摘要
目的 :探讨载脂蛋白E(apoE)外显子 4和增强子元件基因多态性与散发性Alzheimer病 (AD)的关系。方法 :应用聚合酶链反应 -限制性片段长度多态性 (PCR -RFLP)技术分别检测apoE外显子 4和内含子 1内增强子元件 (IE1)基因型。结果 :(1)ApoE外显子 4基因多态性 :AD组ε3/ 4基因型频率 (0 381)和ε4等位基因频率 (0 2 2 6 )显著高于对照组 (P <0 0 5 )。 (2 )ApoEIE1基因多态性AD组G/G基因型频率 (0 5 95 )显著高于对照组 (P <0 0 5 )。 (3)有apoEε4个体患AD风险为无ε4个体的 3倍 ,比值比为 2 932 ,95 %可信区间 1 379～ 6 2 2 6 ;G/G基因型个体患AD风险为G/C、C/C个体的 2倍 ,比值比为 2 2 2 3 ,95 %可信区间 1 0 75～ 4 5 99;经统计分析发现apoEε4与IE1G/G呈非常显著性正相关 (P <0 0 1) ;排除apoEε4后发现IE1G/G与AD发病风险无关。结论 :ApoEε4等位基因是个体发生AD的危险因素 。
AIM: To evaluate the association between apolipoprotein E(apoE) gene polymorphism and sporadic Alzheimer's disease (AD). METHOD: A case-control study was undertaken detecting the polymorphism of apoE by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). RESULTS:(1) The frequencies of ε3/4 genotype and ε4 allele in AD were significantly higher than that in age-matched controls( P< 0.05). (2) The frequency of G/G genotype for apoE IE1 in AD was significantly higher than that in age-matched control ( P< 0.05). (3) The apoE ε4 allele was associated with a tripling of the risk for AD compared with no ε4 allele (odd ratio 2.932,95% CI 1.379～6.226);Homozygosity of the G allele in IE1 was associated with a doubling of the risk for AD compared with the G/C and C/C genotypes (odd ratio 2.223,95% CI 1.075～4.599). However, the IE1 G allele is also closely associated with apoE ε4. When the sample was split on the basis of apoE genotype,the association between IE1 G/G genotype and AD was no longer statistically significant. CONCLUSION: ApoE ε4 was a risk factor of AD, and the apparent association between IE1 G/G and AD is a consequence of the association between the ε4 and IE1 G/G genotype.
出处
《中国病理生理杂志》
CAS
CSCD
北大核心
2000年第8期741-743,共3页
Chinese Journal of Pathophysiology
