NIH study uncovers 275MILLION entirely new genetic variants that may explain why some Americans are prone to diseases like cancer and diabetes


More than 275million entirely new genetic variants have been discovered in people — and some of them could reveal a higher risk of cancer or diabetes.

Researchers led by the National Institute of Health (NIH) in Bethesda, Maryland, revealed the findings after compiling a giant database containing the genomes of 245,000 Americans, around half of whom were from minority backgrounds.

Most of the variants had no effect on health, the researchers said, but nearly 4million were found in genes linked to a higher risk of cancer, diabetes and heart disease — among other conditions.

It is the first tranche of data from the $3.1-billion ‘All of Us’ project, which aims to build one of the largest genetic databases in the world — by compiling genetic and health information on a million Americans.

Some of the variants were spotted on genes linked to cancers and diabetes (stock image)

Some of the variants were spotted on genes linked to cancers and diabetes (stock image)

The current ‘gold standard’ is the UK Biobank, which holds these figures on 500,000 adults — mostly from white backgrounds.

Dr Josh Denny, the lead author of the study, said: ‘Sequencing diverse populations can lead to new drug targets that are relevant to everyone.

‘It can also help uncover disparities that lead to specific treatments for people that are experiencing higher burdens of disease or different disease.’

Previously, nearly 90 percent of participants in genetic studies have been from white backgrounds — according to estimates.

But this project will shift the balance, with about half of its participants set to be from minority backgrounds. 

About 80 percent will also be people who earn a low income, are disabled or are in a ‘historically left out’ group — which also includes Native Americans, Asian Americans and sexual minorities.

Finding new genotypes in minority populations can help to reveal genetic variants that leave some people more at risk from certain diseases — or drive the discovery of new drugs to treat certain conditions like high cholesterol.

The All of Us program was launched in 2018 — and by the end of this week had more than 767,000 adults signed up. It aims to hit 1million by 2026.

Dr Alicia Martin, a population geneticist at Massachusetts General Hospital in Boston, said the project was a ‘huge resource, particularly for African American, Hispanic and Latin American genomes’.

‘That’s massively missing from the vast majority of large-scale biobank resources and genomics consortia,’ she added to Nature.

The latest figures were revealed in a package published by Nature, Communications Biology and Nature Medicine.

The researchers found more than a billion genetic variants overall during the research, of which 275million had not previously been recorded.

Many of these new variants were rare, the researchers said, and could prove harmless — allowing them to rule them out when screening for genes behind certain diseases.

But studies, also published today and using data from the All of Us project, highlighted a number of never-before seen genes that could raise someone’s risk of suffering from certain diseases. 

In one of the papers researching type 2 diabetes, where nearly 40 percent of the participants were from minority backgrounds, researchers found 611 genetic markers that could raise the risk of suffering from the condition — 145 of which had not been previously reported.

They said the new variants could help to ‘inform diabetes care’, particularly for adults from minority backgrounds.

In another of the studies, researchers looked at pathogenic genetic variants — or those that raise the risk of certain diseases such as cancer.

Results revealed people with European ancestry have about 2.3 percent of their genome made up of pathogenic variants, on average, while among those with African ancestry, this dropped to 1.6 percent.

Recent studies have already shown how genetic diversity can impact disease risk. 

Variants in the APOL1 gene discovered in 2010 help account for 70 percent of the increased risk for chronic kidney disease and dialysis seen in people in the U.S. with sub-Saharan African ancestry.

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

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


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