Parkinson’s disease (PD) is a chronic neurodegenerative disease that has relatively slow progression with motor symptoms. Leucine-rich repeat kinase 2 (LRRK2) gene mutations and polymorphisms are suggested to be associated with PD. In this study, we aimed to investigate the association between single-nucleotide polymorphisms (SNPs) of the LRRK2 gene, namely, rs11176013, rs10878371, rs11835105, and PD. Genotypes of 132 PD cases and 133 healthy individuals were determined by qRT-PCR. Haplotype analysis was performed. Additionally, LRRK2 mRNA expression levels were determined in 83 PD cases and 55 healthy subjects. The relationship between LRRK2 mRNA levels, the target SNPs, and clinical data was also investigated. Our results indicated that the “GG” genotype and “G” allele of rs11176013 and the “CC” genotype and “C” allele of rs10878371 were more frequent in cases. The “GCG” haplotype was significantly more frequent in cases. LRRK2 mRNA expression levels in patients were significantly lower than those in healthy individuals. The patients with the “CC” genotype for rs10878371 and the “GG” genotype for rs11176013 had decreased LRRK2 mRNA levels. We found that the rs11176013 “GG” genotype and the rs10878371 “CC” genotype were less frequently seen in cases with akinetic rigid or combined akinetic rigid and tremor-dominant initial symptoms. Consequently, our results demonstrate that the rs11176013 and rs10878371 polymorphisms are associated with PD in a Turkish cohort, and moreover, these results suggest that these polymorphisms may affect the expression of the LRRK2 gene and disease progression and thus play a role in the pathogenesis of PD.

帕金森病 (PD) 是一种慢性神经退行性疾病，具有运动症状的进展相对缓慢。富含亮氨酸的重复激酶 2 (LRRK2)基因突变和多态性被认为与 PD 相关。在这项研究中，我们旨在研究LRRK2基因的单核苷酸多态性 (SNP) 之间的关联，即 rs11176013、rs10878371、rs11835105 和 PD。通过 qRT-PCR 确定 132 例 PD 病例和 133 例健康个体的基因型。进行了单倍型分析。此外，在 83 名 PD 病例和 55 名健康受试者中测定了LRRK2 mRNA 表达水平。LRRK2之间的关系还研究了 mRNA 水平、目标 SNP 和临床数据。我们的结果表明，rs11176013的“GG”基因型和“G”等位基因以及rs10878371的“CC”基因型和“C”等位基因在病例中更为常见。“GCG”单倍型在病例中明显更频繁。患者的LRRK2 mRNA表达水平显着低于健康个体。rs10878371为“CC”基因型和rs11176013为“GG”基因型的患者LRRK2降低mRNA水平。我们发现 rs11176013 “GG” 基因型和 rs10878371 “CC” 基因型在运动僵硬或结合运动僵硬和震颤为主的初始症状的病例中较少见。因此，我们的研究结果表明 rs11176013 和 rs10878371 多态性与土耳其队列中的 PD 相关，此外，这些结果表明这些多态性可能影响LRRK2基因的表达和疾病进展，从而在 PD 的发病机制中发挥作用.