Health
275 million new genetic variants found in US study explain why some are more prone to disease than others
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 to disease than others, researchers reported on Monday.
The whole genome sequencing data from a wide range of Americans aims to address the historical lack of diversity in existing genomic datasets by focusing on previously under-represented groups. The U.S. National Institutes of Health-funded “All of Us” study turned up 1 billion genetic variants in total.
“Sequencing diverse populations can lead to new drug targets that are relevant to everyone,” said Dr. Josh Denny, a study author and its chief executive. “It can also help uncover disparities that lead to specific treatments for people that are experiencing higher burdens of disease or different disease.”
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Although 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 tied to disease risk, the researchers reported in a series of papers published in Nature and related journals.
A new study found 275 new genetic variants that could determine why some people get diseases over others. (REUTERS/National Human Genome Research Institute)
“This is huge,” said Denny. The study aims to eventually collect DNA and other health data on 1 million people in hopes of better understanding genetic influences on health and disease.
Nearly 90% of genomic studies to date have been done in people of European ancestry, which has led to a narrow understanding of the biology of diseases and slowed the development of drugs and prevention strategies effective in diverse populations, the leaders of several NIH departments wrote in a related commentary.
“It’s a huge gap, obviously, because most of the world’s population is not of European ancestry,” Denny said.
Recent studies have already shown how genetic diversity can impact disease risk. Variants in the APOL1 gene discovered in 2010 help account for 70% 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.
Health
Common nighttime noise exposure may trigger heart problems, study suggests
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Living near heavy traffic could negatively impact your heart health.
A European study, published in the journal Environmental Research, found that exposure to nighttime road traffic noise is linked to changes in the blood, leading to worsened cholesterol and cardiovascular risks.
The researchers considered data from the U.K. Biobank, Rotterdam Study, and Northern Finland Birth Cohort 1966, including more than 272,000 adults over the age of 30, according to a press release.
Nighttime road noise exposure was estimated at all participants’ homes based on national noise maps. Researchers also took blood samples to measure the participants’ metabolic biomarkers for disease, then mapped the link between nightly noise levels and existence of biomarkers.
Exposure to loud noise was associated with increased concentrations of cholesterol-related biomarkers. (iStock)
The study found that people exposed to louder noise at night — especially sounds above 55 decibels — showed changes in 48 different substances in their blood. Twenty of these associations “remained robust” throughout all cohorts.
Exposure to loud noise was associated with increased concentrations of cholesterol-related biomarkers, especially LDL “bad” cholesterol, IDL (intermediate-density lipoprotein) and unsaturated fatty acids.
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As noise levels increased, starting at around 50 decibels, cholesterol markers rose steadily, the release stated.
The authors concluded that this study “provides evidence that nighttime road traffic noise exposure from 50 dB upward is associated with alterations in blood cholesterol and lipid profiles in adults.”
Researchers noted a link between traffic noise and cardiometabolic disease. (iStock)
Study co-author Yiyan He, doctoral researcher at the University of Oulu in Finland, noted that in this type of research, small effect sizes are expected, and environmental exposures such as traffic noise are “typically modest.”
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“Despite this, we observed statistically robust and consistent associations across many biomarkers, especially those related to LDL and IDL lipoproteins,” she told Fox News Digital.
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“We also identified a clear exposure-response pattern starting at around 50 dB, suggesting that metabolic changes become more evident as noise levels increase.”
This aligns with public health guidance, as the World Health Organization recommends lower nighttime noise limits at around 40 to 45 dB, Yiyan He added.
“This finding may clarify the association between traffic noise and cardiometabolic diseases,” the researchers wrote. (iStock)
“The 55 dB level is often used as an interim benchmark associated with substantial noise annoyance and sleep disturbance,” she said. “In our study, we observed associations not only at 55 dB, but also indications of effects emerging at around 50 dB.”
The strength and consistency of the cholesterol-related associations were surprising, as these changes are usually “subtle.”
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“Instead, we found consistent associations across multiple large European cohorts, which strengthens confidence that the findings may reflect real biological patterns,” Yiyan He went on. “We were also interested to see that effects were minimal below ~50 dB, suggesting a possible threshold-like pattern.”
HEART DISEASE THREAT PROJECTED TO CLIMB SHARPLY FOR KEY DEMOGRAPHIC
The researcher noted that these findings were consistent across genders, education levels and obesity status.
The study was restricted to White Europeans, which posed a limitation. There was also a lack of information on the fasting status in the UK Biobank.
Changes in cholesterol levels were more severe than researchers expected. (iStock)
“Fasting can influence levels of certain metabolites, particularly fatty acids,” Yiyan He said. “However, based on UK Biobank documentation, fewer than 10% of participants were fasting for at least eight hours, and our main findings focused on cholesterol-related biomarkers, which are generally less sensitive to short-term fasting.”
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The researchers also lacked information on bedroom location, indoor noise exposure and time spent at home.
“These factors may introduce non-differential exposure misclassification,” Yiyan He said. “Additionally, noise exposure estimates were based on participants’ temporary residential addresses at the time of blood sampling, without considering the duration of residence.”
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“Many of these limitations would tend to bias results toward the null, so the consistent associations we observed remain noteworthy.”
Experts recommend taking measures to limit traffic noise at night. (iStock)
Based on this latest research, Yiyan He noted that nighttime noise is a “health-relevant exposure,” not just “an annoyance.”
“Our findings suggest that nighttime traffic noise may subtly but consistently affect metabolic health,” she said. “While the changes in cholesterol and lipid levels for any one individual are small, traffic noise affects a very large number of people, which means the potential public health impact could be substantial.”
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The researcher recommends taking measures like improving sound insulation, using noise-reducing strategies and placing bedrooms on the quieter side of the home when possible.
“Because sleep is a key pathway linking noise to health, protecting the nighttime sleep environment is especially important,” she added.
Health
The Best Time To Drink Coffee for Weight Loss and a Faster Metabolism
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Health
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