Department of Genetics, North Carolina State University, Raleigh, North Carolina, USA.
Nat Genet. 2010 Jan;42(1):62-7. doi: 10.1038/ng.495. Epub 2009 Dec 6.
Studies of the genetics of gene expression can identify expression SNPs (eSNPs) that explain variation in transcript abundance. 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. Gene expression differed between pairs of locations for up to a third of all transcripts, with notable enrichment of transcripts involved in ribosomal biosynthesis and oxidative phosphorylation. Robust associations were observed in the leukocyte samples: cis eSNPs (P < 10(-08)) were identified for 346 genes, and trans eSNPs (P < 10(-11)) for 10 genes. All of these associations were consistent both across the three sample locations and after controlling for ancestry and relatedness. No evidence of large-effect trans-acting mediators of the pervasive environmental influence was found; instead, genetic and environmental factors acted in a largely additive manner.
对基因表达的遗传学研究可以确定解释转录丰度变化的表达单核苷酸多态性（eSNP）。在这里，我们在摩洛哥南部一个城市和两个村庄的 194 名阿拉伯和柏柏尔个体之间进行了比较，以确定 eSNP 关联对环境地理和群体结构的稳健性。多达三分之一的所有转录本在位置对之间存在表达差异，核糖体生物合成和氧化磷酸化所涉及的转录本明显富集。在白细胞样本中观察到稳健的关联：顺式 eSNP（P < 10(-08)）鉴定了 346 个基因，反式 eSNP（P < 10(-11)）鉴定了 10 个基因。所有这些关联在三个样本位置之间以及在控制了祖先和相关性之后都是一致的。没有发现普遍环境影响的大效应反式作用介体的证据；相反，遗传和环境因素以很大程度上的加性方式起作用。
