{"title":"伊朗人群帕金森病SNCA基因多态性的遗传分析","authors":"Mahnoosh Rahimi , Mojdeh Akbari , Javad Jamshidi , Abbas Tafakhori , Babak Emamalizadeh , Hossein Darvish","doi":"10.1016/j.baga.2017.08.001","DOIUrl":null,"url":null,"abstract":"<div><h3>Objectives</h3><p><span>Parkinson’s disease (PD) is a complex disorder influenced by genetic and environmental factors. One of the several genes indicated to be important in the etiology of PD is </span><em>SNCA.</em> Here we aimed to investigate the association of rs2301134, rs2301135, rs356221 and rs11931074 polymorphisms located in <em>SNCA</em> with PD.</p></div><div><h3>Material and methods</h3><p>A case-control study was designed using 500 sporadic PD patients and 500 healthy controls. DNA was extracted from peripheral blood of all subjects, and <em>SNCA</em> variations were genotyped using the PCR-RFLP method.</p></div><div><h3>Results</h3><p>Significant associations were found for the two promoter polymorphisms of the <em>SNCA</em> gene, rs2301134 and rs2301135 (p-value<!--> <!-->=<!--> <!-->0.009, OR<!--> <!-->=<!--> <!-->0.79 95%CI: 0.66–0.94 and p-value<!--> <!-->=<!--> <!-->0.001, OR<!--> <!-->=<!--> <!-->1.33 95%CI: 1.12–1.59 respectively for differences in allele frequencies). Genotype frequencies were also significantly different in case and control groups for rs11931074 polymorphism located in 3′UTR region of the gene (p-value<!--> <!-->=<!--> <!-->0.036).</p></div><div><h3>Discussion</h3><p>Our study indicates the possible effect of <em>SNCA</em> variations in the etiology of PD in the Iranian population.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"10 ","pages":"Pages 4-7"},"PeriodicalIF":0.0000,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2017.08.001","citationCount":"3","resultStr":"{\"title\":\"Genetic analysis of SNCA gene polymorphisms in Parkinson’s disease in an Iranian population\",\"authors\":\"Mahnoosh Rahimi , Mojdeh Akbari , Javad Jamshidi , Abbas Tafakhori , Babak Emamalizadeh , Hossein Darvish\",\"doi\":\"10.1016/j.baga.2017.08.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objectives</h3><p><span>Parkinson’s disease (PD) is a complex disorder influenced by genetic and environmental factors. One of the several genes indicated to be important in the etiology of PD is </span><em>SNCA.</em> Here we aimed to investigate the association of rs2301134, rs2301135, rs356221 and rs11931074 polymorphisms located in <em>SNCA</em> with PD.</p></div><div><h3>Material and methods</h3><p>A case-control study was designed using 500 sporadic PD patients and 500 healthy controls. DNA was extracted from peripheral blood of all subjects, and <em>SNCA</em> variations were genotyped using the PCR-RFLP method.</p></div><div><h3>Results</h3><p>Significant associations were found for the two promoter polymorphisms of the <em>SNCA</em> gene, rs2301134 and rs2301135 (p-value<!--> <!-->=<!--> <!-->0.009, OR<!--> <!-->=<!--> <!-->0.79 95%CI: 0.66–0.94 and p-value<!--> <!-->=<!--> <!-->0.001, OR<!--> <!-->=<!--> <!-->1.33 95%CI: 1.12–1.59 respectively for differences in allele frequencies). Genotype frequencies were also significantly different in case and control groups for rs11931074 polymorphism located in 3′UTR region of the gene (p-value<!--> <!-->=<!--> <!-->0.036).</p></div><div><h3>Discussion</h3><p>Our study indicates the possible effect of <em>SNCA</em> variations in the etiology of PD in the Iranian population.</p></div>\",\"PeriodicalId\":89327,\"journal\":{\"name\":\"Basal ganglia\",\"volume\":\"10 \",\"pages\":\"Pages 4-7\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.baga.2017.08.001\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Basal ganglia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2210533617300941\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Basal ganglia","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2210533617300941","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Genetic analysis of SNCA gene polymorphisms in Parkinson’s disease in an Iranian population
Objectives
Parkinson’s disease (PD) is a complex disorder influenced by genetic and environmental factors. One of the several genes indicated to be important in the etiology of PD is SNCA. Here we aimed to investigate the association of rs2301134, rs2301135, rs356221 and rs11931074 polymorphisms located in SNCA with PD.
Material and methods
A case-control study was designed using 500 sporadic PD patients and 500 healthy controls. DNA was extracted from peripheral blood of all subjects, and SNCA variations were genotyped using the PCR-RFLP method.
Results
Significant associations were found for the two promoter polymorphisms of the SNCA gene, rs2301134 and rs2301135 (p-value = 0.009, OR = 0.79 95%CI: 0.66–0.94 and p-value = 0.001, OR = 1.33 95%CI: 1.12–1.59 respectively for differences in allele frequencies). Genotype frequencies were also significantly different in case and control groups for rs11931074 polymorphism located in 3′UTR region of the gene (p-value = 0.036).
Discussion
Our study indicates the possible effect of SNCA variations in the etiology of PD in the Iranian population.
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