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Chunk #30 — Discussion

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Identification of single nucleotide polymorphisms regulating peripheral blood mRNA expression with genome-wide significance: an eQTL study in the Japanese population.
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In summary, we have presented the results on genome-wide investigations of SNPs affecting the expression levels in whole blood. Both cis-acting and trans-acting eQTL SNPs were identified for a total of 107 genes. The eQTL regions were widely distributed upstream, downstream, and within the gene sequence. The findings of this study are valuable if gene expression levels in whole blood are used as biomarkers for disease conditions. Gene expression levels and their connection with disease-associated SNPs may lead to a better understanding of genetic predisposition to disease and may be used to predict disease susceptibility. Further studies are required to clarify how SNPs function in affecting the expression levels in whole blood as well as in other tissues.