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
June 20,2020

The World Health Organisation has warned that the COVID-19 pandemic is entering a "new and dangerous" phase. Thursday saw the most cases in a single day reported to the WHO.

Tedros Adhanom Ghebreyesus said the day had seen 150,000 new cases with half of those coming from the Americas and large numbers also from the Middle East and South Asia, the BBC reported.

He said the virus was still spreading fast and the pandemic accelerating.

He acknowledged people might be fed up with self-isolating and countries were eager to open their economies but he said that now was a time for extreme vigilance.

Maria van Kerkhove, technical lead of the WHO's COVID-19 response, told a press conference the pandemic is "accelerating in many parts of the world".

"While we have seen countries have some success in suppressing transmission and bringing transition down to a low level, every country must remain ready," she said.

Mike Ryan, the head of the WHO's Health Emergencies Programme, said that some countries had managed to flatten the peak of infections without bringing them down to a very low level.

"You can see a situation in some countries where they could get a second peak now, because the disease has not been brought under control," he said.

"The disease will then go away and reduce to a low level, and they could then get a second wave again in the autumn or later in the year."

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Agencies
May 20,2020

Washington D.C., May 20: While a dairy-rich diet is helpful in meeting the body's calcium requirement, outcomes of a large international study links eating at least two daily servings of dairy with lower risks of diabetes and high blood pressure.

The dairy-rich diet also proved to lower the cluster of factors that heighten cardiovascular disease risk (metabolic syndrome). The study was published online in journal BMJ Open Diabetes Research & Care.

The observed associations were strongest for full-fat dairy products, the findings indicated.

Previously published research has suggested that higher dairy intake is associated with a lower risk of diabetes, high blood pressure, and metabolic syndrome. But these studies have tended to focus on North America and Europe to the exclusion of other regions of the world.

To see whether these associations might also be found in a broader range of countries, the researchers drew on people taking part in the Prospective Urban Rural Epidemiology (PURE) study.

Participants were all aged between 35 and 70 and came from 21 countries: Argentina; Bangladesh; Brazil; Canada; Chile; China; Colombia; India; Iran; Malaysia; Palestine; Pakistan; Philippines, Poland; South Africa; Saudi Arabia; Sweden; Tanzania; Turkey; United Arab Emirates; and Zimbabwe.

Usual dietary intake over the previous 12 months was assessed by means of Food Frequency Questionnaires. Dairy products included milk, yogurt, yogurt drinks, cheese and dishes prepared with dairy products, and were classified as full or low fat (1-2 percent).

Butter and cream were assessed separately as these are not commonly eaten in some of the countries studied.

Information on personal medical history, use of prescription medicines, educational attainment, smoking and measurements of weight, height, waist circumference, blood pressure and fasting blood glucose were also collected.

Data on all five components of the metabolic syndrome were available for nearly 113,000 people: blood pressure above 130/85 mm Hg; waist circumference above 80 cm; low levels of (beneficial) high-density cholesterol (less than 1-1.3 mmol/l); blood fats (triglycerides) of more than 1.7 mmol/dl; and fasting blood glucose of 5.5 mmol/l or more.

Average daily total dairy consumption was 179 g, with full-fat accounting for around double the amount of low fat: 124.5+ vs 65 g.

Some 46, 667 people had metabolic syndrome--defined as having at least 3 of the 5 components.

Total dairy and full-fat dairy, but not low-fat dairy, was associated with a lower prevalence of most components of metabolic syndrome, with the size of the association greatest in those countries with normally low dairy intakes.

At least 2 servings a day of total dairy were associated with a 24 percent lower risk of metabolic syndrome, rising to 28 percent for full-fat dairy alone, compared with no daily dairy intake.

The health of nearly 190,000 participants was tracked for an average of nine years, during which time 13,640 people developed high blood pressure and 5351 developed diabetes.

At least 2 servings a day of total dairy was associated with a 11-12 percent lower risk of both conditions, rising to a 13-14 percent lower risk for 3 daily servings. The associations were stronger for full fat than they were for low-fat dairy.

This is an observational study, and as such can't establish the cause. Food frequency questionnaires are also subject to recall, and changes in metabolic syndrome weren't measured over time, all of which may have influenced the findings.

Nevertheless, the researchers suggest: "If our findings are confirmed in sufficiently large and long term trials, then increasing dairy consumption may represent a feasible and low-cost approach to reducing [metabolic syndrome], hypertension, diabetes, and ultimately cardiovascular disease events worldwide."

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Agencies
June 22,2020

A team of scientists has produced first open source all-atom models of full-length COVID-19 Spike protein that facilitates viral entry into host cells – a discovery that can facilitate a faster vaccine and antiviral drug development.

The group from Seoul National University in South Korea, University of Cambridge in the UK and Lehigh University in the US produced the first open-source all-atom models of a full-length S protein.

The researchers say this is of particular importance because the S protein plays a central role in viral entry into cells, making it a main target for vaccine and antiviral drug development.

"Our models are the first full-length SARS-CoV-2 spike (S) protein models that are available to other scientists," said Wonpil Im, a professor in Lehigh University.

"Our team spent days and nights to build these models very carefully from the known cryo-EM structure portions. Modeling was very challenging because there were many regions where simple modeling failed to provide high-quality models," he wrote in a paper published in The Journal of Physical Chemistry B.

Scientists can use the models to conduct innovative and novel simulation research for the prevention and treatment of Covid-19.

Though the coronavirus uses many different proteins to replicate and invade cells, the Spike protein is the major surface protein that it uses to bind to a receptor.

The total number of global COVID-19 cases was nearing 9 million, while the deaths have increased to over 467,000, according to the Johns Hopkins University.

With 2,279,306 cases and 119,967 deaths, the US continues with the world's highest number of COVID-19 infections and fatalities, according to the CSSE.

Brazil comes in the second place with 1,083,341 infections and 50,591 deaths.

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