In a new study from the University of Cambridge, researchers found rare genetic variants—carried by one in 3,000 people—that have a larger impact on the risk of developing type 2 diabetes than any previously identified genetic effect.
Type 2 diabetes is thought to be driven in part by inherited genetic factors, but many of these genes are yet unknown.
Previous large-scale studies have depended on efficient ‘array genotyping’ methods to measure genetic variations across the whole genome.
This approach typically does a good job at capturing the common genetic differences between people, though individually these each confer only small increases in diabetes risk.
Recent technical advances have allowed more comprehensive genetic measurement by reading the complete DNA sequences of over 20,000 genes that code for proteins in humans.
Proteins are essential molecules that enable our bodies to function. In particular, this new approach has allowed for the first time a large-scale approach to study the impact of rare genetic variants on several diseases, including type 2 diabetes.
In the study, the team used data from more than 200,000 adults in the UK Biobank study. They identified genetic variants associated with the loss of the Y chromosome.
This is a known biomarker of biological aging that occurs in a small proportion of circulating white blood cells in men and indicates a weakening in the body’s cellular repair systems.
This biomarker has been previously linked to age-related diseases such as type 2 diabetes and cancer.
The team identified rare variants in the gene GIGYF1 that substantially increase susceptibility to loss of the Y chromosome, and also increase an individual’s risk of developing type 2 diabetes six-fold.
In contrast, common variants linked to type 2 diabetes confer much more modest increases in risk, typically much lower than two-fold.
Around 1 in 3,000 individuals carry such a GIGYF1 genetic variant. Their risk of developing type 2 diabetes is around 30%, compared to around 5% in the wider population.
In addition, people who carried these variants had other signs of more widespread aging, including weaker muscle strength and more body fat.
GIGYF1 is thought to control insulin and cell growth factor signaling.
The researchers say their findings identify this as a potential target for future studies to understand the common links between metabolic and cellular aging, and to inform future treatments.
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The study is published in Nature Communications. One author of the study is Dr. John Perry.
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