Thousands of disease-associated SNPs (daSNPs) are located in intergenic regions (IGR),making it difficult to understand their association with disease *** analysis found that non-coding daSNPs were frequently located ...
详细信息
Thousands of disease-associated SNPs (daSNPs) are located in intergenic regions (IGR),making it difficult to understand their association with disease *** analysis found that non-coding daSNPs were frequently located in or approximate to regulatory elements,inspiring us to try to explain the disease phenotypes of IGR daSNPs through nearby regulatory ***,after locating the nearest distal regulatory element (DRE) to a given IGR daSNP,we applied a computational method named INTREPID to predict the target genes regulated by the DRE,and then investigated their functional relevance to the IGR daSNP's disease phenotypes.36.8% of all IGR daSNP-disease phenotype associations investigated were possibly explainable through the predicted target genes,which were enriched with,were functionally relevant to,or consisted of the corresponding disease *** proportion could be further increased to 60.5% if the LD SNPs of daSNPs were also ***,the predicted SNP-target gene pairs were enriched with known eQTL/mQTL SNP-gene ***,it's likely that IGR daSNPs may contribute to disease phenotypes by interfering with the regulatory function of their nearby DREs and causing abnormal expression of disease genes.
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