中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2013年
5期
324-328
,共5页
帕金森病%α突触核蛋白%多态性,单核苷酸%单元型%疾病遗传易感性
帕金森病%α突觸覈蛋白%多態性,單覈苷痠%單元型%疾病遺傳易感性
파금삼병%α돌촉핵단백%다태성,단핵감산%단원형%질병유전역감성
Parkinson disease%alpha-Synuclein%Polymorphism,single nucleotide%Haplotypes%Genetic predisposition to disease
目的 探讨α-突触核蛋白(SNCA)基因多态性与帕金森病易患性的关系.方法 选择515例帕金森病患者和450名健康对照,利用聚合酶链反应结合连接酶检测反应方法扩增江苏地区汉族人群中SNCA 2个单核苷酸多态性位点rs2736990和rs356219,分析各基因型、等位基因频率、单倍型和帕金森病易患性的关系.结果 病例组与对照组的年龄、性别匹配,具有可比性.SNCA基因多态性位点rs2736990C＞T的基因型(CC、CT、TT)分布[44.7％ (230/515)、44.7％ (230/515)、10.7％(55/515)和40.0％ (180/450)、43.6％ (196/450)、16.4％ (74/450),x2=7.264,P=0.027]和等位基因(C、T)频率[67.0％(690/1030)、33.0％ (340/1030)和61.8％ (556/900)、38.2％(344/900),x2=5.704,P=0.017]在帕金森病组与对照组之间差异有统计学意义,TT纯合子比率帕金森病组为10.7％ (55/515),显著低于对照组[16.4％ (74/450),x2=6.61,P=0.010].帕金森病组与对照组相比,rs356219A＞G的基因型(AA、AG、GG)分布[13.8％ (71/515)、45.4％(234/515)、40.8％(210/515)和22.4％ (101/450)、45.6％ (205/450)、32.0％ (144/450),x2=15.144,P＜0.01]和等位基因(A、G)频率[36.5％(376/1030)、63.5％ (554/1030)和45.2％(407/900)、54.8％(493/900),x2=15.138,P=0.001]差异有统计学意义,GG纯合子比率帕金森病组为40.8％ (210/515),显著高于对照组[32.0％ (144/450),x2=14.43,P=0.000].与对照组相比,CG单倍型增加帕金森病易患性(0R=1.439,95％ CI 1.199～1.727,P＜0.01),CA(OR=0.472,95％ CI 0.311 ～0.717,P=0.000)和TA(OR=0.799,95％ CI 0.663 ～0.963,P=0.019)单倍型降低帕金森病易患性.结论 江苏地区汉族人群中,SNCA基因多态性位点rs356219 G等位基因显著增加帕金森病易患性,rs2736990 T等位基因显著降低帕金森病易患性.SNCA单倍型与帕金森病发病有关.
目的 探討α-突觸覈蛋白(SNCA)基因多態性與帕金森病易患性的關繫.方法 選擇515例帕金森病患者和450名健康對照,利用聚閤酶鏈反應結閤連接酶檢測反應方法擴增江囌地區漢族人群中SNCA 2箇單覈苷痠多態性位點rs2736990和rs356219,分析各基因型、等位基因頻率、單倍型和帕金森病易患性的關繫.結果 病例組與對照組的年齡、性彆匹配,具有可比性.SNCA基因多態性位點rs2736990C＞T的基因型(CC、CT、TT)分佈[44.7％ (230/515)、44.7％ (230/515)、10.7％(55/515)和40.0％ (180/450)、43.6％ (196/450)、16.4％ (74/450),x2=7.264,P=0.027]和等位基因(C、T)頻率[67.0％(690/1030)、33.0％ (340/1030)和61.8％ (556/900)、38.2％(344/900),x2=5.704,P=0.017]在帕金森病組與對照組之間差異有統計學意義,TT純閤子比率帕金森病組為10.7％ (55/515),顯著低于對照組[16.4％ (74/450),x2=6.61,P=0.010].帕金森病組與對照組相比,rs356219A＞G的基因型(AA、AG、GG)分佈[13.8％ (71/515)、45.4％(234/515)、40.8％(210/515)和22.4％ (101/450)、45.6％ (205/450)、32.0％ (144/450),x2=15.144,P＜0.01]和等位基因(A、G)頻率[36.5％(376/1030)、63.5％ (554/1030)和45.2％(407/900)、54.8％(493/900),x2=15.138,P=0.001]差異有統計學意義,GG純閤子比率帕金森病組為40.8％ (210/515),顯著高于對照組[32.0％ (144/450),x2=14.43,P=0.000].與對照組相比,CG單倍型增加帕金森病易患性(0R=1.439,95％ CI 1.199～1.727,P＜0.01),CA(OR=0.472,95％ CI 0.311 ～0.717,P=0.000)和TA(OR=0.799,95％ CI 0.663 ～0.963,P=0.019)單倍型降低帕金森病易患性.結論 江囌地區漢族人群中,SNCA基因多態性位點rs356219 G等位基因顯著增加帕金森病易患性,rs2736990 T等位基因顯著降低帕金森病易患性.SNCA單倍型與帕金森病髮病有關.
목적 탐토α-돌촉핵단백(SNCA)기인다태성여파금삼병역환성적관계.방법 선택515례파금삼병환자화450명건강대조,이용취합매련반응결합련접매검측반응방법확증강소지구한족인군중SNCA 2개단핵감산다태성위점rs2736990화rs356219,분석각기인형、등위기인빈솔、단배형화파금삼병역환성적관계.결과 병례조여대조조적년령、성별필배,구유가비성.SNCA기인다태성위점rs2736990C＞T적기인형(CC、CT、TT)분포[44.7％ (230/515)、44.7％ (230/515)、10.7％(55/515)화40.0％ (180/450)、43.6％ (196/450)、16.4％ (74/450),x2=7.264,P=0.027]화등위기인(C、T)빈솔[67.0％(690/1030)、33.0％ (340/1030)화61.8％ (556/900)、38.2％(344/900),x2=5.704,P=0.017]재파금삼병조여대조조지간차이유통계학의의,TT순합자비솔파금삼병조위10.7％ (55/515),현저저우대조조[16.4％ (74/450),x2=6.61,P=0.010].파금삼병조여대조조상비,rs356219A＞G적기인형(AA、AG、GG)분포[13.8％ (71/515)、45.4％(234/515)、40.8％(210/515)화22.4％ (101/450)、45.6％ (205/450)、32.0％ (144/450),x2=15.144,P＜0.01]화등위기인(A、G)빈솔[36.5％(376/1030)、63.5％ (554/1030)화45.2％(407/900)、54.8％(493/900),x2=15.138,P=0.001]차이유통계학의의,GG순합자비솔파금삼병조위40.8％ (210/515),현저고우대조조[32.0％ (144/450),x2=14.43,P=0.000].여대조조상비,CG단배형증가파금삼병역환성(0R=1.439,95％ CI 1.199～1.727,P＜0.01),CA(OR=0.472,95％ CI 0.311 ～0.717,P=0.000)화TA(OR=0.799,95％ CI 0.663 ～0.963,P=0.019)단배형강저파금삼병역환성.결론 강소지구한족인군중,SNCA기인다태성위점rs356219 G등위기인현저증가파금삼병역환성,rs2736990 T등위기인현저강저파금삼병역환성.SNCA단배형여파금삼병발병유관.
Objective To explore the association between Parkinson' s disease (PD) and the single-nucleotide polymorphism rs2736990 and rs356219 of alpha-synuclein (SNCA) gene.Methods Five hundred and fifteen unrelated patients with sporadic PD and 450 healthy ethnically matched control subjects were consecutively recruited for the study.They were Han population from Jiangsu Province.Patients and normal controls were genotyped for SNCA (rs2736990 and rs356219) variants by ligase detection reaction.Results There was significant difference in the allele frequency(C,T) and genotypes (CC,CT,TT) of patients and controls for rs2736990C ＞T(67.0％ (690/1030),33.0％ (340/1030) vs 61.8％ (556/900),38.2％ (344/900),x2 =5.704,P =0.017 ; 44.7％ (230/515),44.7％ (230/515),10.7％ (55/515) vs 40.0％ (180/450),43.60％ (196/450),16.4％ (74/450),x2 =7.264,P =0.027,respectively) ; The frequencies of the homozygous genotype for this variant were 10.7％ (55/515),which were significantly lower than those in controls (16.4％ (74/450),X2 =6.61,P =0.010).A statisticall significant was found in the frequencies of the single alleles (A,G) and genotypes (AA,AC,GG) of rs356219 A ＞ G between PD patients and normal group (36.5％ (376/1030),63.5％ (554/1030) vs 45.2％ (407/900),54.8％ (493/900),x2 =15.138,P =0.001 ; 13.8％ (71/515),45.4％ (234/515),40.8％ (210/515) vs 22.40％ (101/450),45.6％ (205/450),32.O％ (144/450),x2 =15.144,P ＜0.01,respectively) ; The frequencies of the homozygous genotype for this variant were 40.80％ (210/515),which were significantly higher than those in controls (32.0％ (144/450),X2 =14.43,P =0.000).The frequency of the C-G haplotype was significantly higher in PD group compared to healthy controls(P ＜ 0.01 ;odds ratios (OR) =1.439; 95％ confidence intervals (95% CI) 1.199-1.727).The CA and TA haplotypes were significantly less frequent in patients than in controls (P =0.000,OR =0.472,95% CI 0.3-0.717 and P =0.019,OR =0.799,95％ CI 0.663-0.963,respectively).Conclusions SNCA gene may have an effect on susceptibility to PD in Han population from Jiangsu province,China.rs356219 G allele may have an increased risk of susceptibility to PD,rs2736990 T allele may have an decreased risk of susceptibility to PD.Further studies are needed to replicate the association that we observed.
