Álvarez-Álvarez Miguel M, Zanetti Daniela, Carreras-Torres Robert, Moral Pedro, Athanasiadis Georgios
Faculty of Biology, Department of Evolutionary Biology, Ecology and Environmental Sciences, Biodiversity Research Institute, University of Barcelona,Barcelona, Spain.
Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
Eur J Hum Genet. 2017 Apr;25(4):472-476. doi: 10.1038/ejhg.2016.200. Epub 2017 Jan 18.
This study tries to find detectable signals of gene flow of Sub-Saharan origin into the Mediterranean in four genomic regions previously associated with coronary artery disease. A total of 366 single-nucleotide polymorphisms were genotyped in 772 individuals from 10 Mediterranean countries. Population structure analyses were performed, in which a noticeable Sub-Saharan component was found in the studied samples. The overall percentage of this Sub-Saharan component presents differences between the two Mediterranean coasts. D-statistics suggest possible Sub-Saharan introgression into one of the studied genomic regions (10q11). We also found differences in linkage disequilibrium patterns between the two Mediterranean coasts, possibly attributable to differential Sub-Saharan admixture. Our results confirm the potentially important role of human demographic history when performing epidemiological studies.
本研究试图在先前与冠状动脉疾病相关的四个基因组区域中寻找撒哈拉以南起源的基因流入地中海的可检测信号。对来自10个地中海国家的772名个体的总共366个单核苷酸多态性进行了基因分型。进行了群体结构分析，在所研究的样本中发现了显著的撒哈拉以南成分。该撒哈拉以南成分的总体百分比在两个地中海沿岸之间存在差异。D统计表明撒哈拉以南基因可能渗入到所研究的一个基因组区域（10q11）。我们还发现两个地中海沿岸之间的连锁不平衡模式存在差异，这可能归因于不同的撒哈拉以南混合情况。我们的结果证实了在进行流行病学研究时人类人口历史的潜在重要作用。
