APOE and LDLR Gene Polymorphisms and Dyslipidemia Tracking. Rio de Janeiro Study

Background:Studies show an association between changes in apolipoprotein E (ApoE) and LDLR receptor with the occurrence of dyslipidemia.Objectives:To investigate the association between polymorphisms of the APOE (ε2, ε3, ε4) and LDLR (A370T) genes with the persistence of abnormal serum lipid levels in young individuals followed up for 17 years in the Rio de Janeiro Study.Methods:The study included 56 individuals (35 males) who underwent three assessments at different ages: A1 (mean age 13.30 ± 1.53 years), A2 (22.09 ± 1.91 years) and A3 (31.23 ± 1.99 years). Clinical evaluation with measurement of blood pressure (BP) and body mass index (BMI) was conducted at all three assessments. Measurement of waist circumference (WC) and serum lipids, and analysis of genetic polymorphisms by PCR-RFLP were performed at A2 and A3. Based on dyslipidemia tracking, three groups were established: 0 (no abnormal lipid value at A2 and A3), 1 (up to one abnormal lipid value at A2 or A3) and 2 (one or more abnormal lipid values at A2 and A3).Results:Compared with groups 0 and 1, group 2 presented higher mean values of BP, BMI, WC, LDL-c and TG (p < 0.01) and lower mean values of HDL-c (p = 0.001). Across the assessments, all individuals with APOE genotypes ε2/ε4 and ε4/ε4 maintained at least one abnormal lipid variable, whereas those with genotype ε2/ε3 did not show abnormal values (χ2 = 16.848, p = 0.032). For the LDLR genotypes, there was no significant difference among the groups.Conclusions:APOE gene polymorphisms were associated with dyslipidemia in young individuals followed up longitudinally from childhood.

研究背景：已有研究证实，载脂蛋白E（apolipoprotein E，ApoE）与低密度脂蛋白受体（low-density lipoprotein receptor，LDLR）的变化与血脂异常的发生存在相关性。
研究目的：在里约热内卢队列研究中，针对随访时长达17年的年轻人群，探究APOE（ε2、ε3、ε4）及LDLR（A370T）基因多态性与血清血脂异常持续状态的关联。
研究方法：本研究共纳入56名研究对象（其中男性35名），分别在不同年龄阶段完成3次评估：A1阶段（平均年龄13.30±1.53岁）、A2阶段（平均年龄22.09±1.91岁）及A3阶段（平均年龄31.23±1.99岁）。三次评估均完成血压（BP）与体质量指数（BMI）的临床评估；仅在A2与A3阶段完成腰围（WC）、血清血脂水平检测，并通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析基因多态性。基于血脂异常的追踪结果，将研究对象分为3组：0组（A2与A3阶段均无血脂异常指标）、1组（A2或A3阶段最多存在1项血脂异常指标）、2组（A2与A3阶段存在1项及以上血脂异常指标）。
研究结果：与0组和1组相比，2组的血压、体质量指数、腰围、低密度脂蛋白胆固醇（LDL-c）及甘油三酯（TG）平均水平均更高（P<0.01），高密度脂蛋白胆固醇（HDL-c）平均水平更低（P=0.001）。在各随访阶段中，携带APOE ε2/ε4与ε4/ε4基因型的所有研究对象均至少存在1项血脂异常指标，而携带ε2/ε3基因型的研究对象未出现任何血脂异常指标（χ²=16.848，P=0.032）。针对LDLR基因型而言，各组间未观察到显著统计学差异。
研究结论：在从儿童时期开始纵向随访的年轻人群中，APOE基因多态性与血脂异常存在显著关联。