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Chunk #3 — Introduction

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Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
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It has been established that gene expression levels can be mapped to genomic variation as a quantitative trait in order to detect so-called expression quantitative trait loci (eQTLs) [17]–[19]. Recently, it has been shown that trait-associated SNPs are more likely to be eQTLs [20], making the systematic analysis of eQTLs in the context of a GWAS a promising tool for the discovery of novel disease-causing genes. In addition, eQTLs can have local and distant effects, allowing for the identification of parts of biological networks related to disease. These networks might be the link between several different genetic variants that appear to be associated with a disease in a GWAS [19]. In practical terms, in order to identify eQTLs associated with disease, both genome-wide genotype data as well as genome-wide gene expression levels have to be collected. The focused genetic mapping of gene expression levels has frequently been applied to the fine-mapping of risk loci resulting from GWAS, for example in the study of asthma [21] and Crohn’s disease [22]. Furthermore, genome-wide eQTL analysis has proven fruitful in the study of