대한신장학회

Skip Navigation: Skip to contents

KOR
ENG
전체메뉴보기

간행물 검색

현재 페이지 경로

HOME
간행물
간행물 검색

논문분류	춘계학술대회 초록집
제목	Title: Prioritizing treatment targets by integration of genomic variants and tissue specific gene expression pattern
저자	Sek Won Kong
출판정보	2017; 2017(1):
키워드
초록	Transcriptional activity in diseased tissue often suggests causal pathways, pathophysiological changes related to disease activities, and treatment targets. Causal and reactive pathways perturbed in disease, however, are difficult to distinguish. To evaluate the relationship between transcriptional-activity of genes implicated in rare genetic disorders and tissue-related disease phenotypes, we integrated 6,665 tissue-wide transcriptomes with genetic disorder knowledge databases covering 3,397 diseases. Many disease genes were up regulated in affected tissues compared to unaffected ones. This was more pronounced for genes associated with autosomal dominant over recessive disorders and mainly for diseases affecting brain and muscle but not blood. Receiver operating characteristics analysis using relative expression levels within each tissue and across tissues indicated significant associations between elevated expression and phenotypes for most tissues. Associations at extreme expression levels were marked. These results suggest features useful for evaluating the likelihood of specific manifestations in genetic disorders. As such, for the diseases with strong genetic components, genetic variants can be causal associated with disease, and modify clinical courses as well as treatment targets and responses. Using whole exome sequencing (WES) data from a trio and gene expression profiles from diseased tissue biopsy, we illustrate an approach to integrating WES and functional genomic data to prioritize treatment targets.
원문(PDF)	PDF 원문보기

목록

위로가기