Research progress in the methodology used in phenome-wide association studies

VernacularTitle:全表型组关联研究方法学研究进展
Author: Fangyuan JIANG ¹ ; Lijuan WANG ; Jing SUN ; Lili YU ; Xuan ZHOU ; Yimin ZHU ; Xue LI
Author Information

1. 浙江大学医学院公共卫生学院大数据健康科学系，杭州　310058
Keywords: Phenome-wide association study; Biomedical big data; Electronic medical records; Pleiotropy
From: Chinese Journal of Epidemiology 2022;43(7):1154-1161
CountryChina
Language:Chinese
Abstract: Phenome-wide association study (PheWAS) is a reverse genetic analysis method to identify the potential phenotypes associated with genetic variations. With the increasing availability of biomedical databases and electronic medical records (EMR), PheWAS has gradually become an effective tool to unveil the relationships between exposure and a broad range of health phenotypes. The unique advantage of this method is that it can simultaneously explore the associations of a specific exposure with a variety of disease outcomes, thus helping to reveal multiple causal relationships and the shared pathogenic mechanisms among diseases. However, PheWAS has limitations, including selecting instrumental variables and the heavy burden of various corrections. In addition, how to interpret the biological mechanisms underlying significant findings is another crucial issue of PheWAS. This review will focus on the methodology and application of PheWAS to provide meaningful suggestions and insights for future studies.