Discover the genetic clues of gestational diabetes

A new study led by researchers at the University of Helsinki, along with colleagues at Massachusetts General Hospital and the Broad Institute of Harvard and MIT, provides significant advances in our understanding of the genetics behind diabetes gestational.

Gestational diabetes is a common pregnancy disorder that affects more than 16 million pregnancies worldwide each year, with significant consequences for the health of mothers and their children. It is characterized by high blood sugar levels in pregnant women who did not have diabetes before becoming pregnant.

Although gestational diabetes is a major global health problem, there is remarkably little research into its molecular causes.

The now published study is the largest genome-wide association study in gestational diabetes conducted to date, including more than 12,000 patients and 131,000 control women from the Finnish genomics initiative FinnGen.

This groundbreaking research, published in Natural geneticsnearly tripled the number of known genetic areas associated with gestational diabetes, identifying a total of 13 distinct chromosomal regions linked to the disease.

Using recently developed analysis methods, researchers were able to show that there are two distinct classes of genetic variants linked to gestational diabetes: those that are common to type 2 diabetes and those that are primarily associated with the gestational form of diabetes. diabetes only.

“Our results suggest that gestational diabetes has a unique genetic basis that is partially distinct from type 2 diabetes, challenging previous assumptions about the genetic underpinnings common to both conditions,” explains Dr. Elisabeth Widén of the Institute of Medicine Molecular Research Institute of Finland (FIMM). , University of Helsinki, who led the study.

The study results also provide important insights into potential physiological mechanisms linked to the development of diabetes during pregnancy. These mechanisms involve adaptive changes in the brain, as well as altered insulin sensitivity in the mother. The hypothalamus emerged as a key component, with some of the identified risk genes active in brain cell types known to be important for adaptive responses to maintain blood sugar regulation during pregnancy.

“Biobank-based studies such as FinnGen, with deep and ongoing clinical data, facilitate large-scale studies of many reproductive and women’s health phenotypes for which research funding is sorely lacking,” said Dr. Mark Daly, former director of FIMM and a geneticist at Massachusetts General Hospital and the Broad Institute who jointly supervised the study. “It’s exciting to see this work come to fruition in important, understudied diseases.”

Although the study primarily focused on a Finnish population, the results have broader implications. The majority of risk variants are common, highlighting the potential relevance of these findings to diverse populations at risk for gestational diabetes.

Highlighting a very common pregnancy disorder that has remained understudied for years, this work is of great importance for women’s health in general. Additionally, the results improve the overall understanding of glucose metabolism dysregulation more broadly.

“By providing new data on critical genetic factors and pathways, our study has the potential to transform attitudes and approaches not only toward gestational diabetes research, but also toward research targeting pregnancy-related health outcomes in general, ultimately benefiting the health of mothers and their newborns,” concludes Dr. Widén.