α1-抗糜蛋白酶信号肽基因及载脂蛋白E基因多态性与帕金森病的关系  

Association between polymorphism of α1-antichymotrypsin and apolipoprotein E gene and Parkinson′s disease in Shanghai Hans

作　　者：郝怡鑫[1] 谢惠君[1] 郑惠民[1] 徐凌[2] 吴奇涵[2] 汪晓华[2] 林大宇[2] 汤国梅[2] 任大明[2] 

机构地区：[1]第二军医大学附属长海医院神经内科 [2]复旦大学生命科学学院遗传学研究所遗传工程国家重点实验室

出　　处：《中华医学杂志》2001年第19期1172-1175,共4页National Medical Journal of China

摘　　要：目的　探讨α1 抗糜蛋白酶 (AACT)信号肽基因多态、载脂蛋白E(ApoE)基因多态与帕金森病 (PD)发病风险间的关系。方法　采用聚合酶链式反应限制性片断长度多态性方法 (PCR RFLP) ,在 6 4例PD患者、10 1例健康老人对照中观察AACT信号肽基因多态、ApoE基因多态的分布 ,并通过比值比 (OR)对AACT多态、ApoE多态与PD作相关分析。结果　 (1)PD患者与正常老人间不存在AACT各等位基因多态分布的差异 (χ2 =0 83P =0 36 3>0 0 5 ) ,但PD患者AACT AA纯合子基因型与PD正关联 (OR =2 6 8,χ2 =4 31P =0 0 38<0 0 5 )。 (2 )ApoE基因多态性与PD之间不存在任何关联(等位基因 :χ2 =2 85P =0 2 41>0 0 5 ;基因型 :χ2 =9 2 5P =0 0 99>0 0 5 )。 (3)非ApoEε4型AACT AT杂合子基因型与PD负关联 (OR =0 47,χ2 =4 10P =0 0 43 <0 0 5 )。 (4)AACT AT杂合子型PD与ApoEε4等位基因正关联 (OR =3 2 6 ,χ2 =5 5 3P =0 0 19<0 0 5 )。结论　AACT AA纯合子基因型、ApoEε4型AACT AT杂合子基因型均可能是PD发病的风险因子。Objective To explore the relationship between polymorphism of α1 antichymotrypsin(AACT) and apolipoprotein E(ApoE) genes and the risk of Parkinson′s disease(PD) in Shanghai Hans Methods Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to study the distribution of AACT and ApoE gene polymorphism in 64 PD cases and 101 healthy elderly persons as controls Association analysis was performed using odds ratio ( OR ) and χ 2 test Results No difference in distribution of AACT A/T allele polymorphism was found between PD cases and healthy controls(χ 2=0 83 P =0 363>0 05),but AACT AA genotype was associated with PD( OR =2 68,χ 2=4 31 P =0 038<0 05) The ApoE gene polymorphism was not associated with PD(allele:χ 2=2 85 P =0 241>0 05;genotype:χ 2=9 25 P =0 099>0 05) The AACT AT genotype frequency in PD patients was significantly lower than that in the controls without ApoE ε4 allele( OR =0 47,χ 2=4 10 P =0 043<0 05) In AACT AT genotype the ApoE ε4 allele was associated with PD( OR =3 26,χ 2=5 53 P =0 019<0 05) Conclusion The AACT AA genotype and AACT AT genotype with ApoEε4 might be susceptible factors for PD in Shanghai Hans

关 键 词：帕金森病 Α1-抗糜蛋白酶 载脂蛋白E 基因多态性 

分 类 号：R742.5[医药卫生—神经病学与精神病学]