Geographical Genomics of Human Leukocytes Gene Expression Variation

Genome-wide association studies of transcript abundance in peripheral blood samples or derivative cell lines have demonstrated a preponderance of eSNP effects that, for the most part, involve regulatory polymorphisms in the differentially expressed gene. Several of these highlight associations that contribute to a variety of disease conditions, but the question arises as to how the associations are affected by the environment. Here we address the robustness of eSNP associations to environmental geography and population structure in a comparison of 194 Arab and Amazigh individuals from a city and two villages in southern Morocco. 194 individuals both men and women representing two ethnicities (Arabs and Amazighs) from three geographic locations (Agadir, Boutroch and Ighrem) and two lifestyles (Urban and Rural) were sampled under informed consent. Only healthy individuals aged between 18 and 50 were sampled. RNA from each was hybridized to an Illumina array. No technical replicates were performed in this study.针对外周血样本或衍生细胞系中转录本丰度的全基因组关联研究（Genome-wide Association Studies, GWAS）已证实，表达相关SNP（expression SNP, eSNP）效应广泛存在，且此类效应大多涉及差异表达基因内的调控多态性。此类关联中有多个可参与多种疾病的发生，但环境如何对这类关联产生影响仍有待阐明。本研究以摩洛哥南部1座城市与2座村落中的194名阿拉伯人与Amazigh个体为研究对象，探讨环境地理因素与群体结构对eSNP关联信号稳健性的影响。本研究共纳入194名男女受试者，覆盖2个族群（阿拉伯人与Amazigh）、3个地理区域（阿加迪尔、布特罗奇、伊格勒姆）以及2种生活方式（城市与乡村），所有受试者均签署知情同意书后方接受采样。本研究的采样对象仅为年龄18至50岁的健康个体。提取每位受试者的RNA并在Illumina芯片上完成杂交实验。本研究未设置技术重复样本。