Image copyright Getty Images Image caption Scientists looked at the genes of people with pulmonary arterial hypertension to find out what was causing the condition

Scientists say they have identified genes that cause a deadly heart condition that can only be cured by transplants of the heart or lungs.

Pulmonary arterial hypertension kills 50% of those affected within five years, but little was known about what caused the condition in some people.

Now experts say they have discovered five genes that cause the illness.

The findings could lead to earlier detection of the disease and ultimately new treatments, researchers say.

Pulmonary arterial hypertension (PAH) currently affects around 6,500 people in the UK and causes the arteries carrying blood from the heart to their lungs to stiffen and thicken, ultimately leading to heart failure.

It is often diagnosed in people who have other heart or lung conditions, but it can affect people of any age and in about a fifth of people there is no obvious cause.

The only "cure" is a transplant of the heart and particularly the lungs, but there is a waiting list for organ transplants and the body will often ultimately reject them, particularly in the case of lungs.

For this latest research, published in Nature Communications, scientists carried out the largest ever genetic study of the disease by analysing the genomes - the unique sequence of a person's DNA - of more than 1,000 PAH patients for whom the cause of the illness was unknown.

They found that mutations in five genes were responsible for causing the illness in these people, including in four genes that were not previously known to be involved in the disease.

In people with the condition these genes fail to effectively produce the proteins that are required for the structure, function and regulation of the body's tissues, researchers found.

Nick Morrell, the lead author of the paper and professor at the British Heart Foundation, told BBC News: "Identifying the nature of these new genes and mutations in the new genes tells you what causes the disease.

"It allows you to design and come up with potential new ways of treating the disease because you have really well-grounded knowledge about what's actually causing it in cases where you find these mutations," he explained.

'People should be more aware'

Image caption Wendy Callaghan was diagnosed with the condition five years ago

Wendy Callaghan, from west London, was diagnosed with PAH in 2013 after doctors became concerned about her persistent chest infection.

Her sister died from the condition 27 years ago at the age of 36, and her grandmother also died from a similar heart condition.

Wendy, who participated in the trial, has been told she has the genetic version of the illness and is now waiting to learn if her daughters and grandchildren have inherited the same deadly condition.

The 58-year-old said: "Even children can get it. People should be more aware of it and look out for the signs and persist with it if they think their child is not well.

"Especially as it does run in families, some people if they don't know they've got it could be passing those genes on to the next generation," Wendy added.

The research was part of a pilot study for the 100,000 Genomes Project - a huge initiative focused on understanding the genetics of cancer and rare diseases.

Prof Morrell said such genetic studies were helping to transform our understanding of rare diseases.

He said: "Often people with rare diseases go to lots of different specialists, everybody is scratching their head a bit, we don't know what the cause is, therefore it's hard to find a treatment for it.

"Now being able to [genetically] sequence people with rare diseases at scale allows you to push the genetics into the clinic and into the families, and it also gives you a cause for the disease which you can potentially do something about," he said.

Darren Griffin, professor of genetics at the University of Kent, who was not involved in the study, said the research was "one of the big successes" of the 100,000 Genome Project.

He said: "By studying the role of rare genetic variation in diseases, we come to a better understanding of the disease pathology itself, which can aid in early diagnosis and in tailoring treatment regimes."

Follow Alex on Twitter.</s>Scientists have finally figured out how people of European descent have such varied hair colors.

In a paper published today (paywall), April 16, in the journal Nature Genetics, researchers identified 124 areas of DNA that control for hair color, using a dataset of nearly 300,000 individuals. They believe their work may one day play a role in treatment for various pigment disorders.

The team worked with 23andMe, an at-home genetic testing company, and UK Biobank, a non-profit that conducts long-term epidemiological research on over 500,000 individuals who have donated their genetic information. For simplicity’s sake, the researchers looked only at the DNA from people of European ancestry with black, blonde, dark-brown, light-brown, or red hair.

Previously, scientists had found 13 genes that appeared to play a role in making melanin, the chemical that gives color to our skin, eyes, and hair. With this more robust dataset, researchers were able to identify over 100 genes that seem to play a role in hair pigmentation. Using these genes, they were able to predict in most cases whether people had black or red hair. It was harder to tell which genes corresponded with brown or blonde hair. (Though because one of the genes associated with fair hair appears on the X chromosome, women may be more likely to be blonde than men.)

There still isn’t anything like a true “blonde gene” or “brunette gene.” That’s because in the case of hair color (and many other traits) there are a number of genes responsible that interact in complex ways. Genes work by coding for different proteins, which help carry out all our biologic functions and dictate whether we have certain traits. Most often, in addition to coding for proteins, they’re busy acting like a dial for other genes nearby, telling them how much protein to make. It can be difficult to tell why they are set at either high or low settings, since it could have to do with interactions with other genes, or environmental settings, or some combination. This complexity is the reason that some traits, like hair color, can be so varied even within genetically similar populations.

What does hair color have to do with disease? Any given protein we produce can be used in hundreds of different biological processes. In this case, the researchers think that some of the genes they found to be associated with hair pigmentation may also be connected with certain conditions, like Crohn’s disease and certain types of skin cancer.

Because this work was focused specifically on European dependents, it only covers a fraction of the genetic variety of hair. Future work broadening the genetic lens to include Asian, Middle Eastern, African, and Native American descendants may lead to more discoveries about connections between genes involved in pigmentation and health conditions. That could be years away, however, as there are still major gaps in the genetic data used for scientific research, with far too little DNA samples from people of color compared to those from white people of European descent.

Read this next: 23andMe has a problem when it comes to ancestry reports for people of color</s>Nearly 80 genes that could be linked to depression have been identified, a finding that adds to the evidence that it is partly a genetic disorder, say scientists.

Depression, a common mental disorder, is the leading cause of ill health and disability worldwide.

 According to the latest estimates from the World Health Organisation (WHO), more than 300 million people are now living with depression, an increase of more than 18 per cent between 2005 and 2015.

“This study identifies genes that potentially increase our risk of depression, adding to the evidence that it is partly a genetic disorder,” said lead author David Howard, research fellow at the University of Edinburgh.

Some of the pinpointed genes are known to be involved in the function of synapses, tiny connectors that allow brain cells to communicate with each other through electrical and chemical signals, the researchers said.

The study could help explain why some people may be at a higher risk of developing the condition as well as help researchers develop drugs to tackle mental health conditions.

“The findings also provide new clues to the causes of depression and we hope it will narrow down the search for therapies that could help people living with the condition,” Howard added.

For the study, published in Nature Communications, the team scanned the genetic code of 300,000 people to identify areas of DNA that could be linked to depression.

The WHO has identified strong links between depression and substance use disorders and diabetes and heart disease.

Depression is also an important risk factor for suicide, which claims hundreds of thousands of lives each year.

Read: This is what happens to your brain if you suffer from depression

Lack of support for people with mental disorders, coupled with a fear of stigma, prevent many from accessing the treatment they need to live healthy, productive lives.</s>An analysis of the DNA of 300,000 people in the UK - the biggest of its kind - identified almost 80 genes that could be involved in the devastating condition. The mental illness blights the lives of sufferers and their families. It is second-leading cause of death among 15 to 29 year-olds. Although environmental factors play a role in many cases of depression genetics are also known to be crucially important. Lead author Dr David Howard, of Edinburgh University's Centre for Clinical Brain Sciences, said drugs that target the genes could improve mental health.

He said: "This study identifies genes that potentially increase our risk of depression - adding to the evidence it is partly a genetic disorder. "The findings also provide new clues to the causes of depression and we hope it will narrow down the search for therapies that could help people living with the condition." Depression can be crippling - impairing the ability to sleep, work or even eat. Antidepressants can often takes weeks or months to kick-inDr Howard's team used data from the UK Biobank - which contains health information on half a million people - to scan participants' genetic code for areas of DNA connected to depression. Such scans are popular for finding genes that affect risk of diseases - but depression has proven largely resistant to this approach. Only a handful of potential ones have previously been identified.

Dr Howard and colleagues confirmed the findings by examining anonymised data held by the personal genetics and research company 23andMe - used with the donors' consent. The study, published in the journal Nature Communications, sheds light on why some people may be at higher risk of a disorder that affects one in five people in the UK every year. It is the leading cause of disability globally. Life events - such as trauma or stress - can contribute to its onset but it's not clear why certain individuals are more vulnerable. Some of the pinpointed genes are involved in the function of synapses - tiny connections between brain cells that enable communication through electrical and chemical signals. Prof Andrew McIntosh, who leads the lab's research group, said: "Depression is a common and often severe condition that affects millions of people worldwide.

"These new findings help us better understand the causes of depression and show how the UK Biobank study and big data research has helped advance mental health research. "We hope the UK's growing health data research capacity will help us to make major advances in our understanding of depression in coming years." The study was funded by the Wellcome Trust as part of Stratifying Resilience and Depression Longitudinally - a £4.7 million project to better understand the condition. Last year a much smaller study of almost 2,000 people suggested depression could be caused by a single mutation. The Dutch and Russian team found the NKPD1 gene accounted for a 4 per cent rise in the risk of experiencing symptoms of worthlessness, a lack of concentration and fatigue.</s>MONDAY, April 16, 2018 (HealthDay News) -- The color of your hair turns out to be a complicated thing, with a full 124 genes determining whether you wind up a blonde, brunette or redhead.

The researchers who pinpointed the origins of hair hue said their findings could improve understanding of health conditions linked to pigmentation, including skin, testicular, prostate and ovarian cancers.

For the study, investigators analyzed DNA data from nearly 300,000 people of European descent, along with information about their hair color. Using this information, the team identified 124 genes that play a major role in determining hair color. Of those genes, more than 100 were not previously known to influence pigmentation.

"This work will impact several fields of biology and medicine. As the largest ever genetic study on pigmentation, it will improve our understanding of diseases like melanoma, an aggressive form of skin cancer," said study co-lead author Tim Spector, a professor at King's College London.

"The genes that affect hair color also affect other cancer types, while other pigment genes affect the chances of having Crohn's and other forms of bowel disease," he added in a university news release.

"Our work helps us to understand what causes human diversity in appearance by showing how genes involved in pigmentation subtly adapted to external environments and even social interactions during our evolution," Spector said.

"We found that women have significantly fairer hair than men, which reflects how important cultural practices and sexual preferences are in shaping our genes and biology," Spector added.

Co-lead author Manfred Kayser, a professor at Erasmus MC University Medical Center in Rotterdam, the Netherlands, said the finding could have yet another application.

"Besides substantially increasing our understanding of human pigmentation genetics in general, finding these new hair color genes is also important for further increasing the accuracy of hair color prediction from DNA traces in future forensic applications, which can help to find unknown perpetrators of crime," Kayser said.

The study was published April 16 in the journal Nature Genetics.

The U.S. National Human Genome Research Institute has more on DNA, genes and genomes.</s>Forensic scientists are a step closer to predicting the colour of a suspect’s hair from their DNA alone after the discovery of more than 100 new genes that influence the shade of a person’s locks.

A test based on the new genetic markers was 10-20% more accurate than existing forensic tests and was most reliable for red or black hair, with brown or blond hair proving harder to predict, researchers said.



“If someone leaves blood at a crime scene, you could say from their DNA whether they had black or red hair with about 90% certainty,” said Tim Spector, a lead author on the work at King’s College London.



The colour of a person’s hair is one of the most heritable features of their appearance, with studies on twins suggesting that genetics explains up to 97% of hair colour. Until now scientists have known of only 13 genes that affect where an individual’s hair will lie on the scale from light to dark.



After studying the DNA of nearly 300,000 people, researchers from King’s and Erasmus MC in Rotterdam uncovered 124 genes that contributed to hair colour, either by directly affecting the production and distribution of the natural pigment melanin or through other biological mechanisms, many of which are still unclear.



The fresh haul of hair colour genes explain 35% of red hair, 25% of blond hair and 26% of black hair, according to the study, reported in the journal Nature Genetics. It is likely that hundreds of other genes also affect hair colour in ways that were too subtle for the scientists to detect.



One factor that complicates a forensic test for hair colour is the common tendency for children who are born blond to have their hair turn brown a handful of years later. While that change itself could well be driven by genes, the researchers found none that seemed to explain the effect. “We know that some blond kids become brown but we have no idea why that is,” said Manfred Kayser, a senior author on the paper at Erasmus MC.



Perhaps more intriguing was the discovery of marked differences in hair colour among the men and women who took part in the study. The scientists, who drew on data gathered by the UK BioBank and the US genetics company 23andMe, found that women were 25% more likely to report having blond hair than men, and three times less likely to say they had dark hair. While the scientists cannot rule out that some participants were mistaken about their own hair colour, the numbers are in line with findings from other studies that used optical instruments to measure hair colour. In the past the differences have been attributed to sexual preferences, with women supposedly preferring darker men and men preferring blond women. “If this was going on, it’s hard to prove,” said Kayser.



Beyond casting light on the biology of human hair colour, the research gives scientists fresh insights into genes linked to diseases such as skin cancer. “Pigments are far more than just cosmetic – they are important for the immune system and play a role in many diseases,” said Spector. “Understanding the genetics could lead to new therapies.”
Scientists say that they have identified genes that cause deadly heart condition pulmonary arterial hypertension which kills 50% of those affected within five years.