; p = 0.001; OR=8.47] and, DRD2 [rs1076560; risk allele "A" for pain; p = 0.022; OR=4.58]. Additionally, bilateral disease [p = 0.011; OR=5.10] and gender [risk group "female"; p = 0.003; OR=8.53] were also identified as significant univariate risk factors for PD-related pain. Based on logistic regression analysis conducted with the significant univariate risk factors, this the first report to clarify that a female patient with bilateral PD and DRD2 rs2283265 polymorphism has a significant risk for PD-related pain. Our findings might contribute to improve life quality by offering treatment options for pain in PD patients with these clinical and genetic features.

中文翻译：

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功能性多巴胺 D2 和 D3 受体变异对早发性帕金森病运动和非运动症状的贡献

在本研究中，我们专注于研究功能性多巴胺 D2 和 D3 受体变体对早发性帕金森病 (EOPD) 运动和/或非运动症状的贡献。在 128 名土耳其 EOPD 患者中对三个功能性单核苷酸多态性 (SNP)，DRD3 rs6280、DRD2 rs2283265 和 DRD2 rs1076560 进行基因分型，然后对 SNP 对临床参数的潜在影响进行了统计分析。发现所有三个 SNP 在 PD 相关疼痛方面具有统计学意义：DRD3 [rs6280; 疼痛的风险等位基因“T”；p = 0.031；优势比 (OR)=4.25]，DRD2 [rs2283265; 疼痛的风险等位基因“A”；p = 0.001；OR=8.47] 和，DRD2 [rs1076560; 疼痛的风险等位基因“A”；p = 0.022；或=4.58]。此外，双侧疾病 [p = 0.011; OR=5.10]和性别[风险组“ 这是第一个阐明双侧 PD 和 DRD2 rs2283265 多态性的女性患者具有显着的 PD 相关疼痛风险的报告。我们的研究结果可能有助于通过为具有这些临床和遗传特征的 PD 患者的疼痛提供治疗选择来改善生活质量。这是第一个阐明双侧 PD 和 DRD2 rs2283265 多态性的女性患者具有显着的 PD 相关疼痛风险的报告。我们的研究结果可能有助于通过为具有这些临床和遗传特征的 PD 患者的疼痛提供治疗选择来改善生活质量。