Coto Eliecer, Gómez Juan, Tavira Beatriz, Tranche Salvador, Ortega Francisco, Rodríguez María I, Sánchez Emilio, Marín Rafael, Corao Ana I, Arenas Jorge, Alvarez Victoria
Genética Molecular-Laboratorio Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain ; Fundación Renal and Red de Investigación Renal (REDinREN), Madrid, Spain.
Cardiorenal Med. 2013 Jul;3(2):113-119. doi: 10.1159/000351158. Epub 2013 May 16.
gene variants may contribute to the risk of chronic kidney disease. Our aim was to determine whether the common -ε2/ε3/ε4 polymorphism is associated with a reduced estimated glomerular filtration rate (eGFR) in the RENASTUR population, a cohort of elderly individuals from the region Asturias (northern Spain).
A total of 743 Spanish Caucasians aged 55-85 years were genotyped for the -ε2/ε3/ε4 polymorphism. Individuals with a previous diagnosis of renal disease were not eligible for the study. Participants with a documented history of type 2 diabetes mellitus (T2DM) or hypertension or who were receiving antidiabetic or antihypertensive drugs were classified as diabetics and hypertensives. The eGFR was calculated using the Modification of Diet in Renal Disease formula, and those with an eGFR <60 ml/min/1.73 m (n = 91) were considered as having impaired renal function. The effect of alleles and genotypes on clinical (hypertension, T2DM) and analytical findings was statistically determined.
In addition to age and T2DM, -ε2 was significantly associated with an eGFR <60 ml/min/1.73 m (p = 0.002; OR = 2.30). This association remained statistically significant after correction for multiple variables. Although the effect of the -ε2 allele on the eGFR was observed both among diabetics and nondiabetics, the significance was stronger in the T2DM group.
The -ε2 allele is a genetic risk factor for impaired renal function among healthy elderly Spanish individuals.
基因变异可能会增加患慢性肾病的风险。我们的目的是确定常见的 -ε2/ε3/ε4 多态性是否与来自阿斯图里亚斯地区(西班牙北部)的老年人群体 RENASTUR 队列中估算肾小球滤过率(eGFR)降低有关。
对 743 名年龄在 55 - 85 岁的西班牙白种人进行了 -ε2/ε3/ε4 多态性基因分型。先前诊断为肾病的个体不符合该研究的条件。有 2 型糖尿病(T2DM)或高血压病史记录或正在接受抗糖尿病或抗高血压药物治疗的参与者被分类为糖尿病患者和高血压患者。使用肾病饮食改良公式计算 eGFR,eGFR <60 ml/min/1.73 m²(n = 91)的患者被认为肾功能受损。通过统计学方法确定等位基因和基因型对临床(高血压、T2DM)和分析结果的影响。
除年龄和 T2DM 外,-ε2 与 eGFR <60 ml/min/1.73 m² 显著相关(p = 0.002;OR = 2.30)。在对多个变量进行校正后,这种关联在统计学上仍然显著。尽管在糖尿病患者和非糖尿病患者中均观察到 -ε2 等位基因对 eGFR 的影响,但在 T2DM 组中这种影响更为显著。
-ε2 等位基因是健康西班牙老年个体肾功能受损的遗传危险因素。