中华行为医学与脑科学杂志
中華行為醫學與腦科學雜誌
중화행위의학여뇌과학잡지
CHINESE JOURNAL OF BEHAVIORAL MEDICINE AND BRAIN SCIENCE
2012年
7期
598-600
,共3页
林庆玲%蔡彦守%王丹慧%丁晖%顾朱勤%马敬红%陈彪
林慶玲%蔡彥守%王丹慧%丁暉%顧硃勤%馬敬紅%陳彪
림경령%채언수%왕단혜%정휘%고주근%마경홍%진표
PITX3基因%晚发性帕金森病%早发性帕金森病%单核苷酸多态性
PITX3基因%晚髮性帕金森病%早髮性帕金森病%單覈苷痠多態性
PITX3기인%만발성파금삼병%조발성파금삼병%단핵감산다태성
PITX3 gene%Late-onset Parkinson's disease%Early-onset Parkinson's disease%Single nucleotide polymorphisns
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.
目的 分析中國人群PITX3基因多態性與帕金森病的相關性.方法 使用連接酶檢測反應(LDR)法,分析509例晚髮性帕金森病(LOPD)患者、290例早髮性帕金森病(EOPD)患者和494例正常對照中PITX3基因單覈苷痠多態性(SNPs)位點rs2281983、rs4919621和rs3758549基因型.結果 PITX3基因SNPs位點rs2281983、rs4919621和rs3758549的基因型和等位基因頻率在799例帕金森病患者和494例正常對照組間(基因型頻率P值分彆為0.494,0.343,0.951;等位基因頻率P值分彆為0.369,0.297,0.823)、509例LOPD和494例正常對照組間(基因型頻率P值分彆為0.522,0.350,0.630;等位基因頻率P值分彆為0.413,0.328,0.571)、290例EOPD和494例正常對照組間(基因型頻率P值分彆為0.499,0.492,0.552;等位基因頻率P值分彆為0.321,0.301,0.931)、509例LOPD和290例EOPD間(基因型頻率P值分彆為0.577,0.710,0.127;等位基因頻率P值分彆為0.346,0.472,0.077)均差異無統計學意義.三箇SNPs位點與PD無關聯.結論 中國人群中,PITX3基因多態性不是帕金森病的易感因素.
목적 분석중국인군PITX3기인다태성여파금삼병적상관성.방법 사용련접매검측반응(LDR)법,분석509례만발성파금삼병(LOPD)환자、290례조발성파금삼병(EOPD)환자화494례정상대조중PITX3기인단핵감산다태성(SNPs)위점rs2281983、rs4919621화rs3758549기인형.결과 PITX3기인SNPs위점rs2281983、rs4919621화rs3758549적기인형화등위기인빈솔재799례파금삼병환자화494례정상대조조간(기인형빈솔P치분별위0.494,0.343,0.951;등위기인빈솔P치분별위0.369,0.297,0.823)、509례LOPD화494례정상대조조간(기인형빈솔P치분별위0.522,0.350,0.630;등위기인빈솔P치분별위0.413,0.328,0.571)、290례EOPD화494례정상대조조간(기인형빈솔P치분별위0.499,0.492,0.552;등위기인빈솔P치분별위0.321,0.301,0.931)、509례LOPD화290례EOPD간(기인형빈솔P치분별위0.577,0.710,0.127;등위기인빈솔P치분별위0.346,0.472,0.077)균차이무통계학의의.삼개SNPs위점여PD무관련.결론 중국인군중,PITX3기인다태성불시파금삼병적역감인소.
Objective To investigate the relationship between polymorphism in the PITX3 gene and hereditary 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.Genotyping was carried out in all subjects using a ligase detection 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 ),between 509 LOPD patients and 494 controls ( P values of genotype 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,rs4919621 and rs3758549).There were no association petween the three PITX3 SNPs and PD.Conclusion Three PITX3 SNPs do not contribute to the risk of developing PD in Chinese population.