Polymorphism of neurodegeneration-related genes associated with Parkinson's disease risk
Polymorphism of neurodegeneration-related genes associated with Parkinson's disease risk
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DOI：
10.1007/s10072-022-06192-8
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发表时间：
2022-06-13
影响因子：
3.3
通讯作者：
Zhang，Yuan
中科院分区：
文献类型：
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作者：
Li，Jiaxin;Yi，Minhan;Zhang，Yuan
背景神经退行性基因在帕金森病（Parkinson 'sdisease，PD）的神经元丢失中起着关键作用。我们进行了系统的荟萃分析，包括所有的研究发表在PD风险相关的基因编码的酶至关重要的多巴胺代谢和neurons survival.MethodsWe包括神经退行性疾病相关的基因被分为四组，根据其功能：多巴胺代谢中的主要酶，多巴胺或其他代谢物的受体和转运蛋白，多巴胺能神经元的神经保护因子，以及在其他神经系统疾病中报道的与多巴胺能神经元存活相关的基因。我们从PubMed、Embase和Web of Science数据库中收集了原始文章。采用Revman5.3软件进行数据分析。采用等位基因模型（AM）检验病例组和对照组间效应等位基因的效应大小，采用显性模型（DM）和隐性模型（RM）分析杂合子和纯合子对等位基因风险的贡献。比值比（OR）和95%置信区间（CI）被用来呈现汇总results.ResultsWe包括31个变异在20个基因的最终汇总分析。因此，SLC 6A 4/5-HTTHTTLPR、BDNFrs 56164415、FGF 20 rs 1721100、PARK 16 rs 823128、rs 823156、rs 947211、APOEe 2、A2 Mrs 669、RIT 2 rs 12456492、MAPTintron 9 H1 H2和STHrs 62063857变异与PD风险统计学相关，而COMT、DBH、MAO、DAT/SLC 6A 3、DRD 2、GRIN 2B、GSK 3 β、ATP 13 A2、LINGO 1、PICALM和GRN与PD风险无关。结论神经退行性变相关基因的几种变异与PD风险相关，这可能有助于加深对PD发病机制的认识，改善临床治疗策略。
BackgroundNeurodegenerative genes are critical in neuronal loss in Parkinson’s disease (PD). We performed a systematic meta-analysis including all the studies published on PD risk related to genes encoding enzymes vital for dopamine metabolism and neuron survival.MethodsWe included neurodegeneration-related genes which were divided into four groups according to their functions: main enzymes in dopamine metabolism, receptors and transporters for dopamine or other metabolites, neuroprotective factors for dopaminergic neurons, and genes associated with dopaminergic neurons survival reported in other neurological diseases. We collected original articles from PubMed, Embase, and Web of Science databases. Revman 5.3 software was used to analyze data. The allele model (AM) was used to test the effect size of the effect allele between the case group and the control group and secondary analysis using the dominant model (DM) and recessive model (RM) to analyze the contributions from heterozygote and homozygote to the allele risk. Odds ratio (OR) and 95% confidence interval (CI) were used to present the pooled results.ResultsWe included 31 variants in 20 genes for the final pooled analysis. Consequently,SLC6A4/5-HTTHTTLPR,BDNFrs56164415,FGF20rs1721100,PARK16rs823128, rs823156, rs947211,APOEe2,A2Mrs669,RIT2rs12456492,MAPTintron 9 H1H2, andSTHrs62063857 variants were statistically associated with PD risk while researched variants inCOMT, DBH,MAO,DAT/SLC6A3,DRD2,GRIN2B,GSK3β,ATP13A2,LINGO1,PICALM, andGRNwere not related to PD risk.ConclusionSeveral variants from neurodegeneration-related genes are associated with PD risk, which may help deepen the understanding of PD pathogenesis and improve clinical treatment strategies.