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遗传标志物的临床验证可提高风险评估的准确性。

Clinical validation of genetic markers for improved risk estimation.

机构信息

Universität zu Lübeck, Medizinische Klinik II, Ratzeburger Allee 160, Lübeck, Germany.

出版信息

Eur J Prev Cardiol. 2012 Aug;19(2 Suppl):25-32. doi: 10.1177/2047487312448993.

Abstract

Primary prevention is the most effective strategy for reducing the burden of cardiovascular disease; however, predicting cardiovascular risk in the asymptomatic population lacks precision. Traditional methods of estimating risk are based on the presence of certain risk factors, some of which (e.g. hypertension, dyslipidaemia) are modifiable. Cardiovascular risk is also determined by a plethora of genetic risk factors, and this is partially reflected by a positive family history of cardiovascular disease; however, family history may not always be an accurate indication of genetic cardiovascular risk. Genome-wide association studies have identified numerous genetic variants associated with increased cardiovascular risk and cardiovascular risk factors. The addition of genetic information to conventional risk scores has the potential to increase the discriminative power of the score. Genetic markers may be particularly helpful for predicting life-time risk of cardiovascular disease in younger subjects, which is often underestimated by traditional risk scores. Advances in our understanding of the genetics of cardiovascular risk provide opportunities for improving both the prevention and treatment of cardiovascular disease.

摘要

一级预防是降低心血管疾病负担最有效的策略;然而,在无症状人群中预测心血管风险的准确性仍有所欠缺。传统的风险评估方法基于某些风险因素的存在,其中一些因素(例如高血压、血脂异常)是可以改变的。心血管风险还取决于大量的遗传风险因素,而这在一定程度上反映在心血管疾病的阳性家族史中;然而,家族史并不总是遗传心血管风险的准确指标。全基因组关联研究已经确定了许多与心血管风险增加和心血管风险因素相关的遗传变异。将遗传信息添加到传统风险评分中有可能提高评分的判别能力。遗传标志物对于预测年轻受试者的终生心血管疾病风险可能特别有帮助,而传统风险评分往往低估了这一风险。我们对心血管风险遗传基础的理解的进步为改善心血管疾病的预防和治疗提供了机会。

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