【Abstract】
Background 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.
Method 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.
Results 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.
Conclusion 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.
【中文摘要】
目的: 單核苷酸多態性（SNP）與帕金森病（PD）的發病密切相關。這項研究旨在探索中國南方人群中12個基因的12個新SNP位點與PD風險之間的關係。
方法: 使用SNaPshot技術在231名PD患者和249名對照中檢測12個基因的12個SNP位點情況。Meta分析用於評估本研究與已發表數據之間結果的異質性。通過表達數量性狀位點（eQTL）資料庫，分析SNP位點和基因表達之間的關係，探究SNP對基因表達的影響。
結果: SNCA的rs8180209（等位基因模型：p=0.047，OR=0.77；附加模型：p=0.047，OR=0.77），MCCC1的rs2270968（優勢模型：p=0.024，OR=1.52），DLG2的rs7479949（隱性模型; p=0.019，OR=1.52），GBF1的rs10748818（加性模型：p <0.001，OR=0.37）和MBNL2的rs4771268（隱性模型：p=0.003，OR=0.48）與PD相關的風險有顯著性關係。Meta分析表明，rs8180209，rs2270968，rs7479949和rs4771268的結果與之前的研究結論一致。
結論: 我們的研究證明在SNCA，MCCC1，DLG2，GBF1和MBNL2中五個新的SNP位點，可能與中國南方人群發生PD的風險有關。