中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2012年
5期
292-296
,共5页
阿尔茨海默病%膜蛋白质类%ADAM蛋白质类%淀粉样前体蛋白分泌酶类%启动区(遗传学)%多态现象,遗传
阿爾茨海默病%膜蛋白質類%ADAM蛋白質類%澱粉樣前體蛋白分泌酶類%啟動區(遺傳學)%多態現象,遺傳
아이자해묵병%막단백질류%ADAM단백질류%정분양전체단백분비매류%계동구(유전학)%다태현상,유전
Alzheimer disease%Membrane proteins%ADAM proteins%Amyloid precursor protein secretases%Promoter regions (genetics)%Polymorphism,genetic
目的 探讨去整合蛋白和金属蛋白酶10(ADAM10)基因启动子区多态性与散发性阿尔茨海默病( sporadic Alzheimer's disease,SAD)的相关性.方法 采用随机数字表法抽取2000-2007年北京市宣武医院和秦皇岛市海港医院门诊10例SAD患者及10名健康对照者进行ADAM10基因启动子区测序,针对所发现的3个多态性位点,应用聚合酶链反应-限制性片段长度多态性的方法对315名健康对照者(对照组)及298例SAD患者(SAD组)进行基因型检测,并进行病例-对照相关性分析.结果 在ADAM10基因启动子区共发现3个多态性位点:- 279G/A( rs653765)、- 630G/T(rs514049)和- 921GAGA/-( rs33926666).其中- 921GAGA/-基因型频率[GAGA/GAGA:138(46.3%)、GAGA/-:155(52.0%)、-/-:5(1.7%)]和等位基因频率[GAGA:431(73.6%)、-:165(27.7%)]在SAD组和对照组之间差异有统计学意义(基因型:x2=34.130,P =0.000;等位基因型:x2=25.972,P =0.000),- 279G/A经ApoE分型后在不携带ApoEε4的亚组中,SAD组与对照组间的差异有统计学意义(基因型:x2=8.734,P=0.013;等位基因型:x2=5.129,P=0.024),- 279G 和- 921GAGA为SAD相对保护性的等位基因,两者之间不存在连锁不平衡关系.结论 ADAM10基因启动子区-279G/A和- 921GAGA/-多态性与SAD的发病具有一定的相关性,-279G/G基因型和-921GAGA/GAGA基因型对SAD的发病可能具有一定的保护作用.
目的 探討去整閤蛋白和金屬蛋白酶10(ADAM10)基因啟動子區多態性與散髮性阿爾茨海默病( sporadic Alzheimer's disease,SAD)的相關性.方法 採用隨機數字錶法抽取2000-2007年北京市宣武醫院和秦皇島市海港醫院門診10例SAD患者及10名健康對照者進行ADAM10基因啟動子區測序,針對所髮現的3箇多態性位點,應用聚閤酶鏈反應-限製性片段長度多態性的方法對315名健康對照者(對照組)及298例SAD患者(SAD組)進行基因型檢測,併進行病例-對照相關性分析.結果 在ADAM10基因啟動子區共髮現3箇多態性位點:- 279G/A( rs653765)、- 630G/T(rs514049)和- 921GAGA/-( rs33926666).其中- 921GAGA/-基因型頻率[GAGA/GAGA:138(46.3%)、GAGA/-:155(52.0%)、-/-:5(1.7%)]和等位基因頻率[GAGA:431(73.6%)、-:165(27.7%)]在SAD組和對照組之間差異有統計學意義(基因型:x2=34.130,P =0.000;等位基因型:x2=25.972,P =0.000),- 279G/A經ApoE分型後在不攜帶ApoEε4的亞組中,SAD組與對照組間的差異有統計學意義(基因型:x2=8.734,P=0.013;等位基因型:x2=5.129,P=0.024),- 279G 和- 921GAGA為SAD相對保護性的等位基因,兩者之間不存在連鎖不平衡關繫.結論 ADAM10基因啟動子區-279G/A和- 921GAGA/-多態性與SAD的髮病具有一定的相關性,-279G/G基因型和-921GAGA/GAGA基因型對SAD的髮病可能具有一定的保護作用.
목적 탐토거정합단백화금속단백매10(ADAM10)기인계동자구다태성여산발성아이자해묵병( sporadic Alzheimer's disease,SAD)적상관성.방법 채용수궤수자표법추취2000-2007년북경시선무의원화진황도시해항의원문진10례SAD환자급10명건강대조자진행ADAM10기인계동자구측서,침대소발현적3개다태성위점,응용취합매련반응-한제성편단장도다태성적방법대315명건강대조자(대조조)급298례SAD환자(SAD조)진행기인형검측,병진행병례-대조상관성분석.결과 재ADAM10기인계동자구공발현3개다태성위점:- 279G/A( rs653765)、- 630G/T(rs514049)화- 921GAGA/-( rs33926666).기중- 921GAGA/-기인형빈솔[GAGA/GAGA:138(46.3%)、GAGA/-:155(52.0%)、-/-:5(1.7%)]화등위기인빈솔[GAGA:431(73.6%)、-:165(27.7%)]재SAD조화대조조지간차이유통계학의의(기인형:x2=34.130,P =0.000;등위기인형:x2=25.972,P =0.000),- 279G/A경ApoE분형후재불휴대ApoEε4적아조중,SAD조여대조조간적차이유통계학의의(기인형:x2=8.734,P=0.013;등위기인형:x2=5.129,P=0.024),- 279G 화- 921GAGA위SAD상대보호성적등위기인,량자지간불존재련쇄불평형관계.결론 ADAM10기인계동자구-279G/A화- 921GAGA/-다태성여SAD적발병구유일정적상관성,-279G/G기인형화-921GAGA/GAGA기인형대SAD적발병가능구유일정적보호작용.
Objective To investigate the relationship between the polymorphisms of the promoter of a disintegrin and metalloproteinase 10(ADAM10) gene and sporadic Alzheimer's disease (SAD).Methods The promoter of ADAM10 gene in 10 controls and 10 SAD patients was sequenced.Three variations were found,then these variations in 298 SAD patients (SAD group) and 315 healthy controls (control group)were genotyped by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results Three polymorphisms were found in the promoter of ADAM10 gene: -279G/A (rs653765),- 630G/T( rs514049 ) and - 921GAGA/- ( rs33926666 ).For - 921GAGA/-,there were significant differences in genotype ( GAGA/GAGA:138 (46.3% ),GAGA/-:155(52.0%),-/-:5(1.7%))and allele frequencies (GAGA:431 (73.6%),-:165 (27.7%) ) between SAD and control (genotype:x2 =34.130,P =0.000; allele:x2 =25.972,P =0.000). For - 279G/A,there were significant differences in genotype and allele frequencies between SAD and control in the subjects without ApoEε4 allele (genotype:x2 =8.734,P=0.013; allele:x2 =5.129,P=0.024). -279G and -921GAGA were relatively protective allele types for SAD,and they were not in linkage disequilibrium.Conclusion The polymorphisms - 279G/A and - 921GAGA/- of ADAM10 are associated with SAD.Allele G or genotype G/G of -279G/A and the GAGA/GAGA genotype or the GAGA allele of -921GAGA/- might have a protective effect on SAD.