Mendelian randomization analyses in ocular disease: a powerful approach to causal inference with human genetic data

Author:

Li Jiaxin,Li Cong,Huang Yu,Guan Peng,Huang Desheng,Yu Honghua,Yang XiaohongORCID,Liu Lei

Abstract

AbstractOphthalmic epidemiology is concerned with the prevalence, distribution and other factors relating to human eye disease. While observational studies cannot avoid confounding factors from interventions, human eye composition and structure are unique, thus, eye disease pathogenesis, which greatly impairs quality of life and visual health, remains to be fully explored. Notwithstanding, inheritance has had a vital role in ophthalmic disease. Mendelian randomization (MR) is an emerging method that uses genetic variations as instrumental variables (IVs) to avoid confounders and reverse causality issues; it reveals causal relationships between exposure and a range of eyes disorders. Thus far, many MR studies have identified potentially causal associations between lifestyles or biological exposures and eye diseases, thus providing opportunities for further mechanistic research, and interventional development. However, MR results/data must be interpreted based on comprehensive evidence, whereas MR applications in ophthalmic epidemiology have some limitations worth exploring. Here, we review key principles, assumptions and MR methods, summarise contemporary evidence from MR studies on eye disease and provide new ideas uncovering aetiology in ophthalmology.

Funder

Science and Technology Program of Guangzhou, China

Project of Special Research on Cardiovascular Diseases

National Natural Science Foundation of China

Outstanding Young Talent Trainee Program of Guangdong Provincial People’s Hospital

), Guangdong Provincial People’s Hospital Scientific Research Funds for Leading Medical Talents and Distinguished Young Scholars in Guangdong Province

Talent Introduction Fund of Guangdong Provincial People’s Hospital

Shenyang Young and Middle-aged Science and Technology Innovation Talent Support Program

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

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