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김도균 (Dokyoon Kim) 저자 이메일 보기
Geisinger Health System, 현 University of Pennsylvania
조회 1845  인쇄하기 주소복사 트위터 공유 페이스북 공유 
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals
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Phenome-wide association studies (PheWASs) have been a useful tool for testing associations between genetic variations and multiple complex traits or diagnoses. Linking PheWAS-based associations between phenotypes and a variant or a genomic region into a network provides a new way to investigate cross-phenotype associations, and it might broaden the understanding of genetic architecture that exists between diagnoses, genes, and pleiotropy. We created a network of associations from one of the largest PheWASs on electronic health record (EHR)-derived phenotypes across 38,682 unrelated samples from the Geisinger’s biobank; the samples were genotyped through the DiscovEHR project. We computed associations between 632,574 common variants and 541 diagnosis codes. Using these associations, we constructed a “disease-disease” network (DDN) wherein pairs of diseases were connected on the basis of shared associations with a given genetic variant. The DDN provides a landscape of intra-connections within the same disease classes, as well as inter-connections across disease classes. We identified clusters of diseases with known biological connections, such as autoimmune disorders (type 1 diabetes, rheumatoid arthritis, and multiple sclerosis) and cardiovascular disorders. Previously unreported relationships between multiple diseases were identified on the basis of genetic associations as well. The network approach applied in this study can be used to uncover interactions between diseases as a result of their shared, potentially pleiotropic SNPs. Additionally, this approach might advance clinical research and even clinical practice by accelerating our understanding of disease mechanisms on the basis of similar underlying genetic associations.

Keywords: PheWAS, EHR-based population study, human disease network, electronic health record, DiscovEHR study

- 형식: Research article
- 게재일: 2019년 01월 (BRIC 등록일 2019-01-07)
- 연구진: 국외연구진
- 분야: Genetics
골수 줄기세포에서 전환분화한 표피세포와 피부 줄기세포의 피부암 및 궤양 발달의 역할과 기작[Nat. Commun.]
발표: 박희준 (Fred Hutchinson Cancer Research Cen...)
일자: 2019년 1월 22일 (화) 오전 10시 (한국시간)
언어: 한국어
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