南方医科大学学报

南方医科大学学报 ›› 2015, Vol. 35 ›› Issue (09): 1325-.

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血管紧张素转化酶基因位点多态性与阿尔茨海默病的相关性

邓锦凤，邓炎尧，李维，奉夏露，俞珠玲，赵艳，侯德仁   

  • 出版日期:2015-09-20 发布日期:2015-09-20

Association between angiotensin-converting enzyme gene polymorphism and
Alzheimer’s disease

  • Online:2015-09-20 Published:2015-09-20

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摘要： 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。

Abstract: 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.