Department of Neurology, Singapore General Hospital, Singapore.
Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S63-5. doi: 10.1016/S1353-8020(11)70021-9.
A number of gene variants or single nucleotide polymorphisms (SNPs) have been shown to modulate the risk of Parkinson's disease (PD). These variants are identified from genetic association studies of familial PD and candidate genes, and from genome wide association studies (GWAS). These include REP1 dinucleotide repeat polymorphism within the promoter region of the SNCA gene, and SNPs within the vicinity of SNCA and LRRK2 genes. A number of exonic variants of LRRK2 (G2385R, R1628P, S1647T, M1646T, A419V, R1398H, N551K, Y2189C) have been shown to influence PD risk in various ethnic populations. Numerous GWAS linked loci including BST1 (bone marrow stromal cell antigen 1), PARK16 (parkinson disease 16 susceptibility), GAK (cyclin G associated kinase), and HLA (human leukocyte antigen) have also been identified. The genetic variants have differential effect on PD risk in Eastern and Western populations. Knowing the basis behind ethnic-specific variances would further our understanding of the pathophysiologic mechanisms and help planning of genetic testing programmes.
一些基因变异或单核苷酸多态性（SNPs）已被证明可以调节帕金森病（PD）的风险。这些变体是从家族性 PD 和候选基因的遗传关联研究以及全基因组关联研究（GWAS）中确定的。其中包括 SNCA 基因启动子区域内的 REP1 二核苷酸重复多态性，以及 SNCA 和 LRRK2 基因附近的 SNPs。LRRK2 的许多外显子变体（G2385R、R1628P、S1647T、M1646T、A419V、R1398H、N551K、Y2189C）已被证明会影响不同种族人群的 PD 风险。还确定了许多与 GWAS 相关的位点，包括 BST1（骨髓基质细胞抗原 1）、PARK16（帕金森病 16 易感性）、GAK（周期蛋白 G 相关激酶）和 HLA（人类白细胞抗原）。遗传变异对东西方人群的 PD 风险有不同的影响。了解特定种族差异的基础将进一步加深我们对病理生理机制的理解，并有助于规划基因检测计划。
