Phenome-wide assiciation study

GWAS로 특정 형질과 관련된 변이를 알 수 있다. 어떤 변이는 다수의 형질과 관련되어 있는데, 이를 다면발현(pleiotropy)라고 한다 (See also Antagonistic pleiotropy hypothesis). 다음의 예가 있다.

• Variants at 9p21.3, which were associated initially with early Myocardial infarction and subsequently with Intracranial aneurysm and Abdominal aortic aneurysms.
• variants in the HLA region and IL23R, which were associated initially with Inflammatory bowel disease and subsequently with a variety of other Autoimmune diseases.
• PTPN22 R602W, which was associated initially with lower risk of Crohn’s disease and subsequently with a higher risk of Rheumatoid arthritis and other Autoimmune diseases.

형질관련 유전변이 위치별로 유의도를 보는 GWAS와 유사하게 특별한 유전변이를 여러 형질에 대해 확인하는 방법을 PheWAS라고 한다. 보통 EMR의 ICD9 전체 표현형을 여러 형질로 한다.

One of the Genotype and phenotype 연관 분석

관련정보

• PheWAS Catalog

관련논문

• Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data Nature Biotechnology 2013-11-24
• PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations Bioinformatics 2010-03-24

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• Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

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• Pleiotropy

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