Department of Neurology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province 210029, People's Republic of China.
Neurol India. 2013 Jul-Aug;61(4):360-4. doi: 10.4103/0028-3886.117595.
Previous genetic studies in Parkinson's disease (PD) have provided conclusive evidence for association of genes with strong biological rationale for PD. Recently several studies in different populations have found a strong association between idiopathic PD and the single-nucleotide polymorphism (SNP) rs2736990, located within an intron of the α-synuclein (SNCA) gene. In this study, we aimed to verify these findings and to explore the characteristic of the association in a subset of Chinese Han PD patients.
A total of 515 unrelated patients with sporadic PD and 450 healthy ethnically matched control subjects were recruited consecutively for the study. Patients and healthy controls were genotyped for SNCA rs2736990 variant by polymerase chain reaction - ligase detection reaction.
Our data showed a significant association between the rs2736990 polymorphism and PD, the frequency of the allele C in PD patients was significantly higher than that in controls (P = 0.017, OR = 1.26, 95% confident intervals (CI) =1.04-1.51). The distribution of C > T genotypes was different between patients and controls (P = 0.027). Furthermore, allele C of SNP rs2736990 in early-onset PD was significantly more frequent than that in healthy controls (P = 0.007, odds ratio = 1.60, 95% CI = 1.13-2.26).
Our study demonstrated that SNCA rs2736990 C > T polymorphism was associated with susceptibility to PD in Chinese Han population. Further studies are needed to replicate the association we found.
先前的帕金森病(PD)遗传学研究为与 PD 具有强生物学相关性的基因提供了确凿的证据。最近,不同人群的几项研究发现,位于α-突触核蛋白(SNCA)基因内含子中的单核苷酸多态性(SNP)rs2736990 与特发性 PD 之间存在强烈关联。本研究旨在验证这些发现,并在一部分中国汉族 PD 患者中探索该关联的特征。
共连续纳入 515 例散发性 PD 患者和 450 名具有相同种族的健康对照者用于该研究。通过聚合酶链反应-连接酶检测反应对 SNCA rs2736990 变异进行基因分型。
我们的数据显示,rs2736990 多态性与 PD 之间存在显著关联,PD 患者等位基因 C 的频率明显高于对照组(P=0.017,OR=1.26,95%置信区间[CI]:1.04-1.51)。患者和对照组间 C>T 基因型的分布不同(P=0.027)。此外,SNP rs2736990 的早发型 PD 等位基因 C 明显比健康对照组更常见(P=0.007,优势比=1.60,95%CI=1.13-2.26)。
我们的研究表明,SNCA rs2736990 C>T 多态性与中国汉族人群 PD 的易感性相关。需要进一步的研究来复制我们发现的关联。