中国东北地区CD40及CD40L基因多态性与散发帕金森病的相关性分析
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摘要
目的 探究CD40基因rs1883832位点及CD40L基因rs1126535位点单核苷酸多态性与帕金森病(Parkinson disease,PD)的相关性。方法 本研究纳入285名中国东北地区汉族健康人和396例PD患者。根据其发病年龄将PD组患者再分为早发PD组(发病年龄≤50岁)和晚发PD组(发病年龄> 50岁),收集一般临床资料,提取外周血基因组DNA,利用MALDI-TOF-PEX技术检测rs1883832位点及rs1126535位点多态性分布情况,分析其与帕金森病的相关性。结果 EOPD组与对照组rs1883832位点基因型分布有统计学差异(P <0. 05),等位基因频率在两组间没有统计学差异。PD组和LOPD组与对照组在rs1883832位点及rs1126535位点上,基因型及等位基因型频率无统计学差异。结论 CD40基因rs1883832位点单核苷酸多态性与中国东北地区汉族早发帕金森病相关,T等位基因可能是EOPD的危险因素。
Objective We conducted a case-control study to verify the association of CD40 rs1883832 and CD40 L rs1126535 gene polymorphism with PD in the northeast Han Chinese population from mainland China. Methods A total of285 unrelated Han Chinese healthy people and 396 PD patients were included in the study. According to the onset age,the PD patients were divided into 2 groups: early onset PD group( onset age≤50 years old) and late onset PD group( > 50 years old). Clinical data was collected and peripheral blood genomic DNA was extracted,and the correlation of rs2070045 SOLR1 with Parkinson's disease was analyzed by using MALDI-TOF-PEX technology. Results No significant differences were found in the genotype and allele frequency for rs1883832 and rs1126535 between PD group and healthy control( HC)groups. The genotype for rs1883832 in the early-onset PD group was significantly different from that in the HC group( P >0. 05). There were no significant differences in genotype and allele frequency between late-onset PD and HC groups.Conclusion We have found that rs1883832 SNP of CD40 was associated with early-onset PD in the northeast Han Chinese population. T-allele of rs1883832 SNP increase the risk for early-onset PD,suggesting T-allele might be a risk factor of early-onset PD.
Objective We conducted a case-control study to verify the association of CD40 rs1883832 and CD40 L rs1126535 gene polymorphism with PD in the northeast Han Chinese population from mainland China. Methods A total of285 unrelated Han Chinese healthy people and 396 PD patients were included in the study. According to the onset age,the PD patients were divided into 2 groups: early onset PD group( onset age≤50 years old) and late onset PD group( > 50 years old). Clinical data was collected and peripheral blood genomic DNA was extracted,and the correlation of rs2070045 SOLR1 with Parkinson's disease was analyzed by using MALDI-TOF-PEX technology. Results No significant differences were found in the genotype and allele frequency for rs1883832 and rs1126535 between PD group and healthy control( HC)groups. The genotype for rs1883832 in the early-onset PD group was significantly different from that in the HC group( P >0. 05). There were no significant differences in genotype and allele frequency between late-onset PD and HC groups.Conclusion We have found that rs1883832 SNP of CD40 was associated with early-onset PD in the northeast Han Chinese population. T-allele of rs1883832 SNP increase the risk for early-onset PD,suggesting T-allele might be a risk factor of early-onset PD.
引文
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[6]Pamukcu B,Lip GY,Snezhitskiy V,et al.The CD40-CD40L system in cardiovascular disease[J].Ann Med,2011,43:331-340.
[7]Garcia-Bermudez M,Gonzalez-Juanatey C,Lopez-Mejias R,et al.Study of association of CD40-CD154 gene polymorphisms with disease susceptibility and cardiovascular risk in Spanish rheumatoid arthritis patients[J].PLo S One,2012,7:e49214.
[8]Sheng K,Fang W,Zhu Y,et al.Different alterations of cerebral regional homogeneity in early-onset and late-onset Parkinson's disease[J].Front Aging Neurosci,2016,8:165.
[9]Alcalay RN,Caccappolo E,Mejia-Santana H,et al.Frequency of known mutations in early-onset Parkinson disease:implication for genetic counseling:the consortium on risk for early onset Parkinson disease study[J].Arch Neurol,2010,67:1116-1122.
[10]Huang HT,Guo J,Xiang Y,et al.A SNP in 5’untranslated region of CD40 gene is associated with an increased risk of ischemic stroke in a Chinese population:a case-control study[J].Genet Mol Biol,2017,40:442-449.
[11]Zhang B,Wu T,Song C,et al.Association of CD40-1C/T polymorphism with cerebral infarction susceptibility and its effect on s CD40Lin Chinese population[J].Int Immunopharmacol,2013,16:461-465.
[12]Giunta B,Rezai-Zadeh K,Tan J.Impact of the CD40-CD40L dyad in Alzheimer’s disease[J].CNS Neurol Disord Drug Targets,2010,9:149-155.
[2]Okuno T,Nakatsuji Y,Kumanogoh A,et a.Loss of dopaminergic neurons by the induction of inducible nitric oxide synthase and cyclooxygenase-2 via CD 40:relevance to Parkinson’s disease[J].J Neurosci Res,2005,81:874-882.
[3]Jansen MF,Hollander MR,van Royen N,et al.CD40 in coronary artery disease:a matter of macrophages[J].Basic Res Cardiol,2016,111:38.
[4]Han L,Dai L,Zhao YF,et al.CD40L promotes development of acute aortic dissection via induction of inflammation and impairment of endothelial cell function[J].Aging(Albany NY),2018,10(3):371-385.
[5]Jin R,Xiao AY,Song Z,et al.Platelet CD40 mediates leukocyte recruitment and neointima formation after arterial denudation injury in atherosclerosis-prone mice[J].Am J Pathol,2018,188:252-263.
[6]Pamukcu B,Lip GY,Snezhitskiy V,et al.The CD40-CD40L system in cardiovascular disease[J].Ann Med,2011,43:331-340.
[7]Garcia-Bermudez M,Gonzalez-Juanatey C,Lopez-Mejias R,et al.Study of association of CD40-CD154 gene polymorphisms with disease susceptibility and cardiovascular risk in Spanish rheumatoid arthritis patients[J].PLo S One,2012,7:e49214.
[8]Sheng K,Fang W,Zhu Y,et al.Different alterations of cerebral regional homogeneity in early-onset and late-onset Parkinson's disease[J].Front Aging Neurosci,2016,8:165.
[9]Alcalay RN,Caccappolo E,Mejia-Santana H,et al.Frequency of known mutations in early-onset Parkinson disease:implication for genetic counseling:the consortium on risk for early onset Parkinson disease study[J].Arch Neurol,2010,67:1116-1122.
[10]Huang HT,Guo J,Xiang Y,et al.A SNP in 5’untranslated region of CD40 gene is associated with an increased risk of ischemic stroke in a Chinese population:a case-control study[J].Genet Mol Biol,2017,40:442-449.
[11]Zhang B,Wu T,Song C,et al.Association of CD40-1C/T polymorphism with cerebral infarction susceptibility and its effect on s CD40Lin Chinese population[J].Int Immunopharmacol,2013,16:461-465.
[12]Giunta B,Rezai-Zadeh K,Tan J.Impact of the CD40-CD40L dyad in Alzheimer’s disease[J].CNS Neurol Disord Drug Targets,2010,9:149-155.
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