CAJ | 학술논문

目的：探讨血管紧张素转化酶（ACE）基因位点多态性与阿尔茨海默病的关系。方法采用病例对照研究方法，选取201例AD患者为AD组，选取年龄及性别相匹配的非AD健康体检者257例为对照组。运用PCR扩增及飞行时间质谱（MALDI-TOF MS）技术分别检测ACE基因的rs4291、rs4309、rs4343位点，然后分析比较AD组和对照组的基因型、等位基因频率以及单体型频率的差异。结果 AD组rs4291位点基因型频率及等位基因型频率与对照组之间差异无统计学意义（P>0.05）；AD组的rs4309位点基因型频率和等位基因型频率与对照组之间差异均有统计学意义，AD组C等位基因频率显著升高（OR=1.917，95%CI=1.431-2.568，P<0.05）；AD组rs4343位点基因型频率与对照组之间差异无统计学意义，但等位基因频率差异有统计学意义，AD组A等位基因频率显著降低（OR=0.714，95%CI=0.532-0.957，P=0.024）；rs4291、rs4309、rs4343位点连锁不平衡性检测结果显示：该三个位点两两之间D'值均大于0.65，单体型分析显示其内部构成ATA、ACA、TCA、TCG、TTG五个单体型，其中ATA单体型可能与AD发病负相关（OR=0.558，95%CI=0.420-0.741，P<0.05）；ACA、TCA单体型可能与AD发病正相关（ACA：OR=4.883，95%CI=2.267-10.518，P<0.05；TCA：OR=2.269，95%CI=1.083-4.754，P<0.05）。结论 ACE基因rs4291位点基因多态性可能与AD的发病无关；ACE基因rs4309、rs4343位点多态性可能与AD的发病相关；ACE基因rs4291/rs4309/rs4343 SNPs位点构成的ATA、ACA、TCA单体型可能与AD的发病相关。
목적：탐토혈관긴장소전화매（ACE）기인위점다태성여아이자해묵병적관계。방법채용병례대조연구방법，선취201례AD환자위AD조，선취년령급성별상필배적비AD건강체검자257례위대조조。운용PCR확증급비행시간질보（MALDI-TOF MS）기술분별검측ACE기인적rs4291、rs4309、rs4343위점，연후분석비교AD조화대조조적기인형、등위기인빈솔이급단체형빈솔적차이。결과 AD조rs4291위점기인형빈솔급등위기인형빈솔여대조조지간차이무통계학의의（P>0.05）；AD조적rs4309위점기인형빈솔화등위기인형빈솔여대조조지간차이균유통계학의의，AD조C등위기인빈솔현저승고（OR=1.917，95%CI=1.431-2.568，P<0.05）；AD조rs4343위점기인형빈솔여대조조지간차이무통계학의의，단등위기인빈솔차이유통계학의의，AD조A등위기인빈솔현저강저（OR=0.714，95%CI=0.532-0.957，P=0.024）；rs4291、rs4309、rs4343위점련쇄불평형성검측결과현시：해삼개위점량량지간D'치균대우0.65，단체형분석현시기내부구성ATA、ACA、TCA、TCG、TTG오개단체형，기중ATA단체형가능여AD발병부상관（OR=0.558，95%CI=0.420-0.741，P<0.05）；ACA、TCA단체형가능여AD발병정상관（ACA：OR=4.883，95%CI=2.267-10.518，P<0.05；TCA：OR=2.269，95%CI=1.083-4.754，P<0.05）。결론 ACE기인rs4291위점기인다태성가능여AD적발병무관；ACE기인rs4309、rs4343위점다태성가능여AD적발병상관；ACE기인rs4291/rs4309/rs4343 SNPs위점구성적ATA、ACA、TCA단체형가능여AD적발병상관。
Objective To determine the association between the polymorphism of angiotensin converting enzyme (ACE) gene and Alzheimer's disease (AD). Methods This case-control study involved 201 AD patients and 257 healthy subjects matched for age and gender as the control group. Polymerase chain reaction amplification and matrix-assisted laser desorption/ionization time of flight mass spectrometry were used to examine the rs4291, rs4309, and rs4343 of ACE gene, and the difference in genotypes, allelotype frequencies and haplotype frequencies were analyzed between the two groups. Results No statistic difference was found in the genotype and allelotype frequencies of rs4291 locus between AD and control groups (P>0.05). A significant difference was found in the genotype and allelotype frequencies of rs4309 between the two groups with a significant increase in the C allelotype frequency in AD group (OR=1.917, 95% CI=1.431-2.568, P<0.05). The difference in the genotype frequency of rs4343 was not significant between the two groups, but the allelotype frequencies differed significantly with a decreased A allelotype frequency in AD group(OR=0.714, 95%CI=0.532-0.957, P=0.024). Analysis of the linkage disequilibrium among the loci of rs4291, rs4309 and rs4343 showed a D’all above 0.65 between one another. Haplotype analysis confirmed the existence of 5 haplotypes, namely ATA, ACA, TCA, TCG and TTG, indicating a negative correlation between haplotype ATA and AD occurrence (OR=0.558, 95% CI=0.420-0.741, P<0.05) and positive correlations of haplotype ACA and TCA with AD occurrence (ACA:OR=4.883, 95%CI=2.267-10.518, P<0.05;TCA:OR=2.269, 95%CI=1.083-4.754, P<0.05). Conclusion The polymorphism of rs4291 may have no relation with the incidence of AD. Polymorphisms of s4309 and rs4343 may be related to AD, and ATA, ACA and TCA haplotypes composed of rs4291/rs4309/rs4343 may be related to AD.