【摘要】 目的:探索血清高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)与年龄相关性黄斑变性(age-related macular degeneration,AMD)的关联关系。方法:在全国多所医院收集AMD病例和对照样本,通过眼科检查确诊AMD,收集的资料包括研究对象的一般人口学特征、行为因素、体格检查、抽血测定血清HDL-C水平等,还对血标本进行遗传易感性检测。采用孟德尔随机化方法,以肝酯酶基因(hepatic lipase gene,LIPC)的功能性突变位点rs10468017作为工具变量,分析HDL-C与AMD的关系。结果:研究共纳入545名AMD患者和480名对照。LIPC不同基因型之间,研究对象的年龄、性别、居住地、吸烟、饮酒、饮茶、体质指数的分布差异均无统计学意义(P>0.05),满足作为工具变量的条件。应用传统的回归模型得到,血清HDL-C与AMD关联的OR值为2.00(95%CI:1.41～2.86),孟德尔随机化方法中得到的OR值为7.15(95%CI:0.80～64.13)。结论:与既往研究结果不同,本研究采用孟德尔随机化方法未发现观察性研究中血清HDL-C水平升高与AMD呈正相关的结果。更多还原

【Abstract】 Objective:To explore genetic variants robustly associated with high-density lipoprotein cholesterol(HDL-C) by Mendelian randomization analysis and to examine its causal association with age-related macular degeneration(AMD).Methods: AMD cases and controls were selected from several hospitals nationwide.Their AMD was diagnosed by eye examination,serum HDL-C levels were examined by blood tests,and other informations were also collected including demographic characteristics,high risk behaviors and so on.The genetic loci hepatic lipase gene(LIPC) rs10468017 was used as instrumental variables for HDL-C.Results: The study population contained hospital-based 545 AMD patients and 480 controls.The LIPC genotypes were unrelated to all potentially confounding factors measured in this study.In conventional multivariable analyses,the HDL-C level was positively associated with AMD.The odds ratio was 2.00(95%CI: 1.41-2.86).Instrumental variable analyses(Mendelian randomization approach) showed an increasing odds ratio of HDL-C and AMD,which was 7.15(95%CI: 0.80-64.13).Conclusion: Being different with previous observational analysis,this study did not support the status of increasing serum HDL-C level as a risk factor for AMD by Mendelian randomization analysis.更多还原