Gene behind freckles, brown hair and blue eyes found

November 23, 2013

boards.weddingbee.comWashington, Nov 23: In the study of Icelanders, researchers uncovered an intricate pathway involving the interspersed DNA sequence, or non-coding region, of a gene that is among a few dozen associated with human pigmentation traits.

It is more common to find people with ancestors from geographic locations farther from the equator, such as Iceland, who have less pigment in their skin, hair and eyes.

The researchers, including scientists from the National Human Genome Research Institute (NHGRI), analysed data from a genome-wide association study (GWAS) of 2,230 Icelanders.

A GWAS compares hundreds of thousands of common differences across individuals' DNA to see if any of those variants are associated with a known trait.

"This study explains a complex molecular pathway that may also contribute insights into skin diseases, such as melanoma, which is caused by the interaction of genetic susceptibility with environmental factors," said NHGRI Scientific Director Dan Kastner.

Researchers focused on the interferon regulatory factor 4 (IRF4) gene, previously associated with immunity. IRF4 makes a protein that spurs production of interferons, proteins that fight off viruses or harmful bacteria.

The researchers noted from genomic databases that the IRF4 gene is expressed at high levels only in lymphocytes, a type of white blood cell important in the immune system, and in melanocytes, specialized skin cells that make the pigment melanin. The new study established an association between the IRF4 gene and the pigmentation trait.

"Genome-wide association studies are uncovering many genomic variants that are associated with human traits and most of them are found in non-protein-coding regions of the genome," said William Pavan, co-author and senior investigator, Genetic Disease Research Branch, NHGRI.

The Icelandic GWAS yielded millions of variants among individuals in the study. The researchers narrowed their study to 16,280 variants located in the region around the IRF4 gene.

They used an automated fine-mapping process to explore the set of variants in IRF4 in 95,085 people from Iceland. The data revealed that a variant in a non-coding, enhancer region that regulates the IRF4 gene is associated with the combined trait of sunlight sensitivity, brown hair, blue eyes and freckles.

The study was reported in the journal Cell.

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Agencies
February 11,2020

Using smartphone for long hours every day may do you more harm than you can probably think of. Researchers have found that spending a lot of time with the device and on social media may lead to mental distress and suicidality among adolescents.

The findings, published in the journal CMAJ (Canadian Medical Association Journal) contains guidance for physicians, parents and teachers on how to help teenagers manage smartphone and social media use for a healthy balance between sleep, academic work, social activity, interpersonal relationships and online activity.

"Physicians, teachers and families need to work together with youth to decrease possible harmful effects of smartphones and social media on their relationships, sense of self, sleep, academic performance, and emotional well-being," said lead author of the study Elia Abi-Jaoude from Toronto Western Hospital in Canada.

This review of evidence, led by the Hospital for Sick Children (SickKids), focuses on smartphone use and does not consider online gaming.

"For adolescents today, who have not known a world without social media, digital interactions are the norm, and the potential benefits of online access to productive mental health information -- including media literacy, creativity, self-expression, sense of belonging and civic engagement -- as well as low barriers to resources such as crisis lines and Internet-based talking therapies cannot be discounted," the authors wrote.

The researchers recommend that doctors should ask teenagers to reduce social media use rather than eradicate it completely and encourage parents to be part of the conversations.

Parents should discuss appropriate smartphone use with teenagers to determine together how to reduce risks and set boundaries.

A recent poll from the US indicates that 54 per cent of teenagers think they spend too much time on their smartphones and about half said they were cutting back on usage.

"Encouragingly, youth are increasingly recognising the negative impact of social media on their lives and starting to take steps to mitigate it," the authors wrote.

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News Network
February 22,2020

Feb 22: The subjective feeling of well-being experienced by many people with the practice of meditation is associated with specific changes in the brain, according to a study which may lead to better clinical recommendations of the practice.

The study, published in the journal Brain and Cognition, examined the effects of the technique known as Transcendental Meditation (TM), which consists of the silent repetition of a meaningless sound.

In the study, the researchers from the IMT School for Advanced Studies Lucca in Italy, enrolled 34 healthy young volunteers and divided them in two groups.

They said the first group practised TM 40 minutes per day in two sessions of 20 minutes each, one in the morning and the other in the evening.

The second group, the scientists said, did not change its daily routine.

Using questionnaires, they also measured the anxiety and stress levels of all the participants at the beginning of the study, as well as the subjects' ability to manage stressful situations.

According to the researchers, the participants were also subjected to a functional magnetic resonance imaging (fMRI) brain scan, in order to measure the organ's activity at rest, and changes in the excitation among different cerebral areas.

They repeated the tests after three months, at the end of the study.

According to the study, the levels of anxiety and stress perceived by the subjects who followed the meditation program were significantly reduced in comparison with those of the volunteers who did not practice TM.

"Magnetic resonance imaging also shows that the reduction of anxiety levels is associated with specific changes in the connectivity between different cerebral areas, such as precuneus, left parietal lobe and insula, which all have an important role in the modulation of emotions and inner states," said study co-author Giulia Avvenuti from the IMT School for Advanced Studies Lucca.

"In the control group, instead, none of these changes was observed. The fact that Transcendental Meditation has measurable effects on the 'dialogue' between brain structures involved in the modulation of affective states opens new perspectives for the understanding of brain-mind relationships," said Pietro Pietrini, IMT School's Director, and co-author of the study.

"It also extends the results of recent research suggesting that drugs therapies and psychotherapy leverage on the same biological mechanism," Pietrini said.

According to the researchers, even a few months of practice of TM can have positive effects which can be correlated with measurable changes in the brain.

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Agencies
June 23,2020

The record levels of new daily COVID-19 cases are due to the fact that the pandemic is peaking in a number of big countries at the same time and reflect a change in the virus' global activity, the World Health Organisation said.

At a media briefing on Monday, WHO's emergencies chief Dr Michael Ryan said that the numbers are increasing because the epidemic is developing in a number of populous countries at the same time.

Some countries have attributed their increased caseload to more testing, including India and the US But Ryan dismissed that explanation.

We do not believe this is a testing phenomenon, he said, noting that numerous countries have also noted marked increases in hospital admissions and deaths neither of which cannot be explained by increased testing.

There definitely is a shift in that the virus is now very well established, Ryan said. The epidemic is now peaking or moving towards a peak in a number of large countries.

He added the situation was definitely accelerating in a number of countries, including the US and others in South Asia, the Middle East and Africa.

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