Worldwide analysis ‘a major step’ in understanding genetics of Type 2 diabetes

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Findings include 40 genes never reported, from diverse population base.

Researchers say studying genetic traits of large groups of people with Type 2 diabetes has potential to identify and treat those with the disease, according to a new study.

A meta-analysis of 122 genome-wide association studies “is a major step toward the ultimate goal of identifying novel genes and understanding the biology of the disease, which has the potential to help scientists develop new treatments,” the researchers said in a press release.

It is also a milestone in creating “genetic risk scores” to identify people who are more predisposed to develop Type 2 diabetes, regardless of their population background, according to the researchers.

“Our findings matter because we’re moving toward using genetic scores to weigh up a person’s risk of diabetes,” co-author Cassandra Spracklen, PhD, assistant professor of biostatistics and epidemiology in the UMass Amherst School of Public Health and Health Sciences, said in a press release.


The analysis identified 117 genes that are likely to cause type 2 diabetes, with 40 of those not reported before, said co-author Anubha Mahajan, PhD, professor at Oxford University. “That is why we feel this constitutes a major step forward in understanding the biology of this disease,” Mahajan said in the press release.

The researchers, with the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium, compared DNA of almost 181,000 people with Type 2 diabetes with 1.16 million people who did not have the disease.

Genome-wide association studies search the human genome for genetic markers called single nucleotide polymorphisms to look for differences between people with and without a disease. “The technique allows scientists to scientists to zero in on parts of the genome involved in disease risk, which helps pinpoint the genes that cause the disease,” the researchers said.

Historically, the largest genome studies of Type 2 diabetes involved DNA of people of European descent. The DIAMANTE Consortium assembled the world’s most diverse collection of genetic information about Type 2 diabetes, with more than 48 percent of people from East Asian, African, South Asian and Hispanic population groups, the researchers said.

“Because our research has included people from many different parts of the world, we now have a much more complete picture of the ways in which patterns of genetic risk for Type 2 diabetes vary across populations,” study co-author Mark McCarthy, MD, professor at Oxford University, said in the press release.

The study, titled “Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation,” was published May 12 in the journal Nature Genetics.