COX-2基因rs20417、rs689466位点多态性与帕金森病发病相关性分析  

Correlation between rs20417 and rs689466 polymorphisms of COX-2 gene and the pathogenesis of Parkinson′s disease

作　　者：张拉 阿地拉·艾尼瓦尔 蒋森 王丹[2] 楼伟 高华[3] 孟新玲[4] 杨新玲[2] ZHANG La;Adila Ainiwaer;JIANG Sen;WANG Dan;LOU Wei;GAO Hua;MENG Xinling;YANG Xinling(Second Clinical Medical College(Department of Neurology,Second Affiliated Hospital),the Second Affiliated Hospital,Urumqi 830028,China;Department of Neurology,the Second Affiliated Hospital,Urumqi 830028,China;Department of Neurology,the Fifth Affiliated Hospital,Xinjiang Medical University,Urumqi 830011,China;Department of Encephalopathy,Affiliated Traditional Chinese Medicine Hospital,Xinjiang Medical University,Urumqi 830011,China)

机构地区：[1]新疆医科大学第二临床医学院(第二附属医院神经内科),乌鲁木齐830028 [2]新疆医科大学第二附属医院神经内科,乌鲁木齐830028 [3]新疆医科大学第五附属医院神经内科,乌鲁木齐830011 [4]新疆医科大学附属中医医院脑病一科,乌鲁木齐830011

出　　处：《新疆医科大学学报》2019年第12期1522-1527,共6页Journal of Xinjiang Medical University

基　　金：国家自然科学基金地区科学基金(81960243)

摘　　要：目的探讨环氧化酶-2(COX-2)基因的rs20417、rs689466位点多态性与新疆帕金森病(PD)的易感性。方法选取2018年3月-2019年7月在新疆医科大学相关附属医院确诊为PD的患者225例作为病例组。年龄≤50岁为早发型帕金森病组(EOPD组),年龄>50岁为晚发型帕金森病组(LOPD组),以Hoehn-Yahr(H-Y)分级评分量表评估病情严重程度。对照组为与PD组在年龄、性别上相匹配的,与PD组同期就诊于同一医院的健康志愿者人群及体检者共231例,利用聚合酶链反应(PCR-RFLP)对病例组和对照组的COX-2基因rs20417、rs689466位点进行多态性分析。结果COX-2基因rs20417位点PD组与对照组在基因型及等位基因上的频率分布差异无统计学意义(P>0.05)。分层分析中,PD组与对照组中年龄、性别、病情严重程度亚组间rs20417位点基因型以及等位基因频率差异均无统计学意义(P均>0.05)。COX-2基因rs689466位点PD组与对照组在基因型及等位基因上的频率分布差异均有统计学意义(P<0.05)。分层分析中,等位基因频率分布在病例组与对照组、年龄、病情严重程度中差异均有统计学意义(P均<0.05)。结论COX-2基因rs20417位点在PD组与对照组间基因型及等位基因分布无明显差异,与帕金森病的发生可能无相关性;而rs689466位点PD组与对照组对比在年龄、病情严重程度的等位基因分布有差异,可能与帕金森病的发生有关。ObjectiveTo investigate the susceptibility of rs20417 and rs689466 polymorphisms of cyclooxygenase-2(COX-2)gene in Parkinson′s disease(PD)in Xinjiang.MethodsFrom March 2018 to July 2019,225 patients diagnosed as PD in outpatient and inpatient of the relevant affiliated hospitals of Xinjiang Medical University were selected as the case group.The patients with early-onset Parkinson′s disease(eopd group)and late-onset Parkinson′s disease(lopd group)were younger than 50 years old.The severity of the disease was assessed by Hoehn Yahr(H-Y)rating scale.In the control group,231 healthy volunteers and physical examinees were matched with PD group in age and gender.PCR-RFLP was used to analyze the rs20417 and rs689466 loci of COX-2 gene in the case group and the control group.ResultsThere was no significant difference found in genotype and allele frequency distribution between PD group and control group(P>0.05).In stratified analysis,no significant difference can be identified in rs20417 genotype and allele frequency between PD group and control group(P>0.05).There was significant difference obsereved in genotype and allele frequency between PD group and control group(P<0.05).In stratified analysis,the allele frequency distribution in case group and control group was statistically significant in age,severity of the disease(P<0.05).ConclusionThere is no significant difference observed in rs20417 genotype and allele distribution between the PD group and the control group,and there is no correlation with the occurrence of Parkinson′s disease,either.The distribution of alleles in the age,and disease severity of the rs689466 PD group was significantly different from that of the control group,which may be related to the occurrence of Parkinson′s disease.

关 键 词：帕金森病 环氧化酶-2 rs20417 rs689466 

分 类 号：R742.5[医药卫生—神经病学与精神病学]