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Researchers discover hundreds of new genetic variants linked to diabetes

July 23, 2020

The largest study of its kind has demonstrated the power of biobanking, genetics and data analytics to produce new medical insights from enormous pools of patients.

Researchers recently examined the genes of nearly 230,000 people with type-2 diabetes and discovered more than 280 genetic variants never before linked to the disease, according to Penn Medicine. The study also found variants for diseases often related to type-2 diabetes, including coronary heart disease and chronic kidney disease.

No single diabetes variant was deemed the “worst” or “most dangerous,” said co-senior author Benjamin F. Voight, PhD, an associate professor of systems pharmacology and translational therapeutics at Penn. “However, just like heart disease, schizophrenia, or obesity, it is the accumulation of a large number of these variants that can add up to a considerable increase in risk.”

More work to be done

In 2018, 34.2 million Americans, or 10.5% of the population, had diabetes, according to the American Diabetes Association. Researchers hope further work will help doctors predict, prevent, treat the disease, as well as its complications.

“Knowing the genetic susceptibility for diabetes complications in a patient already diagnosed with type-2 diabetes, for example through a cumulative genetic risk score, could help guide that patient’s care,” said co-senior-author Kyong-Mi Chang, MD, a professor of Medicine at Penn.

In addition to the 286 never-discovered variants, researchers found three linked to coronary heart disease, two to acute ischemic stroke, four to retinopathy, two to chronic kidney disease, and one to neuropathy.

Researchers used data from the world’s biggest biobank – the Million Veteran Program (MVP) in the VHA – plus the DIAGRAM Consortium, the UK Biobank, the Penn Medicine Biobank and Biobank Japan. They analyzed a study population of 1.4 million people around the world, of which almost 230,000 people had type-2 diabetes.

Data starts with human biospecimens

Genetic data in biobanks originates from human biospecimens such as a blood or saliva samples. iSpecimen supports this work by using technology to extract and manage compliant, de-identified patient and specimen data directly from medical records and laboratory information systems.

iSpecimen provides researchers with access to a wealth of patient data including:

  • Patient demographics, including age, gender, ethnicity, race and geography.
  • Medical conditions covering a wide variety of diagnoses from oncology and cardiology to autoimmune and infectious diseases, as well as healthy normal.
  • Medications, representing a wide range of medication classes, with outcomes data.
  • And medical procedures covering a wide spectrum of procedures.

Learn about the iSpecimen Marketplace where you can browse millions of richly annotated, de-identified human tissue and biofluid biospecimens, in addition to hematopoietic and immune cell products and COVID-19 samples. You can join for free and creating a login is easy. Request a quote or custom collection today.