白细胞介素1基因型与阿尔茨海默病的相关性研究

目的 探讨白细胞介素1(interleukin-1,IL-1)基因型与阿尔茨海默病 (Alzheimer′s disease,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,对84例AD和139例对照组标本进行IL-1A(-889)和 IL-1B (+3953)基因型分析.结果 AD组中IL-1A(-889)C/C、C/T和T/T基因型的频率分别为72.6%、23.8%和3.6%,对照组中C/C、C/T和T/T基因型的频率分别为84.2%、14.4%和1.4%,AD组和对照组IL-1A(-889)各基因型的频率差异无统计学意义(χ2=4.53,P＞0.05),但AD组IL-1A(-889)T等位基因的分布频率明显高于对照组,频率分别为15.5%(AD组)和8.6%(对照组)(χ2=4.93,P＜0.05).AD组中IL-1B (+3953) C/T基因型和T等位基因的频率分别为16.7%和8.3%,均显著高于对照组6.5%和3.2%(χ2=5.88、5.56,均P＜0.05).结论 IL-1基因型与AD的发生有关,可能是AD的重要危险因素.

Abstract：

Objective To explore the association of interleukin (IL)-1 genotypes with Alzheimer′s disease (AD). Methods Using polymerase chain reaction and restriction fragment length polymorphism, the IL-1A (-889) and IL-1B (+3953) genotypes in 84 cases of AD and 139 controls were detected and analyzed. Results The frequencies of IL-1A(- 889) C/C, C/T and T/T genotypes were 72.6% and 84.2%, 23.8% and 14.4%, 3.6% and 1.4% in AD cases and controls respectively. The genotypes frequencies of IL-1A (-889) C/C, C/T and T/T in AD cases were similar to that of controls (χ2=4.53, P＞0.05), but the frequencies of IL-1A (-889) T allele were significantly higher in AD cases than in controls (15.5% vs. 8.6%, χ2=4.93, P＜0.05). The frequencies of IL-1B (+3953) C/T genotypes and T allele were also significantly higher in AD cases than in controls (16.7% vs. 6.5%, 8.3% vs. 3.2%, χ2=5.88,5.56, both P＜0.05). Conclusions IL-1 genotypes are associated with AD. IL-1 genotypes may play an important role in the development of AD.