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
Heart disease threat projected to climb sharply for key demographic
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A new report by the American Heart Association (AHA) included some troubling predictions for the future of women’s health.
The forecast, published in the journal Circulation on Wednesday, projected increases in various comorbidities in American females by 2050.
More than 59% of women were predicted to have high blood pressure, up from less than 49% currently.
The review also projected that more than 25% of women will have diabetes, compared to about 15% today, and more than 61% will have obesity, compared to 44% currently.
As a result of these risk factors, the prevalence of cardiovascular disease and stroke is expected to rise to 14.4% from 10.7%.
The prevalence of cardiovascular disease and stroke in women is expected to rise to 14.4% from 10.7% by 2050. (iStock)
Not all trends were negative, as unhealthy cholesterol prevalence is expected to drop to about 22% from more than 42% today, the report stated.
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Dr. Elizabeth Klodas, a cardiologist and founder of Step One Foods in Minnesota, commented on these “jarring findings.”
“The fact that on our current trajectory, cardiometabolic disease is projected to explode in women within one generation should be a huge wake-up call,” she told Fox News Digital.
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“Hypertension, diabetes, obesity — these are all major risk factors for heart disease, and we are already seeing what those risks are driving. Heart disease is the No. 1 killer of women, eclipsing all other causes of death, including breast cancer.”
Cardiovascular disease is the leading cause of death for women in the U.S. and around the world. (iStock)
Klodas warned that heart disease starts early, progresses “stealthily,” and can present “out of the blue in devastating ways.”
The AHA published another study on Thursday revealing one million hospitalizations, showing that heart attack deaths are climbing among adults below the age of 55.
The more alarming finding, according to Klodas, is that young women were found more likely to die after their first heart attack than men of the same age.
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“This is all especially tragic since heart disease is almost entirely preventable,” she said. “The earlier you start, the better.”
Children can show early evidence of plaque deposition in their arteries, which can be reversed through lifestyle changes if “undertaken early enough and aggressively enough,” according to the expert.
Moving more is one part of protecting a healthy heart, according to experts. (iStock)
Klodas suggested that rising heart conditions are associated with traditional risk factors, like smoking, high blood pressure, high cholesterol, diabetes, obesity and a sedentary lifestyle.
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Doctors are also seeing higher rates of preeclampsia, or high blood pressure during pregnancy, as well as gestational diabetes. Klodas noted that these are sex-specific risk factors that don’t typically contribute to complications until after menopause.
The best way to protect a healthy heart is to “do the basics,” Klodas recommended, including the following lifestyle habits.
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Klodas especially emphasized making improvements to diet, as the food people eat affects “every single risk factor that the AHA’s report highlights.”
“High blood pressure, high blood sugar, high cholesterol, excess weight – these are all conditions that are driven in part or in whole by food,” she said. “We eat multiple times every single day, which means what we eat has profound cumulative effects over time.”
“Even a small improvement in dietary intake, when maintained, can have a massive positive impact on health,” a doctor said. (iStock)
“Even a small improvement in dietary intake, when maintained, can have a massive positive impact on health.”
The doctor also recommends changing out a few snacks per day for healthier choices, which has been proven to “yield medication-level cholesterol reductions” in a month.
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“Keep up that small change and, over the course of a year, you could also lose 20 pounds and reduce your sodium intake enough to avoid blood pressure-lowering medications,” Klodas added.
“Women should not view the AHA report as inevitable. We have power over our health destinies. We just need to use it.”
Health
Vanessa Williams, 62, Opens up About Weight Loss and HRT After Menopause
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Health
Common vision issue linked to type of lighting used in Americans’ homes
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Nearsightedness (myopia) is skyrocketing globally, with nearly half of the world’s population expected to be myopic by 2050, according to the World Health Organization.
Heavy use of smartphones and other devices is associated with an 80% higher risk of myopia when combined with excessive computer use, but a new study suggests that dim indoor lighting could also be a factor.
For years, scientists have been puzzled by the different ways myopia is triggered. In lab settings, it can be induced by blurring vision or using different lenses. Conversely, it can be slowed by something as simple as spending time outdoors, research suggests.
Nearsightedness occurs when the eyeball grows too long from front to back, according to the American Optometric Association (AOA). This physical elongation causes light to focus in front of the retina rather than directly on it, making distant objects appear blurry.
The study suggests that myopia isn’t caused by the digital devices themselves, but by the low-light environments where they are typically used. (iStock)
Researchers at the State University of New York (SUNY) College of Optometry identified a potential specific trigger for this growth. When someone looks at a phone or a book up close, the pupil naturally constricts.
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“In bright outdoor light, the pupil constricts to protect the eye while still allowing ample light to reach the retina,” Urusha Maharjan, a SUNY Optometry doctoral student who conducted the study, said in a press release.
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“When people focus on close objects indoors, such as phones, tablets or books, the pupil can also constrict — not because of brightness, but to sharpen the image,” she went on. “In dim lighting, this combination may significantly reduce retinal illumination.”
High-intensity natural light prevents myopia because it provides enough retinal stimulation to override the “stop growing” signal, even when pupils are constricted. (iStock)
The hypothesis suggests that when the retina is deprived of light during extended close-up work, it sends a signal for the eye to grow.
In a dim environment, the narrowed pupil allows so little light through that the retinal activity isn’t strong enough to signal the eye to stop growing, the researchers found.
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In contrast, being outdoors provides light levels much brighter than indoors. This ensures that even when the pupil narrows to focus on a nearby object, the retina still receives a strong signal, maintaining healthy eye development.
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The team noted some limitations of the study, including the small subject group and the inability to directly measure internal lens changes, as the bright backgrounds used to mimic the outdoors made pupils too small for standard equipment.
Researchers believe that increasing indoor brightness during close-up work could be a simple, testable way to slow the global nearsightedness epidemic. (iStock)
“This is not a final answer,” Jose-Manuel Alonso, MD, PhD, SUNY distinguished professor and senior author of the study, said in the release.
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“But the study offers a testable hypothesis that reframes how visual habits, lighting and eye focusing interact.”
The study was published in the journal Cell Reports.
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