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Chunk #29 — Discussion

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Genetics of sputum gene expression in chronic obstructive pulmonary disease.
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In conclusion, we combined genomewide SNP genotyping with genomewide expression profiling from a relevant tissue in well-characterized subjects with a common chronic disease. Using this strategy, we were able to gain insights into the functional role of SNPs previously associated through GWAS, as well as identify a potential novel disease susceptibility gene which would have been missed using standard GWAS analysis. Previous eQTL studies have provided important information about genetic control of human gene expression. Integrative genomics studies in relevant tissue from well-phenotyped individuals, as we have performed, will be required to apply this knowledge to human disease.