The frequency of genetic variants associated with the risk of developing disease varies between groups of people with different ancestries, according to a large US study.
Researchers sequenced the genomes of US volunteers taking part in the wider 'All of US' study, and looked at variants in 73 genes known to be associated with higher risk of conditions including hereditary breast cancer or high cholesterol levels. They found that study participants of European ancestry had the highest frequency of these variants, people with African ancestry had fewer, and those with Latino American ancestry the lowest frequency.
'Differences in pathogenic variant frequency observed between ancestral groups generally indicate biases of the way we have historically obtained data about those variants, but some deviations may be indicative of differences in disease prevalence and warrant further study,' said lead researcher Dr Eric Venner, a clinical geneticist at Baylor College of Medicine, Texas.
Publishing their preliminary findings in Communications Biology, the researchers explained how they gathered electronic health records, surveys and whole-genome sequencing data for more than 98,000 individuals to date.
Datasets used in many whole genome studies, such as the UK Biobank or the Million Veteran Programme, have been composed predominantly of white people. This lack of diversity contributed to less accurate identification of disease-causing genes among people with non-European ancestry.
While the identified differences in the frequency of disease-causing genes could imply that certain diseases are more prevalent in one ancestral group over another, it might also suggest that current genetic tests can more effectively detect disease-causing genes in people from white backgrounds.
'What this is showing us is how much knowledge we're missing for some of these [underrepresented] groups… There probably are reservoirs of variants that cause disease, but we just haven't seen enough of them yet to be able to interpret them,' said Dr Venner.
All of Us is an initiative funded by the US National Institutes of Health that aims to sequence one million genomes from under-represented sections of the USA population. So far, it has enabled researchers to identify more than 275 million genetic variants that had not been previously reported, as published in Nature.
Sources and References
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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
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Genomic data in the All of Us Research Program
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Ancestral groups differ in the frequency of disease-causing genetic variants
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NIH study uncovers 275 million entirely new genetic variants that may explain why some Americans are prone to diseases like cancer and diabetes
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'All of Us' reports half of the genomes it has sequenced are from non-Europeans
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