Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated with the Shanghai Jiaotong University School of Medicine, Shanghai, China.
Department of Neurology, Ruijin Hospital North Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
J Cell Mol Med. 2020 Aug;24(15):8744-8752. doi: 10.1111/jcmm.15508. Epub 2020 Jul 11.
Numerous single nucleotide polymorphisms (SNPs), which have been identified as susceptibility factors for Parkinson's disease (PD) as per genome-wide association studies, have not been fully characterized for PD patients in China. This study aimed to replicate the relationship between 12 novel SNPs of 12 genes and PD risk in southern Chinese population. Twelve SNPs of 12 genes were detected in 231 PD patients and 249 controls, using the SNaPshot technique. Meta-analysis was used to assess heterogeneity of effect sizes between this study and published data. The impact of SNPs on gene expression was investigated by analysing the SNP-gene association in the expression quantitative trait loci (eQTL) data sets. rs8180209 of SNCA (allele model: P = .047, OR = 0.77; additive model: P = .047, OR = 0.77), rs2270968 of MCCC1 (dominant model: P = .024, OR = 1.52), rs7479949 of DLG2 (recessive model; P = .019, OR = 1.52), rs10748818 of GBF1 (additive model: P < .001, OR = 0.37), and rs4771268 of MBNL2 (recessive model: P = .003, OR = 0.48) were replicated to be significantly associated with the increased risk of PD. Noteworthy, a meta-analysis of previous studies suggested rs8180209, rs2270968, rs7479949 and rs4771268 were in line with those of our cohort. Our study replicated five novel functional SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 could be associated with increased risk of PD in southern Chinese population.
大量的单核苷酸多态性（SNPs）已被全基因组关联研究确定为帕金森病（PD）的易感性因素，但在中国 PD 患者中尚未得到充分表征。本研究旨在复制 12 个新的 SNPs 与南方中国人 PD 风险之间的关系。采用 SNaPshot 技术检测了 231 例 PD 患者和 249 例对照者 12 个基因的 12 个 SNPs。采用 Meta 分析评估了本研究与已发表数据之间效应大小的异质性。通过分析 SNP-基因关联在表达数量性状基因座（eQTL）数据集中的影响，研究了 SNPs 对基因表达的影响。SNCA 的 rs8180209（等位基因模型：P=0.047，OR=0.77；加性模型：P=0.047，OR=0.77）、MCCC1 的 rs2270968（显性模型：P=0.024，OR=1.52）、DLG2 的 rs7479949（隐性模型；P=0.019，OR=1.52）、GBF1 的 rs10748818（加性模型：P<0.001，OR=0.37）和 MBNL2 的 rs4771268（隐性模型：P=0.003，OR=0.48）被复制与 PD 风险增加显著相关。值得注意的是，对先前研究的 Meta 分析表明，rs8180209、rs2270968、rs7479949 和 rs4771268 与我们队列的结果一致。我们的研究复制了 5 个新的功能性 SNPs，即 SNCA、MCCC1、DLG2、GBF1 和 MBNL2，它们可能与南方中国人 PD 风险的增加有关。
