Eur Heart J：常见遗传变异可影响血脂水平和冠心病风险

　　英国学者的一项研究表明，在人群层面，常见脂质相关性单核苷酸多态性（SNP）可对血脂水平、心血管风险、降脂药物应用和冠脉事件风险产生影响，但因程度较小而无法改善鉴别力。论文发表于《欧洲心脏杂志》[Eur Heart J 2013; 34 (13): 972]。

　　此项研究的受试者来自于WHII和BWHHS前瞻性人群。基于多遗传变异影响总胆固醇（TC）、低密度脂蛋白胆固醇（LDL-C）和高密度脂蛋白胆固醇（HDL-C）和甘油三酯（TG）的累积效果，计算各受试者的评分。

　　结果显示，与LDL-C评分为最低五分位的受试者相比，最高五分位者的LDL-C出现升高（WHII 和BWHHS试验人群平均差分别为0.85和0.63mmol/l）。受试者还伴有高危状态（Framingham 10年心血管疾病风险>20%）、接受降脂治疗以及出现冠心病事件的机率亦倾向于升高。在两组人群中可观察到相似的TC相关性。在两组人群中TG评分与高危状态和药物应用均具有相关性。HDL和TG与冠脉事件风险均无相关性。遗传评分未能改善Framingham风险评分的鉴别力。

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Influence of common genetic variation on blood lipid levels, cardiovascular risk, and coronary events in two British prospective cohort studies

Aims 

The aim of this study was to quantify the collective effect of common lipid-associated single nucleotide polymorphisms (SNPs) on blood lipid levels, cardiovascular risk, use of lipid-lowering medication, and risk of coronary heart disease (CHD) events.

Methods and results 

Analysis was performed in two prospective cohorts: Whitehall II (WHII; N = 5059) and the British Women’s Heart and Health Study (BWHHS; N = 3414). For each participant, scores were calculated based on the cumulative effect of multiple genetic variants influencing total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG). Compared with the bottom quintile, individuals in the top quintile of the LDL-C genetic score distribution had higher LDL-C {mean difference of 0.85 [95% confidence interval, (CI) = 0.76–0.94] and 0.63 [95% CI = 0.50–0.76] mmol/l in WHII and BWHHS, respectively}. They also tended to have greater odds of having ‘high-risk’ status (Framingham 10-year cardiovascular disease risk >20%) [WHII: odds ratio (OR) = 1.36 (0.93–1.98), BWHHS: OR = 1.49 (1.14–1.94)]; receiving lipid-lowering treatment [WHII: OR = 2.38 (1.57–3.59), BWHHS: OR = 2.24 (1.52–3.29)]; and CHD events [WHII: OR = 1.43 (1.02–2.00), BWHHS: OR = 1.31 (0.99–1.72)]. Similar associations were observed for the TC score in both studies. The TG score was associated with high-risk status and medication use in both studies. Neither HDL nor TG scores were associated with the risk of coronary events. The genetic scores did not improve discrimination over the Framingham risk score.

Conclusion 

At the population level, common SNPs associated with LDL-C and TC contribute to blood lipid variation, cardiovascular risk, use of lipid-lowering medications and coronary events. However, their effects are too small to discriminate future lipid-lowering medication requirements or coronary events.