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Chunk #26 — Discussion

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Genetics of sputum gene expression in chronic obstructive pulmonary disease.
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Prior studies have also used eQTL analyses to identify novel genes for complex traits, including age related decline in kidney function [8] and body mass index [55]. In contrast to our study, these papers first found gene transcripts correlated with the phenotype, then tested SNPs in/near these genes for association with expression levels. We performed the cis-eQTL analysis as the initial step, then tested the eQTL SNPs for phenotype association. This limits multiple testing compared to a GWAS, enriching for eQTL SNPs which may be more likely to be associated with disease [56].