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

Journal of Translational Medicine

Review

Jiaxin Li¹  Peng Guan¹  Desheng Huang²  Cong Li³  Honghua Yu³  Xiaohong Yang³  Lei Liu³  Yu Huang⁴ 

[1] Department of Epidemiology, School of Public Health, China Medical University, Shenyang, Liaoning, China;Department of Mathematics, School of Fundamental Sciences, China Medical University, Shenyang, Liaoning, China;Guangdong Eye Institute, Department of Ophthalmology, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, 510080, Guangzhou, China;Guangdong Eye Institute, Department of Ophthalmology, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, 510080, Guangzhou, China;Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China;

关键词: Causality;    Eye disease;    Instrumental variables;    Mendelian randomization;   

DOI  :  10.1186/s12967-022-03822-9

 received in 2022-04-15, accepted in 2022-12-11,  发布年份 2022

来源: Springer

【 摘 要 】

Ophthalmic 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.

【 授权许可】

CC BY   
© The Author(s) 2022

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