摘要
背景:在全基因组关联研究中,约有40种独立的单核苷酸多态性(SNP)与阿尔茨海默氏病(AD)或认知能力下降有关。 目的:我们旨在评估遗传多态性和环境因素对华人社区人群从轻度认知障碍(MCI)到AD(MCI-AD进展)的联合作用。 方法:人口统计学,DNA和AD的事件诊断数据来自316名MCI参与者在上海老龄研究的随访。使用Kaplan-Meier方法,对数秩检验和Cox回归模型评估了40个SNP和环境预测因子与MCI-AD进展的关联。 结果:ATP结合盒家族A成员7(ABCA7)的Rs4147929(AG / AA与GG,危险比[HR] = 2.43,95%置信区间[CI] 1.24-4.76)和体重指数(BMI)(超重与非超重,HR = 0.41,95%CI 0.22-0.78)是MCI-AD进展的独立预测因子。在综合分析中,合并了非超重BMI和ABCA7 rs4147929(AG / AA)风险基因型的MCI参与者的MCI-AD进展风险比具有超重BMI和无风险的参与者高大约6倍。基因型(HR = 6.77,95%CI 2.60-17.63)。但是,当参与者仅携带这两个危险因素之一(ABCA7 rs4147929的非超重BMI和AG / AA)时,发现结果不显着。 结论:ABCA7 rs4147929和BMI共同影响MCI-AD进程。对于具有rs4147929风险基因型的MCI参与者,就其发生AD的风险而言,保持超重BMI水平可能会受益。
关键词: 轻度认知障碍,疾病进展,阿尔茨海默氏病,ABCA7,体重指数,危险因素。
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