Zanetti Daniela, Via Marc, Carreras-Torres Robert, Esteban Esther, Chaabani Hassen, Anaibar Fatima, Harich Nourdin, Habbal Rachida, Ghalim Noreddine, Moral Pedro
Department of Animal Biology-Anthropology, University of Barcelona.
J Epidemiol. 2016 May 5;26(5):264-71. doi: 10.2188/jea.JE20150034. Epub 2016 Jan 16.
In recent years, several genomic regions have been robustly associated with coronary artery disease (CAD) in different genome-wide association studies (GWASs) conducted mainly in people of European descent. These kinds of data are lacking in African populations, even though heart diseases are a major cause of premature death and disability.
Here, 384 single nucleotide polymorphisms (SNPs) in the top four CAD risk regions (1p13, 1q41, 9p21, and 10q11) were genotyped in 274 case-control samples from Morocco and Tunisia, with the aim of analyzing for the first time if the associations found in European populations were transferable to North Africans.
The results indicate that, as in Europe, these four genetic regions are also important for CAD risk in North Africa. However, the individual SNPs associated with CAD in Africa are different from those identified in Europe in most cases (1p13, 1q41, and 9p21). Moreover, the seven risk variants identified in North Africans are efficient in discriminating between cases and controls in North African populations, but not in European populations.
This study indicates a disparity in markers associated to CAD susceptibility between North Africans and Europeans that may be related to population differences in the chromosomal architecture of these risk regions.
近年来，在主要针对欧洲裔人群开展的不同全基因组关联研究（GWAS）中，多个基因组区域与冠状动脉疾病（CAD）存在密切关联。尽管心脏病是非洲人群过早死亡和残疾的主要原因，但非洲人群缺乏这类数据。
在此，对来自摩洛哥和突尼斯的274例病例对照样本中的前四个CAD风险区域（1p13、1q41、9p21和10q11）的384个单核苷酸多态性（SNP）进行基因分型，目的是首次分析在欧洲人群中发现的关联是否适用于北非人群。
结果表明，与欧洲情况一样，这四个基因区域对北非CAD风险也很重要。然而，在大多数情况下（1p13、1q41和9p21），非洲与CAD相关的个体SNP与在欧洲发现的不同。此外，在北非人群中鉴定出的七个风险变异在区分病例和对照方面有效，但在欧洲人群中无效。
本研究表明，北非人和欧洲人之间与CAD易感性相关的标志物存在差异，这可能与这些风险区域染色体结构的人群差异有关。
