5-羟色胺2A受体基因多态性与阿尔茨海默病的关联分析

The relation between 5-HT_(2A) receptor gene polymorphism and Alzheimer's disease in Chinese

目的探讨中国汉族人群中5-羟色胺（5－HT）2A（5－HT2A）受体基因多态性与阿尔茨海默病（AD）的相互关系。方法应用聚合酶链式反应（PCR）-限制性片段长度多态性（RFLP）方法，在82例AD患者和97名正常老年人中观察了5－HT2A受体基因和载脂蛋白E（ApoE）基因多态性的分布。结果（1）5-HT2A。受体基因多态性与AD之间不存在任何关联（P＞0.05）；（2）在进行ApoE基因分型后，ApoEε4型AD与5－HT2A受体基因各基因型或等位基因均无关联，而非ApoEε4型AD则与A1／A2基因型正相关（OR＝2．72，95％CI：2．10～3．52，P＜0．05），与A1／A1型负相关（OR＝0．36，95％CI：0．32～0．40，P＜0．05）。结论中国汉族人群中5－HT2A受体基因多态性与非ApoEε4型AD相关，表现为A1／A2型频率的升高和A1／A1型频率的降低。

Objective To detect the relation between 5-HT2A receptor gene polymorphism and Alzheimerdisease(AD) in Chinese. Methods The gene polymorpism of 5-HT2A recepto gene and ApoE were genotyped in82 AD cases, 97 controls with PCR methods and RFLP typing. Then the association between 5-HT2A receptor genepolymorphism and AD was analyzed. Results There was no association between AD and any allele or genotype of5-HT2A meceptor gene polymorphism. But when the subjects were split into ApoE ε4 plsitive and ApoE ε4 negativegroups, there was a significantly positive association between non-ApoE ε4 AD and A1/A2 genotype (OR = 2. 72,95% CI: 2. 10 ~ 3. 52, P＜0. 05), or a negative association between non-ApoE ε4 AD and A1/A1 genotype(OR = 0.36, 95% CI: 0.32~0.40, P＜0.05). Conclusions The 5-HT2A receptor gene polymorpsm may beassociated with non-ApoE ε4 AD in Chinese Han population.