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Scientists find ‘Gene Variant’ that protects people from severe COVID-19

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A new study has discovered a unique DNA mutation seen in people of all ethnicities that protects them from coronavirus infection.

A particular gene variant that protects against severe COVID-19 infection has been identified in an international metastudy headed by Karolinska Institutet researchers. The researchers were able to identify the mutation by examining people of various ancestries, a feat they say emphasizes the need of conducting therapeutic studies that involve people of multiple descents.

The findings were published in Nature Genetics. 

In addition to age and certain underlying conditions, genetics can play a role in whether we are badly impacted by COVID-19 or only have minor symptoms. Previous research on primarily European ancestors indicated that persons who possess a certain piece of DNA have a 20% decreased risk of having a life-threatening COVID-19 infection. This DNA segment codes for immune system genes and is passed down from Neanderthals to around half of the world’s population outside of Africa.

This region of DNA, however, is densely packed with genetic variants, making it difficult to pinpoint the exact protective variant that could be used as a target for medical therapy of severe COVID-19 infection.

In order to find this specific gene variant, researchers in this study sought for people who only had sections of this DNA segment. Because Neanderthal inheritance occurred after the ancient migration out of Africa, the researchers recognized an opportunity to focus on people with African ancestry who lack Neanderthal lineage, and hence the majority of this DNA section. However, a minor portion of this DNA region is shared by individuals of African and European ancestry.

The researchers discovered that people with mostly African heritage had the same level of protection as people with European ancestry, allowing them to target a particular gene variant of relevance.

“The fact that individuals of African descent had the same protection allowed us to identify the unique variant in the DNA that actually protects from COVID-19 infection,” said Jennifer Huffman, the first author of study.

A total of 2,787 hospitalized COVID-19 patients of African ancestry and 130,997 participants in a control group from six cohort studies were included in the research. The protective variant was found in 80% of people of African descent. The results were compared to those of a prior, larger metastudy of people of European ancestry.

The protective gene variant (rs10774671-G), according to the researchers, regulates the length of the protein expressed by the gene OAS1. The longer form of the protein has already been demonstrated to be more effective at breaking down SARS-CoV-2, the virus that causes COVID-19.

“That we are beginning to understand the genetic risk factors in detail is key to developing new drugs against COVID-19,” added co-author Brent Richards.

The COVID-19 pandemic has prompted extensive collaboration among academics from throughout the world, allowing researchers to examine genetic risk factors in a larger number of people than in many previous studies. Despite this, the vast bulk of clinical research is still conducted on people of largely European ancestry.

“This study shows how important it is to include individuals of different ancestries. If we had only studied one group, we would not have been successful in identifying the gene variant in this case,” said the study’s corresponding author Hugo Zeberg.

Source: 10.1038/s41588-021-00996-8

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