Home Medizin US-Studie deckt 275 Millionen völlig neue genetische Varianten auf

US-Studie deckt 275 Millionen völlig neue genetische Varianten auf

von NFI Redaktion

CHICAGO (Reuters) – A study analyzing the genetic code of a quarter of a million U.S. volunteers found over 275 million entirely new variants that could explain why some groups are more susceptible to diseases than others, researchers reported on Monday.

The comprehensive genome sequencing data from a wide range of Americans aims to address the historical lack of diversity in existing genome datasets by focusing on previously underrepresented groups. The study, funded by the U.S. National Institutes of Health, called „All of Us“ revealed a total of one billion genetic variants.

„Sequencing different populations can lead to new drug targets that are relevant to everyone,“ said Dr. Josh Denny, lead author and executive of the study. „It can also help uncover inequalities that lead to specific treatments for people burdened with higher disease rates or other illnesses.“

While many genetic variants have no impact on health, nearly 4 million of the newly discovered differences in the genetic code are located in areas that may be associated with disease risk, the researchers reported in a series of articles published in Nature and related scientific journals.

„This is huge,“ said Denny. The study aims to eventually collect DNA and other health data from one million people in the hope of better understanding genetic influences on health and diseases.

Nearly 90% of previous genome studies have been conducted on people of European descent, leading to a narrow understanding of disease biology and slowing the development of drugs and prevention strategies effective in different population groups, several NIH department heads wrote in a corresponding commentary.

„It’s obviously a huge gap because the majority of the world’s population is not of European descent,“ said Denny.

Recent studies have already shown how genetic diversity can impact disease risk. Variants of the APOL1 gene, discovered in 2010, are responsible for 70% of the increased risk of chronic kidney disease and dialysis observed in people in the U.S. with sub-Saharan African ancestry.

Similarly, sequencing the genetic codes of 5,000 people of African descent in Dallas led to the discovery of a class of drugs called PCSK9 inhibitors that drastically lower very high levels of low-density lipoprotein (LDL) – the so-called bad cholesterol.

There is still much work to be done to understand how the new genetic variants contribute to different health conditions, but the scientists believe they could be used to refine tools for calculating a person’s disease risk.

(Reporting by Julie Steenhuysen; Editing by Bill Berkrot)

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