中国人群PITX3基因多态性与帕金森病的相关性  

Association of PITX3 polymorphism with Parkinson~ disease in Chinese patients

作　　者：林庆玲[1] 蔡彦宁[1] 王丹慧[1] 丁晖[1] 顾朱勤 马敬红[2] 陈彪[1] 

机构地区：[1]首都医科大学宣武医院神经生物学研究室,教育部神经变性病重点实验室,北京100053 [2]宣武医院神经内科 [3]国家人类基因研究组北方研究中心

出　　处：《中华行为医学与脑科学杂志》2012年第7期598-600,共3页Chinese Journal of Behavioral Medicine and Brain Science

基　　金：国家重点基础研究发展计划（2011CBA00408）;国家自然科学基金（81071011）;教育部新世纪优秀人才计划（NCET-10.0013）

摘　　要：目的分析中国人群PITX3基因多态性与帕金森病的相关性。方法使用连接酶检测反应（LDR）法，分析509例晚发性帕金森病（LOPD）患者、290例早发性帕金森病（EOPD）患者和494例正常对照中PITX3基因单核苷酸多态性（SNPs）位点rs2281983、rs4919621和rs3758549基因型。结果PITX3基因SNPs位点rs2281983、rs4919621和rs3758549的基因型和等位基因频率在799例帕金森病患者和494例正常对照组间（基因型频率P值分别为0．494，0．343，0．951；等位基因频率P值分别为0．369，0．297，0．823）、509例LOPD和494例正常对照组间（基因型频率P值分别为0．522，0．350，0．630；等位基因频率P值分别为0．413，0．328，0．571）、290例EOPD和494例正常对照组间（基因型频率P值分别为0．499，0．492，0．552；等位基因频率P值分别为0．321，0．301，0．931）、509例LOPD和290例EOPD间（基因型频率P值分别为0．577，0．710，0．127；等位基因频率P值分别为0．346，0．472，0．077）均差异无统计学意义。三个SNPs位点与PD无关联。结论中国人群中，PITX3基因多态性不是帕金森病的易感因素。Objective To investigate the relationship between polymorphism in the PITX3 gene and he- reditary susceptibility of Parkinson ＂s disease （PD）. Methods Three PITX3 single nucleotide polymorphisms （SNPs） ,including rs2281983, rs4919621 and rs3758549 were examined in 509 late-onset PD patients （LOPD） , 290 early-onset PD（EOPD） and 494 healthy controls. Ceuotyping was carried out in all subjects using a ligase de- tection reaction（LDR）. Results Allele and genotype frequencies did not differ between the 799 PD patients and 494 controls（ P values of genotype were 0. 494,0.343,0. 951 ; P values of allele were 0. 369,0. 297,0. 823 ） , be- tween 509 LOPD patients and 494 controls （ P values of geuotype were 0. 522,0. 350,0. 630; P values of allele were 0. 413,0. 328,0. 571 ） , between 290 EOPD patients and 494 controls （ P values of genotype were 0. 499, 0. 492,0. 552 ; P values of allele were 0. 321,0. 301,0. 931 ） ,and between 509 LOPD and 290 EOPD patients（ P values of genotype were 0. 577,0. 710,0. 127 ; P values of allele were 0. 346,0. 472,0. 077 ） for all three SNPs （rs2281983 ,rs491962l and rs3758549）. There were no association petween the three PITX3 SNPs and PD. Con- clusion Three PITX3 SNPs do not contribute to the risk of developing PD in Chinese population.

关 键 词：PITX3基因 晚发性帕金森病 早发性帕金森病 单核苷酸多态性 

分 类 号：R742.5[医药卫生—神经病学与精神病学]