Month: November 2023

Categories : DermatologyTags :

Researchers Stumble on Haemoglobin in the Epidermis

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Researchers have shown for the first time that haemoglobin, a protein found in red blood cells where it binds oxygen, is also present in the epidermis. The study, which appears in the Journal of Investigative Dermatology, published by Elsevier, provides important insights into the properties of the skin’s protective external layer.

This research was driven by a curiosity about the protective role of the epidermis and what unexpected molecules are expressed in it. Researchers discovered the haemoglobin α protein in keratinocytes of the epidermis and in hair follicles. This unexpected evidence adds a new facet to the understanding of the workings of the skin’s defence mechanisms.

Lead investigator of the study Masayuki Amagai, MD, PhD, Department of Dermatology, Keio University School of Medicine, Tokyo, and Laboratory for Skin Homeostasis, RIKEN Center for Integrative Medical Sciences, Yokohama, explains: “The epidermis consists of keratinised stratified squamous epithelium, which is primarily composed of keratinocytes. Previous studies have identified the expression of various genes with protective functions in keratinocytes during their differentiation and formation of the outer skin barrier. However, other barrier-related genes escaped prior detection because of difficulties obtaining adequate amounts of isolated terminally differentiated keratinocytes for transcriptome analysis.”

Haemoglobin binds gases such as oxygen, carbon dioxide, and nitric oxide, and it is an iron carrier via the heme complex. These properties make epidermal haemoglobin a prime candidate for antioxidant activity and potentially other roles in barrier function.

Professor Amagai continues: “We conducted a comparative transcriptome analysis of the whole and upper epidermis, both of which were enzymatically separated as cell sheets from human and mouse skin. We discovered that the genes responsible for producing haemoglobin were highly active in the upper part of the epidermis. To confirm our findings, we used immunostaining to visualise the presence of haemoglobin α protein in keratinocytes of the upper epidermis.”

Professor Amagai concludes: “Our study showed that epidermal haemoglobin was upregulated by oxidative stress and inhibited the production of reactive oxygen species in human keratinocyte cell cultures. Our findings suggest that haemoglobin α protects keratinocytes from oxidative stress derived from external or internal sources such as UV irradiation and impaired mitochondrial function, respectively. Therefore, the expression of haemoglobin by keratinocytes represents an endogenous defence mechanism against skin aging and skin cancer.”

Source: EurekAlert!

Categories : Mental HealthTags :

Psychologists Reveal Magicians’ Secret Trick: A Low Risk of Depression

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Photo by Fengyou Wan on Unsplash

Magicians are less likely to suffer from the mental health challenges faced by other creative people, like musicians and comedians, according to a new study published in the journal BJPsych Open. From comedians like Robin Williams, to poets and painters like Sylvia Plath and Van Gogh, many famous names have had well-publicised mental health disorders.

While not fully understood, there is growing evidence of a link between these health challenges and creativity. This new research led by Aberystwyth University shows that on some key measures, magicians are apparently an exception to this trend.

The study measured the psychological traits of 195 magicians and 233 people from the general population and compared with data from other creative groups. The academics’ work shows that on three key measures of psychosis or degrees of losing contact with reality, magicians are significantly less likely to suffer than artists, musicians and comedians. Magicians were less likely than all other creatives to have unusual experiences, such as hallucinations or cognitive disorganisation, which can make it hard to concentrate. Indeed, on many measures magicians appear to be less prone to these conditions than the general population. Their mental health profiles are most similar to those of mathematicians and scientists.

Dr Gil Greengross from the Department of Psychology at Aberystwyth University commented: “There is a common perception that many creative people have mental illnesses, and such illnesses make them more creative. This is the first study to show a creative group with lower scores on psychotic traits than the general population. Our research shows that members of at least one creative group, magicians, do not exhibit higher levels of mental disorders. The results demonstrate that the association between creativity and psychopathology is more complex than previously thought, and different kinds of creative work could be associated with either high or low psychoticism or autistic traits.

“The study highlights the unique characteristics of magicians, and the possible myriad associations between creativity and mental disorders among creative groups. One thing that distinguishes magicians from most other performing artists is the precision required in their performances. So, compared to other performers, it is more difficult to overcome errors. Magic tricks are largely ‘all or nothing’ acts that culminate in an ‘aha’ moment of surprise and awe. Failed magic tricks leave a greater impact than unfunny jokes, and are harder to compensate for, as they are few and far between. So, in addition to requiring highly technical skills, regardless of the type of magic performed, the high stakes of magic performances make magicians a unique creative group to study amongst all artistic professions.”

Dr Greengross from Aberystwyth University added: “What distinguishes magicians from most other creative people is that they not only create their own magic tricks but also perform them, while most creative groups are either creators or performers. For example, poets, writers, composers and choreographers create something that will be consumed or performed by others. In contrast, actors, musicians and dancers perform and interpret the creation of others. Magicians, like comedians and singer-songwriters, are one of the rare groups that do both.

“Magicians scored low on impulsive nonconformity, a trait that is associated with anti-social behaviour and lower self-control. These traits are valuable for many creative groups such as writers, poets and comedians whose creative acts are often edgy and challenge conventional wisdom. Magicians can also be equally innovative and push the limits of what is thought to be possible in magic, such as David Copperfield’s famous flying illusion. However, many magicians perform familiar tricks or some variations of them without feeling the need to innovate.”

Source: Aberystwyth University

Categories : Metabolic DisordersTags :

Obesity Reduces the Rate at Which Energy is Burnt

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Source: Pixabay CC0

A new study published in the journal Obesity found that people at a healthy weight use more energy during the day, when most people are active and eat, while those who have obesity spend more energy during the night, when most people sleep. The study, from Oregon Health & Science University, also found that during the day, those with obesity have higher levels of insulin – a sign that the body is working harder to use glucose.

“It was surprising to learn how dramatically the timing of when our bodies burn energy differed in those with obesity,” said the study’s first author, Andrew McHill, PhD, an assistant professor in the OHSU School of Nursing and the Oregon Institute of Occupational Health Sciences at OHSU. “However, we’re not sure why. Burning less energy during the day could contribute to being obese, or it could be the result of obesity.”

Obesity is defined as having a Body Mass Index, or BMI, of 30 or more. Being overweight or obese increases the risk for health conditions such as high blood pressure and Type 2 diabetes.

Schedules and when people sleep, eat and exercise can also affect health, by either complementing or going against the body’s natural, daily rhythms. Every 24 hours, people experience numerous changes that are triggered by the human body’s internal clock. These changes normally occur at certain times of the day in order to best serve the body’s needs at any given hour.

McHill and the study’s senior author, Steven A. Shea, PhD, director of the Oregon Institute of Occupational Health Sciences at OHSU, focus their research on how circadian rhythms and sleep impact the human body. McHill leads the OHSU Sleep, Chronobiology and Health Laboratory.

While previous research has suggested circadian rhythm misalignment affects energy metabolism and glucose regulation, those studies have largely involved participants who have a healthy weight. To explore this further, McHill, Shea and colleagues organized a study that included people of different body sizes.

A total of 30 participants took part in the study, which involved them staying at a specially designed circadian research lab for six days. The study followed a rigorous circadian research protocol involving a schedule designed to have participants be awake and sleep at different times throughout each day.

After each period of sleep, volunteers were awakened to eat and participate in a variety of tests for the remaining time of each day. One test had participants exercise while wearing a mask that was connected to a machine called an indirect calorimeter, which measures exhaled carbon dioxide and helps estimate energy usage. Blood samples were also collected to measure glucose levels in response to an identical meal provided during each day.

Next, the research team plans to explore eating habits and hunger in people who are obese, as well as those who have a healthy weight. That new study will also follow up on a 2013 study, led by Shea, that found circadian clocks naturally increase food cravings at night.

Source: Oregon Health & Science University

Categories : General InterestTags :

This Doctors’ Day, EthiQal Says “Thank You!”

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I hope this newsletter finds you in good health and high spirits. As part of Doctors’ Day on 16 November, my team and I wanted to take a moment to express our deepest gratitude and appreciation for the incredible work you do every day.

On this special occasion, we celebrate you and your fellow doctors for the remarkable impact you make on the lives of those you serve. Your expertise, resilience, and compassionate care contribute to the betterment of our community and the well-being of countless individuals. We recognise the challenges you face, especially in these unprecedented times, and we are inspired by your continued efforts to provide exceptional healthcare.

At EthiQal, we take pride in supporting doctors like you. We are committed to ensuring that you have the comprehensive insurance coverage you need, allowing you to focus on what matters most – your patients.

To mark this occasion, we extend our warmest wishes for a Happy Doctors’ Day! May you find time to reflect on your accomplishments and the positive impact you’ve made on the lives you’ve touched.

As a token of our appreciation, we have created a small thank you video. Please click on the video below – it may be a small gesture, but we hope it brings a smile to your face and serves as a reminder of the impact you make every day.

A ‘Thank You’ Doctors’ Day video from EthiQal

We are also donating, on your behalf, to the Healthcare Workers Care Network (HWCN), a nationwide healthcare worker mental health support network with the slogan ‘Caring for the Carers by Carers’. They do great work supporting doctors, sustained only by financial donations and pro bono work.

Thank you for your tireless dedication, and we look forward to continuing to support you whilst you focus on making our nation healthier.

Wishing you a Happy Doctors’ Day!

Warm Regards

Alex Brownlee

EthiQal CEO

Categories : GenderTags :

Men’s Health Awareness Month: Supporting Men’s Health in the Workplace

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To mark Men’s Health Awareness Month, International SOS, the world’s leading health and security risk services company, emphasises the importance of creating supportive workplace environment that foster men’s health and mental wellbeing.

Men’s health remains a significant concern and poorer health profiles for men than for women have been reported, with discrepancies found in metrics including life expectancy, mortality rates, disability-adjusted life years, and non-sex-specific disease death rates.1 The World Health Organization (WHO) reports that non-communicable diseases (NCDs), are claiming around 74% of all lives lost each year2, and in 2018, NCDs and injuries accounted for 86% of all male fatalities.3

The WHO data shows that men across all socioeconomic groups demonstrate unhealthier smoking practices, unhealthier dietary patterns, higher alcohol consumption levels and higher rates of injuries than women.3 In fact, among the global population that used tobacco in 2020, a significantly higher percentage were men (36.7%), compared to women (7.8%).4 These statistics highlight the need to focus on improving men’s health and organisations can play a vital role in enhancing men’s health within their workplaces.

Men are significantly less likely than women to seek preventive care services, which can often lead to undiagnosed conditions.1 Men are also found to be less likely to have received mental health treatment than women. The stigma attached to illness and men perceiving illness as a weakness are often found to be the reasons why men are not as vocal about their health and mental wellbeing concerns.5

Dr Anthony Renshaw, Regional Medical Director at International SOS, said “Men’s Health Awareness Month provides a crucial opportunity for organisations to re-evaluate their approach to supporting the health and wellbeing of male employees. In addition to physical health, we must also prioritise mental health, as it has a direct impact on overall productivity and workplace satisfaction. Employers can play a pivotal role in fostering open discussions, reducing stigma, and promoting a supportive environment for men to seek the help they may need.”

International SOS offers guidelines for organisations to provide workplace support specific for men’s health and wellbeing with the ‘H-O-P-E’ approach:

  1. Hold workplace men’s forum that can act as a safe space. Having a supportive work environment where everyone, particularly men, know that they are allowed the time to address any health concerns is extremely enabling.
  2. Offer male-specific confidential support from mental health professionals.
  3. Provide your team leads with appropriate training to enable them to spot early signs of poor physical and mental health and know where they can signpost their employees to.
  4. Encourage employees to have regular health check-ups, particularly screening for early detection and treatment of NCDs, as well as a mental health assessment if needed.
  1. The World Journal of Men’s Health | Changing Men’s Health: Leading the Future
  2. World Health Organization (WHO) | Noncommunicable Diseases fact sheet
  3. World Health Organization (WHO) | Men’s Health fact sheet
  4. World Health Organization (WHO) | Tobacco fact sheet
  5. National Institute of Mental Health | Men and Mental Health
Categories : Cardiovascular Disease Metabolic DisordersTags :

Collaboration Key to Address SA’s Fatal, Diabetes-linked Cardiovascular Disease Burden

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Photo by Hush Naidoo on Unsplash

Only concerted multi-disciplinary collaboration and research will stem the tide of diabetes and diabetes-linked cardiovascular disease (CVD), the latter currently the leading cause of death locally and worldwide, claiming 17.9 million lives annually1.

This was the consensus among some of the world’s leading cardiologists and researchers gathered at the SA Heart Association’s annual congress aptly themed: ‘The Cardiac Collaboration,’ which took place at the Sandton Convention Centre in Johannesburg from 26-29 October this year.

Globally, CVD takes more lives than TB, HIV and malaria combined, while 215 South Africans are killed by CVD every day – with 80% of CVD and strokes being preventable.1,2 The prevalence of diabetes has also increased in South Africa, from 4.5% in 2010 to 12.7% in 2019. Of the 4.58 million people aged 20-79 years who were estimated to have diabetes in 2019, 52.4% were undiagnosed.3

With diabetes being a key driver of CVD – especially in Africa (with limited access to novel drugs and the prevalence of sugar-rich, poverty-driven lifestyles), the mutual consensus at this year’s congress was that collaboration is key.

Dr Zaheer Bayat, Chairperson of the Society for Endocrinology, Metabolism and Diabetes of South Africa (SEMDSA), told delegates that endocrinologists and cardiologists would have to work together to improve outcomes for diabetic patients, 30% of whom suffered cardiovascular events. He warned that a 134% increase of people living with diabetes was predicted over the next two decades, translating into a dramatic surge in chronic kidney disease, cardiovascular disease, blindness, and amputations.

Dr Bayat said he intends appealing for mass diabetes screening to find the 52% of people whom researchers estimate are undiagnosed. Ideally, this should be followed by access to cheaply acquired, effective new glucose-lowering drugs.

“The reality is that this country cannot afford all the new treatments for everyone – not private funders, not government. So, drugs are not really a solution – the best solution is to change lifestyle and prevent disease in the first place,” said Dr Bayat.

“We’re here to fight for our patients, not our pockets. Can we afford to have 52% of our patients not knowing they’re diabetic? People who should be contributing to our economy are living with diabetes and eventually dying,” he asserted.

Dr Bayat also said that globally, First World countries such as the USA and Sweden are reducing myocardial infarctions, strokes, and amputations, because they’re doing all the right things together. This included adopting a healthy lifestyle, effective management of sugar, blood pressure and cholesterol and smoking cessation.

“However, here in South Africa with private healthcare representing 15% of healthcare delivery but consuming 50% of the spend and the public sector representing 85% of the population and consuming the other half – we’re not doing nearly as well. With only 200 cardiologists in the country (one per 190 000 population), and even less nephrologists, we need to join together and change the trajectory of diabetes. We must work together to reduce morbidity and mortality,” said Dr Bayat.

According to the SA Heart Association, this graphically illustrates the importance of a multi-disciplinary approach, the very reason why the conference was called ‘The Cardiac Collaboration.’

The SA Heart Association has already begun forging formal ties with other academic societies and next year, it hopes to join and host joint sessions with collaborative meetings to connect a multidisciplinary team in order to achieve a well-rounded balance of care.

References:

  1. https://www.heartfoundation.co.za/wp-content/uploads/2017/10/CVD-Stats-Reference-Document-2016-FOR-MEDIA-1.pdf.
  2. https://world-heart-federation.org/what-we-do/prevention/#:~:text=An%20estimated%2080%25%20of%20cardiovascular,and%20%E2%80%9Cknowing%20your%20numbers%E2%80%9D.
  3. International Diabetes Federation. IDF Diabetes Atlas.10th ed. International Diabetes Federation; Brussels, Belgium: 2021. [Google Scholar] (primary). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218408/#:~:text=The%20prevalence%20of%20diabetes%20mellitus,%25%20were%20undiagnosed%20%5B5%5D. (secondary).
Categories : Cardiovascular DiseaseTags :

Intensive BP Target of Under 120mmHg Yields even Better Outcomes

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Pexels Photo by Thirdman

An intensive three-year intervention to lower systolic blood pressure (BP) to less than 120mmHg was more effective at preventing death, heart attack, stroke and other cardiovascular events in adults at high risk for cardiovascular disease, compared to the standard treatment target of under 140mmHg, according to late-breaking science presented at the American Heart Association’s Scientific Sessions 2023.

“Our study provides evidence to support targeting systolic blood pressure to less than 120mmHg in hypertensive patients with high cardiovascular risk and normal or mild-reduced kidney function, regardless of their diabetes status (Type 1, Type 2 or none) or history of stroke,” said lead study author Jing Li, MD, PhD, director of the department of preventive medicine at the National Center for Cardiovascular Diseases in Beijing, China.

The researchers conducted a multi-centre, randomised controlled trial to evaluate the effects of an intensive blood pressure-lowering strategy on the incidence of major cardiovascular events, including heart attack, stroke, cardiovascular death, revascularisation, or hospitalisation or emergency room visit for heart failure, in participants with increased cardiovascular risk.

Participants in the ESPRIT trial were randomised to receive intensive antihypertensive treatment with a systolic BP target of less than 120mmHg (using higher doses and multiple classes of drugs) or standard treatment, with a target measurement of under 140mmHg over a three-year period. Safety was assessed between treatment groups by comparing serious adverse events among participants.

The researchers found that after two years, participants in the intensive treatment group had significantly better outcomes than those receiving standard care. Compared with the standard treatment, the intensive treatment strategy prevented:

  • 12% of heart attacks, stroke, revascularisation procedures, death from cardiovascular causes and hospitalisation or emergency room visit for heart failure;
  • 39% of deaths from cardiovascular causes; and
  • 21% of deaths from any cause.
  • There was no significant difference in serious adverse events of hypotension, electrolyte abnormality, fall resulting in an injury, acute kidney injury or renal failure.

Syncope, or fainting, was one of the serious adverse events used to evaluate safety. Syncope occurred at a rate of 0.4% per year in the intensive group and 0.1% in the standard group. This means that for every 1000 patients receiving the intensive treatment for 3 years, 3 patients would experience a serious adverse event of syncope, while 14 major vascular events and 8 deaths would be further prevented, Li noted.

“These results provide evidence that intensive hypertension treatment focused on achieving systolic blood pressure of less than 120mmHg is beneficial and safe for individuals with high blood pressure and increased cardiovascular risk factors,” Li said. “Implementing this intensive treatment strategy for high-risk adults has the potential to save more lives and reduce the public health burden of heart disease worldwide.”

Study details and background:

  • The ESPRIT trial included 11,255 adults in China. Participants had a baseline systolic blood pressure measurement of 130–180mmHg and either established cardiovascular disease or at least two major risk factors for cardiovascular disease.
  • Participants were an average age of 64.6 years; 41.3% women and 58.7% men.
  • Approximately 27% of the study participants had a history of stroke; approximately 29% had previous coronary heart disease; and approximately 39% had diabetes, Type 1 or Type 2.
  • The trial’s primary outcome was a composite outcome of heart attack, coronary or non-coronary revascularisation, hospitalisation/emergency room visit for heart failure, stroke or CV death. Secondary outcomes included CV outcomes, kidney outcomes and cognitive outcomes.

Study limitations included that the cardiovascular benefits of the intensive intervention emerged after two years, while the intervention only lasted three years, meaning the relatively short study period may underestimate the benefits, Li said. In addition, the study was conducted in China and therefore, the results may not be generalisable to people in other racial and ethnic groups or living in other countries. However, Li also noted that the results were consistent with similar studies in people of other racial and ethnic groups.

Future work will involve examining the longer-term effects of the intensive intervention strategy over the follow-up period.

Source: American Heart Association

Categories : Ethics and Law HospitalsTags :

Cracking the Whip on Fraud, Waste and Abuse at This Week’s BHF Forensic Unit Indaba

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Photo by Jp Valery on Unsplash

A realistic update on the amount of funds lost to fraud, waste and abuse in the South African healthcare environment as well as a special address dedicated to the value and protection of whistle blowers will lead discussions during the annual Board of Healthcare Funders (BHF) Healthcare Forensic Management Unit (HFMU) Fraud, Waste and Abuse (FWA) Indaba at The Houghton in Johannesburg on Wednesday, 22 November.

Convened to coincide with International Fraud Awareness Week and to be moderated by BHF Forensic Unit chair, Dr Hleli Nhlapo, the Indaba spotlight will be on “Strengthening a Culture of Integrity and Accountability – New Strategies for a Corruption Resistant Future “ – subject of the keynote address.

The event will once again endorse the BHF’s representative role as a guardian of the interests of medical schemes, administrators and managed care organisations not only in South Africa but also Lesotho, Zimbabwe, Namibia, Botswana, Mozambique, Malawi and eSwatini.

To this end an unprecedented feature this year will be a panel discussion by Southern African Development Community (SADC) members on strengthening anti-corruption efforts in the SADC Region with cross-border co-operation.

“Promoting the culture of whistle blowing and the protection of whistle blowers” will be a significant key point on the Indaba agenda with the promise of a lively discussion on the encouragement of whistle blowing with the non-negotiable proviso that specific mechanisms should be put in place for corruption reporting without repercussions. 

Until last year fraud, waste and abuse losses in South Africa were generally estimated at just under the R30-billion mark, but as pointed out by the Special Investigating Unit’s Advocate Andy Mothibi at the BHF Conference earlier this year, this figure was likely to be a lot higher.

Fraudulent activities relating to false claims was still a major contributing factor to these losses, he explained, alluding to an observation that anything between 5% and 15% of all medical aid claims could include elements of FWA.

Spurious activities in this regard will no doubt emerge in some of the answers to the Indaba agenda question “Is there ‘Rent Seeking’ in our Healthcare System?” – “rent seeking” being an economic term for an individual who or an entity which seeks to increase their own wealth without creating any benefits or wealth by activities which aim to obtain financial gains and benefits through the manipulation of the distribution of economic resources.

In the same vein, the discussion on “Cracking the Code: Uncovering and Combating Organized Crime Networks in Healthcare”, should shed light on current FWA challenges followed by collaborative measures to counter these such as the use of the HMFU FWA portal introduced four years ago with the prime objective of combating healthcare fraud, waste, and abuse.

Another important element of FWA which has risen to the fore particularly since the successes of the SIU, has been the recovery of lost funds. This will be the focal point of a presentation “Navigating the Road to Restitution: Strategies for Successful Civil Claims Recovery in Healthcare” during which a series of steps to recover losses from wrongdoing or fraud in healthcare are scheduled to be presented.

Going by previous deliberations on the topic, these are likely to emphasise the need for a dedicated legal team with healthcare law and fraud recovery expertise and a commitment to justice for fraud and misconduct victims.

The day’s proceedings will conclude with the SADC member panel discussion on “Cross border Co-operation: Strengthening Anti-Corruption Efforts in the SADC Region”.

Members are expected to deal with important issues such as, not least, the protection of whistle blowers, as well as encouraging healthcare workers in their specific countries to report corruption risk-free with the promotion of law enforcement capabilities and related awareness campaigns.

Categories : Cardiovascular Disease Medical Research & TechnologyTags :

Researcher Helps Solve 60-year Mystery of the Heart’s Smallest Structures

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Credit: Wikimedia CC0

A researcher at the University of Kentucky has helped solve a 60-year-old mystery about one of the body’s most vital organs: The heart. Specifically, its tiniest structures: the complicated bundles of filament molecules inside its cells.

Kenneth S. Campbell, PhD, the director of translational research in the Division of Cardiovascular Medicine in the UK College of Medicine, helped map out an important part of the heart on a molecular level. The study was published online in the journal Nature.

Each cardiac cell contains thousands of smaller structures, called sarcomeres – the building blocks of muscle. Within each block, are hundreds of myosin filaments. To put this microscopic level into perspective, if the heart is a continent, Campbell and fellow researchers are looking at single strands of hair.

“Each filament has roughly 2000 molecules arranged in a really complicated structure that scientists have been trying to understand for decades,” said Campbell. “We knew quite a lot about the individual molecules and people thought the myosins could be arranged in groups of six that were called crowns, but not much beyond that.”

Campbell explained the most interesting discovery in the paper is that there are three different types of crowns. The interactions between them are shown in the second photo below.

“We think this means that heart muscle can be controlled more precisely than we had realised. We were also excited to see how myosin binding protein-C, another protein that is linked to genetic heart disease, sits within the structure. It gives us a new level of information about how the molecules are arranged in the heart,” said Campbell.

Working with researchers at the University of Massachusetts Chan Medical School, the group produced single-particle 3D reconstructions of the cardiac thick filaments. The pictures provide a new framework for interpreting structural, physiological and clinical observations.

“We’re interested in therapies for different kinds of heart failure and myopathies, where the heart muscles don’t work very well,” said Campbell. “Our research is one of many projects underway at the university to help come up with better therapies for heart disease.”

The research team collected heart samples from the Gill Cardiovascular Biorepository, of which Campbell is the director. Samples are donated for research purposes from patients who receive cardiovascular care at UK.

“We started the Gill Cardiovascular Biorepository in 2008. With the help of a surgeon at UK HealthCare, we started collecting samples of myocardium from organ donors and from patients who were getting cardiac transplants,” said Campbell. “Now we’ve built a huge resource with roughly 15 000 samples from nearly 500 people.

Source: University of Kentucky

Categories : GeneticsTags :

European Populations are More Genetically Diverse than Expected

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Source: CC0

Researchers have found that previous studies analysing the genomes of people with European ancestry may have reported inaccurate results by not fully accounting for population structure. By considering mixed genetic lineages, researchers at the National Human Genome Research Institute (NHGRI) demonstrated that previously inferred links between a genomic variant for lactase and traits such as a person’s height and low-density lipoprotein cholesterol (LDL-C) level may not be valid.

The study, published in Nature Communications, shows that people with European ancestry, who were previously treated as a genetically homogenous group in large-scale genetic studies, have clear evidence of mixed genetic lineages, known as admixture. As such, the results from previous genome-wide association studies that do not account for admixture in their examinations of people with European ancestry should be re-evaluated.

“By reading population genetics papers, we realised that the pattern of genetic makeup in Europe is too detailed to be viewed on a continental level,” said Daniel Shriner, PhD, staff scientist in the NIH Center for Research on Genomics and Global Health and senior author of the study. “What is clear based on our analysis, is when data from genetic association studies of people of European ancestry are evaluated, researchers should adjust for admixture in the population to uncover true links between genomic variants and traits.”

To look at European genetic ancestry, the researchers collated data in published genetic association studies and generated a reference panel of genomic data that included 19 000 individuals of European ancestry across 79 populations in Europe and European Americans in the US, capturing ancestral diversity not seen in other large catalogues of human genomic variation.

As an example, the researchers investigated the lactase gene, which encodes a protein that helps digest lactose and is highly varied across Europe. Using the new reference panel, they analysed how a genomic variant of the lactase gene is related to traits such as height, body mass index and LDL-C.

When the researchers considered the genetic admixture of the European population in their analysis, they found that the genomic variant of the lactase gene is not linked to height or LDL-C level. In contrast, the same variant does influence body mass index.

“The findings of this study highlight the importance of appreciating that the majority of individuals in populations around the world have mixed ancestral backgrounds and that accounting for these complex ancestral backgrounds is critically important in genetic studies and the practice of genomic medicine,” says Charles Rotimi, PhD, NIH Distinguished Investigator, director of the Center for Research on Genomics and Global Health and senior author of the study.

While the lactase gene is one example of a gene that may be incorrectly linked to some traits based on previous analyses, the researchers say it’s likely that there are other false associations in the literature and that some true associations are yet to be found. Information about how genomic variants are related to different traits helps researchers estimate polygenic risk scores and may give clues about a person’s ability to respond safely to drug treatments.

While the differences in any two people’s genomes are less than 1%, the small percentage of genomic variation can give clues about where a person’s ancestors might have come from and how different families might be related. Information about who a person is biologically descended from, known as genetic ancestry, can give important clues about genetic risks for common diseases.

“Finding true genetic associations will help researchers be more efficient and careful with how further research is conducted,” said first author Mateus Gouveia, PhD, research fellow in the Center for Research on Genomics and Global Health. “We hope that by accounting for mixed ancestries in future genomic analyses, we can improve the predictive value of polygenic risk scores and facilitate genomic medicine.”

The reference panel generated in this study is available to the scientific community for use in other studies, with additional information provided in the paper.

Source: NIH/National Human Genome Research Institute