MY MENTOR & I PERSPECTIVE

Mendelian randomization: evaluation of causality between risk factors and outcomes

Gloria Hoi-Yee Li & Ching-Lung Cheung

doi: 10.13140/RG.2.2.15401.83040

May 2020

Mendelian randomization (MR) is a powerful approach that evaluates the causal association between a risk factor and an outcome. It makes use of the random allocation of genetic variants to mimic randomizers in randomized controlled trials (RCTs), providing quality evidence that is less susceptible to unmeasured confounding and reverse causality, when compared to conventional observational studies. Currently, MR has been applied in osteoporosis-related research to begin to unravel the causal risk factors that predispose to low bone mineral density (BMD) and increased susceptibility of fracture. Some MR studies made use of serum level measurement as a surrogate to mimic the role of supplementation, such as vitamin D and calcium, and evaluate the effects of the supplements in bone metabolism. From clinical perspective, MR studies enable identification of diagnostic markers and therapeutic targets. They provide evidence on the efficacy and adverse effects of drugs, contributing to discovery and repurposing of drugs.

Gloria Hoi-Yee Li
Gloria Hoi-Yee, PhD

Gloria Hoi-Yee Li is a post-doctoral fellow in the Department of Pharmacology and Pharmacy, Li Ka Shing Faculty of Medicine, The University of Hong Kong.  Her research interests are in the application of bioinformatics and genetic analyses in deciphering disease pathogenesis. Currently, her research projects focus on Mendelian randomization and epidemiology studies of endocrine disorders.

Ching-Lung Cheung
Ching-Lung Cheung, PhD

Ching-Lung Cheungis an assistant professor in the Department of Pharmacology and Pharmacy, Li Ka Shing Faculty of Medicine, The University of Hong Kong. He is the principal investigator of the cohort study: Hong Kong Osteoporosis Study. His primary research interests are in the epidemiology of osteoporosis and development of precision medicine of osteoporosis.