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A Window Into the Genetics Behind Diabetes
A new open-access portal includes data from more than 100,000 genetic samples, which can be cross-referenced with criteria such as glucose and...
An international study “unprecedented in both scale and scope” has provided some important answers to the mysteries of how diabetes develops—not least, the answer to a century-old debate about whether genetic differences are shared and common or rare and individual.
Led by researchers from University of Michigan, University of Oxford, Massachusetts Institute of Technology (MIT), Harvard University, and Massachusetts General Hospital, more than 300 scientists from 22 countries used DNA from 120,000 individuals to pinpoint genes and their variants.
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The collaboration brought together 2 research projects: GoT2D and T2D-DENES. The research teams completed whole genome sequencing of more than 2,600 people and exome sequencing of 12,940, as well as genome- or exomewide array genotyping of 111,548 people. Unlike most previous studies, which involved people only of European ancestry, this study included people with ancestral origins in Europe, South and East Asia, the Americas, and Africa.
The researchers were able to highlight “with unprecedented precision” a number of genes directly involved in the development of type 2 diabetes mellitus (T2DM)—promising new avenues for research into treatment or prevention. They also identified more than a dozen genetic regions that harbor variants that influence risk of T2DM. Most were common to all human populations and had previously been detected by other genomewide association studies.
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“While rare variants certainly influence type 2 diabetes risk, our results demonstrate that common variants shared across populations explain most of the genetic risk,” said Michael Boehnke, director of the Center for Statistical Genetics at the University of Michigan School of Public Health and one of the study’s 3 senior authors.
“The conclusions seem clear,” agreed Mark McCarthy, Group Head, Wellcome Trust Centre for Human Genetics. He noted, “[T]he evidence is increasingly stacking up in favor of the view that most of the genetic risk of T2D can be attributed to common alleles that are widely shared within, and between, human populations.”
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“While this large range of genetic risk may challenge our efforts at precision medicine,” said Jason Flannick, co-lead author and senior group leader at the Broad Institute of Harvard and MIT and research associate at the Massachusetts General Hospital, “our consortium also offers a publicly accessible dataset, unprecedented in scope, for researchers around the world to advance our molecular understanding of type 2 diabetes.”