DACS-DB: A curation and dissemination model for disease-associated cytokine SNPs (134.19)

Abstract

Abstract Cytokines play valuable roles in immune cell growth and lineage specification, and in various disease pathologies. Both low and high throughput studies have implicated the association of cytokine single nucleotide polymorphisms (SNPs) with diseases. A preponderance of such experiments has not shown any causality of an identified SNP to the associated disease. Instead, they have identified statistically significant SNP-disease associations; it is likely that some of these cytokine gene variants may directly or indirectly cause the disease phenotype(s). To fill this knowledge gap and derive study parameters for SNP-disease causality relationships, we have designed and developed the Disease Associated Cytokine SNP Database (DACS-DB). DACS-DB includes data on 456 cytokine genes (derived from the ImmPort database), 10,000 SNPs (from dbSNP), and 330 SNP-associated diseases (from PubMed). We have manually curated functional annotation, heterozygosity and population frequency for the SNPs, and statistical significance of SNP-disease association for diseases. We are currently developing a front end to publish this data on the WWW for dissemination to immunologists and biomedical researchers. The curated data in the DB is to be employed to build a computational tool to predict the disease association potential of an uncharacterized cytokine SNP. This DB can be vital to understand the role of cytokine SNPs as markers in disease and may help identify drug targets for common diseases.