Rao Madhumathi, Jaber Bertrand L, Balakrishnan Vaidyanathapuram S
Division of Nephrology, Department of Medicine, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA.
Semin Dial. 2005 May-Jun;18(3):217-25. doi: 10.1111/j.1525-139X.2005.18316.x.
Cardiovascular disease (CVD) is the most important cause of morbidity and mortality in dialysis patients. The high prevalence of CVD is due to the cumulative effects of multiple risk factors from the early stages of chronic kidney disease (CKD). Familial predispositions to CVD, CKD, and their respective risk factors are well known, and it is likely that genetic factors determine the interindividual variability in risks for disease. Advances in genomic technology have facilitated the study of genetic variation--most commonly single nucleotide polymorphisms (SNPs) in candidate genes--and their associations with disease. This review examines CVD in dialysis patients as a model of a complex disease, discusses the approach to gene polymorphism association studies, including the roles of gene-environment and gene-gene interactions and provides an overview of available studies.
心血管疾病（CVD）是透析患者发病和死亡的最重要原因。CVD的高患病率归因于慢性肾脏病（CKD）早期多种危险因素的累积效应。CVD、CKD及其各自危险因素的家族易感性已为人熟知，遗传因素很可能决定了个体间疾病风险的差异。基因组技术的进步推动了对遗传变异——最常见的是候选基因中的单核苷酸多态性（SNP）——及其与疾病关联的研究。本综述将透析患者的CVD作为一种复杂疾病的模型进行研究，讨论基因多态性关联研究的方法，包括基因-环境和基因-基因相互作用的作用，并概述现有研究。
