载脂蛋白E、白细胞介素-1α基因多态性与成都地区阿尔茨海默病的关联分析

Analysis on association between the polymorphisms in apolipoprotein E, interleukin-1α genes and Alzheimer's disease in Chengdu area*

目的 探讨载脂蛋白E(apolipoprotein E,APOE)和白细胞介素 - 1α(interleukin- 1α,IL- 1α)基因多态性与成都地区阿尔茨海默病 (Alzheimer's disease,AD)的关系。方法 用聚合酶链反应 -限制性片段长度多态性技术检测成都地区流行病学调查中诊断为 AD的 114例患者和 113名健康老年人 APOE基因和 IL - 1α基因多态性。结果 中度、重度 AD组含 APOEε4基因型频率 (2 8.6 % )显著高于轻度 AD组 (18.5 % )和正常对照组 (14 .2 % ) ,其中中度、重度 AD组与正常对照组差异有显著性 (OR=2 .4 ,95 % CI:1.1～5 .5 )。将ε4等位基因频率与ε2和ε3等位基因频率之和比较 ,中度、重度 AD组与正常对照组的差异有显著性 (OR=2 .6 ,95 % CI:1.3～ 5 .3)。 AD患者组和正常对照组 IL - 1α基因型和等位基因频率分布相似 ,差异无显著性 (P>0 .0 5 )。结论 APOEε4等位基因与中、重度 AD相关联 ,是中、重度 AD的易感因素。 IL - 1α基因多态性与中国成都地区 AD患者无关联。

Objective To investigate the correlation between the polymorphisms of apolipoprotein E(APOE), the interleukin-1α( IL-1α) genes and the susceptibility to Alzheimer's disease(AD). Methods Association study was performed in 114 AD patients and 113 healthy elderly individuals from Chengdu, China. Polymorphisms of APOE and IL-1α genes were analyzed with polymerase chain reaction-restriction fragment length polymorphism. Results The frequency of APOE ε4-carrying genotype in moderate to severe AD patients (28.6%) was higher than that of mild patients (18.5%) and the controls (14.2%), and the difference between moderate to severe AD group and the control group was significant (OR=2.4, 95%CI:1.1-5.5). The frequency of ε4 was also of significant difference between the group of modereate to severe dementia and the control group (OR=2.6, 95%CI:1.3-5.3). However, no significant difference in distribution of IL-1α polymorphism between AD patients and controls was observed. Conclusion The APOE ε4 allele was associated with moderate to severe AD while no association between the IL-1α gene polymorphism and AD was found.