Larifla Laurent, Beaney Katherine E, Foucan Lydia, Bangou Jacqueline, Michel Carl T, Martino Jean, Velayoudom-Cephise Fritz-Line, Cooper Jackie A, Humphries Steve E
Research Group Clinical Epidemiology and Medicine, ECM/L.A.M.I.A EA 4540, University Hospital of Pointe-à-Pitre, University of Antilles, Guadeloupe, France; Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, University College London, London, United Kingdom; Department of Cardiology, University Hospital of Pointe-à-Pitre, Guadeloupe, France.
Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute of Cardiovascular Sciences, University College London, London, United Kingdom.
Can J Cardiol. 2016 Aug;32(8):978-85. doi: 10.1016/j.cjca.2016.01.004. Epub 2016 Jan 14.
Despite excessive rates of cardiovascular risk factors such as hypertension, diabetes, and obesity, Afro-Caribbeans have lower mortality rates from coronary heart disease (CHD) than do whites. This study evaluated the association of genetic risk markers previously identified in whites and CHD in Afro-Caribbeans.
We studied 537 Afro-Caribbean individuals (178 CHD cases and 359 controls) who were genotyped for 19 CHD-related single-nucleotide polymorphisms (SNPs). A genetic risk score (GRS) incorporating the 19 SNPs was calculated. These participants were compared with 1360 white individuals from the Second Northwick Park Heart Study.
In Afro-Caribbeans, patients with CHD had higher rates of hypertension (78.7% vs 30.1%), hypercholesterolemia (52.8% vs 15.0%), and diabetes (53.9% vs 14.8%) and were more often men (64.0% vs 43.7%) and smokers (27.5% vs 13.4%) compared with non-CHD controls (all P < 0.001). The GRS was higher in Afro-Caribbeans with CHD than in those without CHD (13.90 vs 13.17; P < 0.001) and was significantly associated with CHD after adjustment for cardiovascular risk factors, with an odds ratio of 1.40 (95% confidence interval, 1.09-1.80) per standard deviation change. There were significant differences in allelic distributions between the 2 ethnic groups for 14 of the 19 SNPs. The GRS was substantially lower in Afro-Caribbean controls compared with white controls (13.17 vs 16.59; P < 0.001).
This study demonstrates that a multilocus GRS composed of 19 SNPs associated with CHD in whites is a strong predictor of the disease in Afro-Caribbeans. The differences in CHD occurrence between Afro-Caribbeans and whites might be a result of significant discrepancies in common gene variant distribution.
尽管非洲加勒比裔人群中高血压、糖尿病和肥胖等心血管危险因素的发生率过高，但他们的冠心病（CHD）死亡率低于白人。本研究评估了先前在白人中确定的遗传风险标志物与非洲加勒比裔人群冠心病之间的关联。
我们研究了537名非洲加勒比裔个体（178例冠心病患者和359名对照），对其进行了19个与冠心病相关的单核苷酸多态性（SNP）基因分型。计算了包含这19个SNP的遗传风险评分（GRS）。将这些参与者与来自第二次诺斯威克公园心脏研究的1360名白人个体进行比较。
在非洲加勒比裔人群中，与非冠心病对照相比，冠心病患者的高血压发生率更高（78.7%对30.1%）、高胆固醇血症发生率更高（52.8%对15.0%）、糖尿病发生率更高（53.9%对14.8%），男性比例更高（64.0%对43.7%），吸烟者比例更高（27.5%对13.4%）（所有P<0.001）。患有冠心病的非洲加勒比裔人群的GRS高于未患冠心病的人群（13.90对13.17；P<0.001），在调整心血管危险因素后，GRS与冠心病显著相关，每标准差变化的比值比为1.40（95%置信区间，1.09-1.80）。19个SNP中的14个在两个种族群体之间的等位基因分布存在显著差异。与白人对照相比，非洲加勒比裔对照的GRS显著更低（13.17对16.59；P<0.001）。
本研究表明，由19个与白人冠心病相关的SNP组成的多位点GRS是非洲加勒比裔人群中冠心病的有力预测指标。非洲加勒比裔人群和白人之间冠心病发生率的差异可能是常见基因变异分布存在显著差异的结果。
Zotero 插件