Metabolic Diseases and Genetic Variants

Dear Colleagues,

Metabolic Disease is a set of co-morbidities that collectively increase an individual’s risk of developing cardiovascular disease, stroke, and type 2 diabetes mellitus (T2D). The last decade has witnessed a deluge of Genome-Wide Association Studies (GWAS) that have linked hundreds of genomics with both collective MetS traits and individual metabolic disorders sitting within it. Currently, in the post-GWAS era, the focus has shifted to the characterization of this novel genomics to establish causality and disease relevance. This is being pursued through functional validation such as gain- and loss-of-function studies, investigating resulting metabolic phenotypes, mechanisms and pathways underlying these phenotypes, their prevalence, and potential for risk stratification across populations, and finally, identification of therapeutic targets for pharmacological intervention.

The major goal of this article collection is to highlight the role of novel genetic variants in the pathophysiology of metabolic diseases sitting within MetS. This collection will include articles in any format, ie. original contributions, and reviews to focus on the following sub-categories of MetS:

• Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH)
• Obesity
• T2D and insulin resistance
• Cardiovascular and cardiometabolic traits

Despite several challenges, GWAS-backed exploration of disease biology has vastly improved our understanding of the genetic basis of human disease. With this article collection, we hope to continue the quest for identifying genetic variants and their role in metabolic diseases, all the way from functional validation to therapeutic potential.

Dr. Rajkumar Dorajoo
Guest Editor

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• genetic variants
• DNA sequencing
• metabolic disease
• whole exome sequencing
• quantitative trait loci
• fine-mapping
• epidemiology
• omics
• T2D
• obesity