Home Medizin Kartierung der genomischen Landschaft von Typ-2-Diabetes

Kartierung der genomischen Landschaft von Typ-2-Diabetes

von NFI Redaktion

The largest genome-wide association study on type 2 diabetes to date has located 1,289 genetic markers associated with the disease, 145 of which are newly identified. Researchers generated risk scores for diabetes complications using data from over 2.5 million individuals, including 428,452 with type 2 diabetes.

The groundbreaking study, published in the journal Nature on Monday, February 19th, aimed to improve the understanding of type 2 diabetes heritability. By utilizing cutting-edge computer approaches, scientists identified eight distinct mechanistic clusters of genetic variants associated with the disease, as well as links between these clusters and diabetes complications.

„We’ve attempted to discern some of the mechanisms by which these genetic variants work – and we’ve succeeded.“


Cassandra Spracklen, Co-Senior Author, Assistant Professor of Biostatistics and Epidemiology at the School of Public Health and Health Sciences

The ultimate goal is to identify potential genetic targets for treating or even curing this chronic metabolic disorder, which affects more than 400 million adults worldwide, sometimes resulting in disability, according to the International Diabetes Federation.

„We’ve identified eight clusters of type 2 diabetes-associated variants that are also linked to other diabetes risk factors, such as obesity and hepatic steatosis, pointing to the mechanisms by which these variants could cause diabetes,“ says Spracklen. „We then asked, are these clusters also associated with type 2 diabetes complications? And we found out that several of them are also linked to vascular complications, such as coronary artery disease and end-stage diabetic nephropathy.“

While effective treatment options are available for type 2 diabetes, personalized precision medicine remains limited. For many individuals with this disease, treatment strategies are still based on trial and error. Understanding the disease’s mechanisms better will help predict individual risk for type 2 diabetes and enable earlier intervention.

„We’re trying to understand how diabetes develops,“ says Spracklen, noting that the new research includes data from cohorts not available in a previous genome-wide association study published in Nature Genetics in 2022, on which Spracklen was a co-first author. „And we’re trying to better understand how these genetic variants actually function in biological tissue or at the cellular level, which could ultimately lead to new drug targets and treatments.“

Lead corresponding author Eleftheria Zeggini, Director of the Institute for Translational Genomics at the Helmholtz Center Munich and a professor at the Technical University of Munich, points out that collaboration between scientists is essential for analyzing extensive patient data and achieving a comprehensive understanding of genomic risk variants.

„The genetic information in our cells holds secrets about the risks, progression, and complications of many diseases,“ she says. „Our work leads to a better understanding of the disease-causing biological mechanisms. Better knowledge of the risk of progression of type 2 diabetes complications can help take early interventions to delay or even prevent these debilitating diseases.“

The paper concludes: „Our results…could provide a pathway for optimizing global access to genetically informed diabetes care.“

Source:

University of Massachusetts Amherst

Journal Reference:

Suzuki, K., et al. (2024). Genetic Drivers of Heterogeneity in the Pathophysiology of Type 2 Diabetes. Nature. doi.org/10.1038/s41586-024-07019-6.

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