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Consanguinity May Increase The Risk Of Common Diseases
Researchers from the Wellcome Sanger Institute and their collaborators at Queen Mary University of London analysed the genomic data of diverse groups to investigate the relationship between autozygosity – a measure of genetic relatedness between an individual's parents – and the prevalence of common diseases, with a novel method that reduces confounding due to sociocultural factors. They focused their analysis on the Genes & Health cohort, which consists of British individuals of Pakistani and Bangladeshi descent, as well as individuals of both European and South Asian descent from the UK Biobank.
The Genes & Health Community Advisory Board worked with the researchers to produce a publicly accessible document aimed at the lay public, explaining the study's motivations, methodology, and findings.
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Subscribe for FREEThe findings, published today (26 September) in Cell, help shed light on the complex interplay between genetics and health outcomes, especially among populations with higher rates of consanguinity.
Consanguinity is the social and cultural practice of marriage between two blood-related individuals who share a recent common ancestor, for example a grandparent or great-grandparent. This practice is observed across the world with varying prevalence. Over 10 percent of the global population consists of individuals who are the offspring of second cousins or closer. In the UK, consanguinity is more common among some British South Asian communities.
Consanguinity increases the fraction of an individual's genome that is inherited identically from both parents, a phenomenon termed autozygosity. While it is well established that consanguinity increases the risk of rare single-gene disorders by increasing the chance that an individual will inherit the same rare DNA change in a disease-causing "recessive" gene, its impact on common diseases remains understudied.
British Pakistanis and Bangladeshis have higher rates of several diseases than the UK average – for example a four-to-six-fold increased risk of developing type 2 diabetes compared to individuals of European ancestry. However, these diseases involve a complex interplay of genetic and environmental factors, and, prior to this study, it was unknown whether consanguinity plays a role.
In this new study, researchers from the Wellcome Sanger Institute and their collaborators set out to assess the impact of consanguinity on complex genetic diseases.
The teams analysed genomic data to describe different patterns of consanguinity in distinct populations, including 23,978 British individuals of Pakistani and Bangladeshi descent from the Genes & Health cohort, and 397,184 individuals of European or South Asian descent from the UK Biobank cohort. They found that around 33 per cent of individuals in Genes & Health were offspring of second cousins or closer, versus 2 per cent of individuals of European descent in UK Biobank.
They then investigated the relationship between autozygosity and the prevalence of common diseases. For this, they restricted their analysis to a set of approximately 5,700 individuals in Genes & Health and UK Biobank with parents who were inferred to be first cousins based on the genetic data. Within this restricted 'highly consanguineous' group, the precise level of autozygosity is randomly determined, between 4 to 15 per cent, and the researchers showed that it is not correlated with sociocultural and environmental factors, such as religiosity, education or diet, which might themselves influence health traits. This novel method helped ensure any observed links between autozygosity and diseases were biological in cause, rather than due to confounding.
Among the 61 complex genetic diseases examined in the Genes & Health and UK Biobank cohorts, researchers identified 12 diseases and disorders associated with increased autozygosity resulting from consanguinity. These included type 2 diabetes, asthma, and PTSD. The associations with type 2 diabetes and PTSD were then validated in a separate dataset from the consumer genetic company 23andMe Inc., using a between-sibling analysis technique.
Analysis suggested that consanguinity may account for approximately 10 percent of type 2 diabetes cases among British Pakistanis and around 3 percent of cases among British Bangladeshis. However, any health risks of consanguinity should be balanced with the positive social benefits of the practice as well as considered alongside other, more substantial modifiable risk factors, such as exercise, smoking and body mass index.
This research reveals important insights into the factors influencing health outcomes and the associations between autozygosity and complex diseases within British Pakistani and Bangladeshi communities. It suggests that genetic studies of complex diseases should be broadened to pinpoint specific variants and genes with recessive effects.
"While consanguinity has a smaller role in common diseases compared to other factors, it is still essential to understand its specific influence on health in these communities. Our new method exploring the natural variation in expected autozygosity amongst offspring of first cousins was a key breakthrough in helping us to test its impact. Some of our results suggested that cultural and environmental factors associated with consanguinity can sometimes exaggerate associations between autozygosity and health-related traits, or even mask truly causal associations. Our results suggest that some findings from previous studies linking autozygosity to complex traits in humans may have been misleading."
Daniel Malawsky,first author of the study and PhD student at the Wellcome Sanger Institute
"This work underscores the significance of culturally sensitive approaches in health research, acknowledging the delicate balance between social benefits and any potential risks. The research team actively engaged community members, taking into account our traditions, cultures, and religious practices. By empowering people with the knowledge to make informed health decisions, we can help tackle the health disparities in our communities, especially in diseases like type 2 diabetes."
Councillor Ahsan Khan,chair of the Genes & Health community advisory board and councillor at Waltham Forest
"This research would not have been possible without the many thousands of volunteers who generously agreed to participate in the Genes & Health study and UK Biobank."
Professor Sarah Finer,author of the study, co-lead of the Genes & Health research programme from Queen Mary, University of London
"The findings have the potential to inform disease risk prediction as well as future research efforts to identify specific genetic variants associated with these diseases, not only within these specific communities but also globally, particularly across populations where consanguinity rates are higher. This could be used to help stratify individuals for earlier screening and identify potential drug targets."
Dr Hilary Martin,senior author of the paper and group leader at the Wellcome Sanger Institute
Going To Bed An Hour Later At Night Could Raise Your Risk Of Killer Disease
This article contains affiliate links, we will receive a commission on any sales we generate from it. Learn more Heart disease: Doctor explains how to reduce risk in 2021Going to bed just an hour later could put you at a greater risk of developing a silent killer disease.
Heart and other circulatory diseases are among the biggest causes of death in the UK, accounting for around a quarter of all fatalities.
There are a number of factors that can put you at increased risk for heart problems including diet, how often you exercise and genetics.
However, new research revealed that your sleeping habits can also have a major impact on your heart health.
A study, conducted by Columbia University in the US, has found that not getting enough sleep at night can damage the heart.
The research, which has been published in Scientific Reports journal, concluded that even mild sleep deprivation can be dangerous.
A new study linked mild sleep deprivation to cardiovascular disease (Image: Getty Images)As part of the 12-week study, 35 healthy women who typically slept the recommended seven to eight hours each night participated.
For the first six weeks of the study they maintained their regular sleep schedules.
But in the subsequent six weeks they went to bed an hour and a half later than usual.
They wore sleep trackers around their wrists so their sleeping habits could be monitored.
Chest pain is one sign of heart disease (Image: Getty) Experience the Express like never beforeIt was discovered that after just six weeks of getting less sleep, the cells lining the participants' blood vessels were exposed to harmful oxidants.
This was because the cells subjected to sleep deprivation were unable to activate antioxidant responses to clear the harmful molecules.
As a result, these sleep-deprived cells became inflamed and dysfunctional, a critical early stage in the development of cardiovascular disease.
Study leader and director of the Centre for Sleep Medicine at Columbia, Sanja Jelic, said in a university release: "This is some of the first direct evidence to show that mild chronic sleep deficits cause heart disease.
Tips for sleeping better at night (Image: Express.Co.Uk)"Until now we've only seen associations between sleep and heart health in epidemiological studies, but these studies could be tainted by many confounders that cannot be identified and adjusted for.
"Only randomised controlled studies can determine if this connection is real and what changes in the body caused by short sleep could increase heart disease."
Dr Jelic warned that going to bed later at night is common among adults.
She said: "Most people get up around the same time each day but tend to push back their bedtime one to two hours.
"We wanted to mimic that behaviour, which is the most common sleep pattern we see in adults."
The NHS recommends that adults sleep seven to nine hours a night.
However, findings by YouGov suggest only 32 percent of people in the UK sleep seven hours and 17 percent get eight hours a night. Twenty-eight percent of people said they sleep six hours a night.
Dr Jelic added: "Many problems could be solved if people sleep at least seven to eight hours per night.
"People who are young and healthy need to know that if they keep getting less sleep than that, they're aggravating their cardiovascular risk."
After 12 Years As President, Tony Monaco Is Returning To Genetic Research
While Anthony Monaco may no longer be president, he's taken on a new full-time role at Tufts: professor of biology. After stepping down from his 12-year role in June, President Emeritus Monaco is devoting his time to genetic research on the cause of mental health disorders.
Monaco's roots are in genetic research; he studied neuroscience as an undergraduate at Princeton University before earning a Ph.D. And an M.D. At Harvard University. Immediately prior to serving as president of Tufts, he was a lecturer in human genetics at the University of Oxford.
"It feels natural to go back into the field," Monaco said. "During the pandemic, with the lack of travel and lack of in-person events, [I was] able to spend a lot of time revisiting mental health disorders. And over the last year in particular, as I was transitioning, we discovered some very peculiar RNA connections which we're exploring further."
Monaco's research focuses on the role RNA plays in the genetic linkage among certain mental health disorders.
"Autism, attention deficit hyperactivity disorder, anxiety, depression, schizophrenia, manic depression — they all have very high genetic risks," Monaco said. Yet, while these disorders are linked to genes, scientists have been unable to find their corresponding DNA locations.
To understand the genetics behind hereditary mental health disorders, Monaco has turned his research toward DNA's sister molecule, RNA. This nucleic acid is responsible for DNA transcription and translation for the expression of genes. Monaco's team discovered an RNA connection which is unique for its size and circular shape, aptly naming it "Jumbo RNA."
"Genes are known to be expressed as lines, linear transcripts, but they can also make circles," Monaco said. "What we discovered is, these large circles, which actually cross over seven or eight genes at a time, may be coordinating the expression of all seven or eight genes simultaneously. … We're wondering whether this Jumbo circular RNA system may be epigenetically controlled or have a memory of the number of stressors or the type of stress."
The main question prompted by this discovery is how Jumbo RNA maintains or changes the regulation of stressors, a large factor behind mental health diagnoses.
Monaco's research on mental health disorders is still in its preliminary stages, but this isn't the first time he's focused on the issue; as president, he assembled a task force aimed at evaluating the mental health resources available to students on all of Tufts' campuses.
Mental health-related issues have been steadily increasing for a long time, stretching treatment resources thin nationwide. Monaco acknowledged that this issue is not only present at Tufts but all over the country, as adolescents and young adults cannot get access to the professional health care they need.
"There's always room for improvement, but I think we were early adopters in taking the rise seriously and forming a task force to find out where our services were lacking and to build them up," Monaco said.
Among other initiatives, the task force prompted the creation of two new positions within Tufts Counseling and Mental Health Services: the mental health promotion specialist and the clinical care manager. The former is non-clinical and raises awareness of mental health issues and resources, while the latter assists students with obtaining care in the community.
Julie S. Ross, director of CMHS, praised Monaco's work to advance mental health as president.
"President Monaco's and Tufts' commitment to mental health was one of the factors that led to Tufts being awarded the inaugural HBC Foundation scholarship to join JED Campus, the leading national program helping colleges and universities enhance mental health," Ross wrote in an email to the Daily.
Monaco's research on the genetic components of mental health disorders and his initiative to improve distribution and accessibility of mental health services show the importance of both policy and scientific research.
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