DNA: 275 million new genetic variants are discovered – 02/24/2024 – Science

A study that analyzed the genetic code of a quarter of a million U.S. volunteers found more than 275 million entirely new variants that may help explain why some groups are more prone than others to certain diseases.

Whole-genome sequencing data from a wide range of Americans aims to address the historic lack of diversity in existing genomic data sets. To do this, it focuses on previously underrepresented groups.

The “All of Us” study, funded by the US NIH (National Institutes of Health), found a total of 1 billion genetic variants.

“Sequencing diverse populations can lead to new drug targets relevant to everyone,” said study author Josh Denny. “It can also help uncover disparities that lead to specific treatments for people who are experiencing higher disease burdens or different 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 related to disease risk, researchers report in a series of papers published in Nature and related journals. .

“That’s huge,” Denny said. The study aims to eventually collect DNA and other health data from 1 million people in hopes of better understanding genetic influences on health and disease.

Nearly 90% of genomic studies to date have been done on people of European ancestry, which has led to a limited understanding of disease biology and slowed the development of effective medicines and prevention strategies in diverse populations, wrote the leaders of several U.S. departments. NIH in a related commentary.

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

Recent studies have already shown how genetic diversity can impact disease risk. Variants in the APOL1 gene discovered in 2010 help explain 70% of the increased risk of chronic kidney disease
and dialysis observed in people in the US with sub-Saharan ancestry.

Similarly, a class of drugs called PCSK9 inhibitors that dramatically reduce very high levels of low-density lipoprotein (LDL) — so-called bad cholesterol — were discovered by sequencing the genetic code of 5,000 people in Dallas of African descent.

Much more work is needed to understand how the new trove of genetic variants contributes to various health conditions, but scientists say they believe they could be used to refine the tools used to calculate a person’s disease risk.