【摘 要】
:
Thousands of disease-associated SNPs (daSNPs) are located in intergenic regions (IGR),making it difficult to understand their association with disease pheno
【机 构】
:
遗传工程国家重点实验室,遗传与发育协同创新中心,上海200436;生物统计学和计算生物学系,复旦大学生命科学学院,上海200436
【出 处】
:
第七届全国生物信息学与系统生物学学术大会
论文部分内容阅读
Thousands of disease-associated SNPs (daSNPs) are located in intergenic regions (IGR),making it difficult to understand their association with disease phenotypes.Recent 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 sequences.Hence,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 daSNPs 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 genes.This proportion could be further increased to 60.5% if the LD SNPs of daSNPs were also considered.Furthermore,the predicted SNP-target gene pairs were enriched with known eQTL/mQTL SNP-gene relationships.Overall,its 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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