Genetic Variations, Triglycerides, and Atherosclerotic Disease

• Published in: Journal of Atherosclerosis and Thrombosis 2019/02/01, Vol.26(2), pp.128-131
• Main Authors: Tada, Hayato, Kawashiri, Masa-aki
• Format: Article
• Language: English
• Subjects: Atherosclerosis; Atherosclerosis - blood; Atherosclerosis - genetics; Atherosclerosis - pathology; Biomarkers - metabolism; Dyslipidemia; Genetic Variation; Genetics; Humans; Hypertriglyceridemia - blood; Hypertriglyceridemia - genetics; Hypertriglyceridemia - pathology; Lipoproteins - genetics; LMF1; Triglycerides; Triglycerides - blood
• ISSN: 1340-3478; 1880-3873; 1880-3873
• DOI: 10.5551/jat.ED102

[See article vol. 26: 136-144] [Understandings from Causal Associations between Biomarkers and Clinical Outcomes] To establish a causal association between a biomarker and an outcome, randomized controlled trials (RCT) are the gold standard. On the other hand, the Mendelian randomization trial is a technique that uses genotypes as instruments to assess causal associations between biomarkers and outcomes. In a Mendelian randomization trial, a genetic variant associated with a particular biomarker is used as a proxy for the biomarker. Outcomes are compared between the group with the effect allele and a group with the reference allele. This approach can be considered a proxy for an RCT, in which the randomized groups have similar confounding variables. Accordingly, a Mendelian randomization trial can be regarded as a natural RCT. Using this technique, a causal association between LDL cholesterol and atherosclerotic diseases have been firmly confirmed. With respect to triglycerides, they have been associated with atherosclerotic diseases in numerous epidemiological studies.