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Chunk #1 — Background

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Complex nature of SNP genotype effects on gene expression in primary human leucocytes.
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Quantitative transcript expression and genotype relationships can be investigated via linkage or association based methodologies. Linkage studies use a genome wide series of markers in recombinant in-bred lines or families, to follow the heritability of a trait, whilst association studies usually compare large number of single nucleotide polymorphisms (SNPs) to transcript levels from unrelated individuals. Despite its extensive use in plant [11,12], mouse [13,14] and rat [15] models, transcript expression and genotype correlation studies have only recently been performed in humans [3,5,8].