Research Highlight

Defects in novel genes increase risk of heart disease, diabetes

doi:10.1038/nindia.2019.24 Published online 23 February 2019

The genetic information can be used to develop screening tests and potential therapies for cardiometabolic diseases.

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Biologists have identified genetic variations in novel genes that play vital roles in body-fat distribution, a potential trigger for cardiometabolic diseases1. This knowledge may help develop genetic screening tests and potential therapies for cardiometabolic diseases.  

The waist-to-hip ratio (WHR) reveals the distribution of central body-fat. The lower the values of WHR, the lower are the risks of diseases such as type 2 diabetes. Previous studies had already implicated genes that predispose certain individuals to higher values of WHR and risks of related diseases.

To hunt down these novel genes responsible for body-fat distribution, an international research team, including a scientist from the Indian Institute of Science in Bangalore, assessed body-fat distribution, measured WHR and sequenced genes of individuals.

The researchers zeroed in on 48 genetic variations in the protein-coding regions of 43 genes. They identified 15 common genetic variations, including nine novel genetic variations.

Of the novel genetic variations, they found variations in a gene that is highly expressed in fat tissue in response to diet-induced obesity. This gene has roles in a cascade of events such as inflammation in fat tissue, insulin resistance and diabetes.

One of the variations was identified in a gene that is possibly involved in the growth hormone signalling pathway and lipid metabolism. In the adult fruit fly, the researchers identified that inactivity of the fly counterparts of two specific human genes caused a significant increases in total body triglyceride levels.

The research is a step towards the understanding of obesity and identifying new molecular targets to avert obesity-related disorders.


1. Justice, A. E. et al. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat. Genet. (2019) doi: 10.1038/s41588-018-0334-2