Huge trove of British biodata is unlocking secrets of depression, sexual orientation, and more
When the Manchester-based [UK Biobank (UKB), a huge research project probing the health and genetics of 500,000 British people,] enrolled its first volunteer 13 years ago, some critics wondered whether it would be a waste of time and money. But by now, any skepticism is long gone. "It's now clear that it has been a massive success—largely because the big data they have are being made widely available," says Oxford developmental neuropsychologist Dorothy Bishop, a participant. Other biobanks are bigger or collect equally detailed health data. But the UKB has both large numbers of participants and high-quality clinical information. It "allows us to do research on a scale that we've never been able to do before," says Peter Visscher, a quantitative geneticist at the University of Queensland in Brisbane, Australia.
The crucial ingredient, however, may be open access. Researchers around the world can freely delve into the UKB data and rapidly build on one another's work, resulting in unexpected dividends in diverse fields, such as human evolution. In a crowdsourcing spirit rare in the hypercompetitive world of biomedical research, groups even post tools for using the data without first seeking credit by publishing in a journal.
[...] The most provocative studies have probed for genetic influences on human behavior. One, published in Nature Genetics in July 2018, drew on the UKB and 23andMe to pin down genetic contributions to a person's level of education. Together, 1300 genetic markers accounted for 11% of the variability among individuals, the researchers found. That's comparable to certain environmental influences in the UKB sample, such as family income, which predicted just 7% of the variance in educational attainment among participants; and mother's education level, which predicted 15%. Another study presented at a meeting last fall found four genetic markers that appear to have a strong influence on whether a person has had sex with someone of their own sex at least once [DOI: 10.1126/science.362.6413.385] [DX].
Such studies are raising concerns that genetic tests could be used to screen embryos for desired traits or discriminate against individuals with certain genetic profiles. That would be a misuse of the findings, say the researchers who identified these links. They stress that the probabilities mean little on the individual level.
Genetic data on half a million Brits reveal ongoing evolution and Neanderthal legacy
[A] few years ago, [Janet] Kelso and her colleagues at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, turned to a new tool—the UK Biobank (UKB), a large database that holds genetic and health records for half a million British volunteers. The researchers analyzed data from 112,338 of those Britons—enough that "we could actually look and say: 'We see a Neanderthal version of the gene and we can measure its effect on phenotype in many people—how often they get sunburned, what color their hair is, and what color their eyes are,'" Kelso says. They found Neanderthal variants that boost the odds that a person smokes, is an evening person rather than a morning person, and is prone to sunburn and depression.
[...] For the UKB architects, who designed it for biomedical research, the evolutionary discoveries are an unexpected bonus. "No one was thinking about Neanderthal traits when we designed the protocol," says molecular epidemiologist Rory Collins of the University of Oxford in the United Kingdom, who is principal investigator of the UKB. "The experiment [is] working well beyond people's expectations."
Related: Rare 'Healthy' Smokers Lungs Explained
Study Of Nearly 300,000 People Challenges The 'Obesity Paradox'
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The analysis of more than 50,000 people showed favourable mutations in people's DNA-enhanced lung function and masked the deadly impact of smoking. The Medical Research Council scientists say the findings could lead to new drugs to improve lung function. But not smoking will always be the best option, they say.
Many, but not all, smokers will develop lung disease. But so too will some who have never touched a cigarette in their lives. The researchers analysed the huge amount amount of health and genetic data from volunteers to the UK's Biobank project.
They looked at Chronic Obstructive Pulmonary Disease (COPD) which leads to breathlessness, coughing and repeat chest infections. The condition is thought to affect three million people in the UK and includes diseases such as bronchitis and emphysema. By comparing smokers and non-smokers as well as those with the disease and without they discovered sections of our DNA that reduce the risk of COPD. So smokers with "good genes" had a lower risk of COPD than those with "bad genes".
More after the break...
The idea that it might be possible to be overweight or obese but not at increased risk of heart disease, otherwise known as the "obesity paradox," has been challenged by a study of nearly 300,000 people published in in the European Heart Journal today (Friday).
This latest research shows that the risk of heart and blood vessel problems, such as heart attacks, strokes and high blood pressure, increases as body mass index (BMI) increases beyond a BMI of 22-23 kg/m2. Furthermore, the risk also increases steadily the more fat a person carries around their waist.
[...] Although it is already known that being overweight or obese increases a person's risk of CVD [cardiovascular disease], as well as other diseases such as cancer, there have also been studies that have suggested that, particularly in the elderly, being overweight or even obese might not have any effect on deaths from CVD or other causes, and may even be protective, especially if people maintain a reasonable level of fitness. This is known as the "obesity paradox."
However, the authors of the EHJ study say their results refute these previous, conflicting findings. "Any public misconception of a potential 'protective' effect of fat on heart and stroke risks should be challenged," said Dr Iliodromiti.
She continued: "This is the largest study that provides evidence against the obesity paradox in healthy people. It is possible that the story may be different for those with pre-existing disease because there is evidence that in cancer patients, for instance, being slightly overweight is associated with lower risk, especially as cancer and its treatments can lead to unhealthy weight loss.
[...] The researchers suggest that the previous confusion over the "obesity paradox" may be due to many factors that can confound results of studies. For instance, smoking changes the distribution of fat in the body, smokers may have lower weight as smoking depresses appetites and so BMI tends to be lower. Another reason could be that some people have existing but undiagnosed disease, which can often lower their weight but also makes them more likely to die prematurely.
(Score: 3, Interesting) by Phoenix666 on Sunday January 06 2019, @04:44PM
That's amazing that they have made the data available to anyone. It's less amazing that they want to charge $2500 for it, but at least if you have the money you can download the data set and work with it.
Washington DC delenda est.
(Score: -1, Flamebait) by Anonymous Coward on Sunday January 06 2019, @09:48PM (2 children)
For generations muslims have been mating their cousins and close family. This causes inbreeding. The result is a race of people with a lowe r IQ and more health problems. The practice of breeding with close family needs to stop. Laws are needed to stop specific cases like the father in law raping the bride at the wedding, which now happens so often it is in some areas expected.
Rotherham is the daily experience for a lot of them.
It's time to clean up the gene pool.
(Score: -1, Flamebait) by Anonymous Coward on Sunday January 06 2019, @10:08PM (1 child)
They have also identified a gay gene that should help remove that problem from the gene pool.
(Score: -1, Flamebait) by Anonymous Coward on Sunday January 06 2019, @10:11PM
If you understood genetics, you would know that the gay gene abnormality is self-correcting since two dudes can't have babies.