p22phox基因多态性与迟发性阿尔茨海默病之间的关联研究

ASSOCIATION OF THE P22PHOX POLYMORPHISM C242T WITH RISK OF LATE-ONSET ALZHEIMER'S DISEASE IN A NORTHERN HAN CHINESE POPULATION

目的探讨p22phox C242T基因多态性与汉族人群迟发性阿尔茨海默病(LOAD)的相关性。方法采用病例对照研究方法,选取276例LOAD患者和320例健康老年人作为研究对象,基因型通过PCR-RFLP方法完成,比较不同基因型与LOAD的关系。结果未发现p22phox C242T多态性与LOAD存在相关,但经过ApoEε4进行分层分析,结果显示ApoEε4携带者组CT+TT基因型与等位基因T在LOAD和对照组中的分布存在显著差异(P<0.05),T等位基因的存在使发生LOAD的风险增加了3.301倍(OR=3.301,95%CI=1.225–8.897,P=0.023)。结论 p22phox C242T基因多态性可能与汉族人群ApoEε4携带者的LOAD发病存在相关性。

Abstract ：Objective To investigate potential associations of the p22phox C242T polymorphism with the risk of late-onset AD （LOAD） in a northern Hart Chinese population. Methods Patients with LOAD （N= 276） and 320 control subjects were recruited for the study. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes. Results No significant differences were found be- tween LOAD and p22phox C242T polymorphism, but a significant association was obtained in the geno- type and allele distributions of p22phox C242T between LOAD patients and controls in ApoE ε4 carriers （ P 〈0.05）. The presence of allele T increased the risk of developing LOAD by 3. 301 fold （OR=3. 301, 95%CI： 1. 225-8. 897, P =0. 023） in APOE e4 allele carriers. Conclusion These results suggested that p22phox C242T polymorphism has a possible role in changing the genetic susceptibility to LOAD in ApoE ε4 carriers of this northern Han Chinese population.