SORL1基因多态性与阿尔茨海默病关联分析  

Relationship of SORL1 gene polymorphisms with Alzheimer disease

作　　者：王燕[1] 伍力[1] 余发春[1] 杨杨[1] 李超[1] 伍星[1] 

机构地区：[1]云南省精神病医院老年科,云南昆明650224

出　　处：《临床荟萃》2009年第23期2028-2030,共3页Clinical Focus

摘　　要：目的探讨SORL1基因多态性与阿尔茨海默病(Alzhei mer disease,AD)是否存在关联。方法采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术,检测114例AD患者及111例健康对照者的SORL1基因多态性分布特征。结果AD组SORL1的rs12285364SNP,CT基因型频率显著高于对照组(27.2%vs 16.2%,P<0.05);AD组TT基因型频率显著低于对照组(0 vs 4.5%,P<0.05)。CT基因型与女性AD存在正关联(OR=3.100,95%CI=1.260～7.629),而与男性AD的关联无统计学意义。结论CT基因型可能与AD有关,此种关联主要影响女性。Objective To study the relationship of SORL1 gene polymorphisms with Alzheimer disease（AD）. Methods To examine the SORL1 genotypes and alleles in 114 AD patients and 111 healthy controls with PCR and restriction fragment length poiymorphisms （RFLPs） technique. Results The frequency of CT genotype was significantly higher in AD group than in control group（27.2% vs 16.2%, P 〈0.05）. The frequency of TT genotype was significantly lower in AD group than in control group（0 vs 4.5%, P 〈0. 05）. CT genotype was associated with female AD（ OR = 3. 100,95 % CI = 1. 260--7. 629）. CT genotype was not associated with male AD. Conclusion CT genotype may be associated with female AD.

关 键 词：阿尔茨海默病 基因表达 多态现象 遗传 

分 类 号：R749[医药卫生—神经病学与精神病学]