American research reveals: There are 275 million brand new genetic variants

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In the new study Scientists analyzed the genetics of a quarter of a million American volunteers, and the results revealed more than 275 million completely new genetic variants that could explain why some groups of people are more prone to disease than others. "Live Science".

The goal of collecting whole-genome sequencing data from large numbers of Americans is to try to address the historical lack of diversity in preexisting genomic data sets by focusing on previously underrepresented groups.

The research carried out under the name "All of us", funded by the US National Institutes of Health, revealed a total of one billion genetic variants.

"Sequencing the genomes of different populations can result in new insights that should contribute to the development of drugs relevant to all people," said Dr. Josh Denny, lead author of the study.

He added that this procedure "may also contribute to the discovery of differences that lead to specific ways of treating patients who are more prone to the disease or those who have a more severe form of the disease."

Although numerous genetic variants do not affect the health status of individuals, scientists have determined that nearly four million newly discovered differences in the genetic code can be located in areas that may be associated with the risk of developing the disease.

"This is a huge discovery. "The ultimate goal of the study is to collect DNA and other health data from millions of people in the hope that we can better understand the impact of genetics on health and the development of disease," said Danny.

Almost 90 percent of genomic studies so far have been conducted on people from European countries, resulting in a limited understanding of the biology of the disease and slowing the development of drugs and strategies applied to effectively prevent the development of the disease in different populations, the authors noted. the research.

"Obviously the gap is huge because the majority of the world's population is not of European descent," added Dr Denny.

Recent studies have shown how genetic diversity can affect the risk of developing a disease. For example, variants of the APOL1 gene discovered in 2010 contribute to a 70 percent higher risk of developing chronic kidney disease and the resulting need for dialysis in US residents of sub-Saharan African descent.

Another example, by sequencing the genetic code of 5.000 people of African descent from Dallas, USA, scientists discovered a group of drugs called PCSK9 inhibitors, which significantly reduce very high levels of low-density lipoprotein (LDL), the so-called bad cholesterol.

Scientists say there is still a lot of hard work to be done to understand how the new set of genetic variants contribute to the development of various health conditions, but they are confident they could be used to refine the tools used to calculate risk for developing of illness.


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