Latest news with #GWAS
Time of India
24-06-2025
- Health
- Time of India
Excess belly fat may trigger skin infection - psoriasis; science says
Source: Canva A recent study found that excess belly fat may increase the risk of developing psoriasis, a chronic inflammatory skin condition, particularly in women. Experts now recommend focusing on waist size, core strength, and lifestyle changes to reduce inflammation and disease risk. Researchers analyzed data from over 330,000 individuals in the UK and discovered a strong connection between abdominal fat and psoriasis. The finding suggests that central adiposity, or belly fat, plays a key role in psoriasis development. This indicates that carrying excess weight around the midsection may have serious health implications beyond aesthetics. Connection between excess belly fat and skin infection- psoriasis A study published in the Journal of Investigative Dermatology found that belly fat measurements, such as waist-to-hip ratio and waist circumference, are more strongly associated with psoriasis risk than traditional indicators like Body Mass Index (BMI). The researchers evaluated 25 fat-related body measurements and found that those related to abdominal fat showed the strongest links to psoriasis. Experts examined how different measures of adiposity- including BMI, waist circumference, and waist-to-hip ratio- influence the risk of developing psoriasis. This study emphasizes the importance of an alternative model for assessing health status, beyond merely BMI, particularly due to growing concerns about belly fat. By addressing waist size and modifying unhealthy behaviors, individuals can reduce their risk of psoriasis and improve overall skin health. What is psoriasis? Source: Canva Psoriasis is a chronic inflammatory skin disease. Research links it to metabolic syndromes, particularly obesity. Adiposity is common among individuals with psoriasis, particularly those with more severe disease. Evidence suggests a risk-increasing causal relationship between increasing levels of adiposity and psoriasis Increasing body mass index, waist circumference, and waist-to-hip ratio have all been associated with a higher risk of psoriasis in large population studies. Research shows that many people with psoriasis have high body fat levels. How body fat and genetics may drive psoriasis risk Researchers analysed both clinical and genetic data from over 330,000 UK Biobank participants. They examined 25 body fat measures using traditional and advanced imaging methods to assess their association with psoriasis. The study demonstrated relationships with body composition traits and psoriasis risk, as well as genetic variants that may contribute to each condition. Genome-wide association studies (GWAS) and Mendelian randomization were used to identify potential causal relationships, allowing researchers to examine beyond correlation the biological basis of the observed associations. Also read | What is Mouth Larvae: Know its causes, symptoms, prevention strategies and treatment One step to a healthier you—join Times Health+ Yoga and feel the change
The Hindu
16-06-2025
- Health
- The Hindu
How a lung gene is linked to post-COVID symptoms as per genetics study
More than four years since the COVID-19 pandemic began, the disease remains a global health concern — not because of new surges but because of what persists. Long COVID, or technically post-acute sequelae of SARS-CoV-2 infection (PASC), refers to symptoms that continue for weeks or months after the initial illness clears. These include fatigue, breathing problems, and cognitive issues. The World Health Organization defines long COVID as symptoms that begin within three months of infection and last at least two months without another explanation. Why some people develop long COVID while others recover quickly remains unclear. A recent genome-wide association study published in Nature Genetics analysed genetic data from six major global ancestries to investigate whether inherited differences play a role. A diverse study The study, conducted under the COVID-19 Host Genetics Initiative at the Germans Trias i Pujol research institute in Spain, used a Genome-Wide Association Study (GWAS) to identify genetic risk factors for long COVID. GWAS scans the genome for small 'spelling mistakes'— also known as single-nucleotide polymorphisms — in the DNA sequence that appear more often in people with a condition than in those without. This method has helped uncover links to many complex and chronic disorders. The analysis used data from 33 groups across 19 countries, making it one of the largest efforts to date in this area. The researchers first analysed data from 6,450 long COVID cases and over one million population controls. In this discovery phase, they identified a genetic signal near the FOXP4 gene. This signal was then tested in a separate replication cohort of more than 9,500 cases and nearly 8,00,000 controls, and the association was confirmed. The researchers applied two definitions of long COVID: a strict one requiring test-confirmed infection and ongoing symptoms, and a broader one that included self-reported or clinical diagnoses. Controls were also defined strictly (infected but recovered) or broadly (general population without long COVID). This helped the team test whether its results held up across different clinical definitions. Gene linked to long COVID risk The analysis found a strong association between long COVID and a region on chromosome 6, near the FOXP4 gene. A specific variant in the region, called rs9367106, increased the risk of developing long COVID. People with the 'C' version of this variant were about 63% more likely to have long COVID symptoms than those without it. Notably, FOXP4 increased long COVID risk even in people who weren't hospitalised, suggesting its effect is not tied solely to the severity of the initial infection. The variant's frequency also varied across populations. It appeared in about 1.6% of non-Finnish Europeans but up to 36% of East Asians. Because it was more common in some groups, its effects were easier to detect, even in smaller samples. This highlights why genetic studies that include diverse populations are more reliable and globally relevant. From lungs to immunity To understand the connection between FOXP4 and long COVID, the researchers examined how active this gene was in different tissues and cell types and how its activity related to the condition. The authors noted that the variant lies in a stretch of DNA that is especially 'active' in lung tissue, suggesting it may affect how lungs function. Using GTEx, a large gene activity database, they found that a nearby variant (rs12660421), often inherited with rs9367106, was linked to higher levels of FOXP4 expression in the lung. This made it more likely that the gene influences how the lungs respond to infection and injury. Going further, the researchers checked which lung cells produced FOXP4 most strongly. They found high activity in type 2 alveolar cells, key players in keeping air sacs open, clearing fluids, and repairing tissue damage. These cells also help coordinate the immune response to respiratory viruses like SARS-CoV-2. The same genetic region has also been associated with lung cancer in earlier research, suggesting that FOXP4 may influence multiple lung-related conditions via shared biological pathways. To test whether FOXP4 activity — and not just the genetic variant — might be linked to long COVID, researchers analysed blood samples from people who had recovered from the initial phase of infection. They found that individuals with moderately higher levels of FOXP4 had more than twice the odds of developing long COVID. This association persisted even outside the acute illness phase, suggesting a longer-term role for the gene. Finally, a technique called co-localisation analysis showed a 91% probability that the same genetic signal affects both FOXP4 activity and long COVID risk, reinforcing the gene's biological importance. India's genomic gaps The study has important implications for India, given its large population, genetic diversity, and significant COVID-19 burden. Multiple waves of infection and unequal access to care mean many Indians may continue to face lasting symptoms, often undiagnosed or untreated due to limited awareness and clinical follow-up. Indian studies suggest a wide range in long COVID prevalence: from 45% to nearly 80% depending on design, follow-up, and illness severity. One multicentre study across Hyderabad, Vellore, Mumbai, and Thiruvalla found that 16.5% of hospitalised patients self-reported symptoms like fatigue and breathlessness even a year after discharge. Although the GWAS included participants from six ancestry groups, the authors said most datasets were of European origin. South Asian representation was limited or unclear. This is a broader issue across GWAS in general, many of which have focused on European populations. Thus, it remains uncertain how frequently the FOXP4 variant occurs in the Indian population or whether its effects are similar in local contexts, particularly given region-specific factors such as air pollution, metabolic risk, and healthcare variability. India's growing genomic infrastructure is beginning to close foundational data gaps. The GenomeIndia Project has released genomic data on 10,000 individuals from diverse Indian populations. While the project is not focused on disease mapping, it provides a foundational catalogue of genetic variation across populations. This reference can support future studies, such as an India-specific GWAS on long COVID, thus building confidence in translating findings into clinical or diagnostic settings in local contexts. Some limitations This large-scale international study identifies FOXP4 as a genetic factor linked to long COVID, offering a new clue as to why some individuals experience prolonged symptoms after a SARS-CoV-2 infection. However, the authors also note several limitations. Most data were collected before widespread vaccination and the emergence of newer variants like Omicron, making it unclear if the findings apply to all populations today. They also caution that evolving definitions of long COVID may have led to misclassification in some cohorts. Additionally, the overall genetic contribution to long COVID appears modest, suggesting that other factors, including immunity and pre-existing conditions, also play key roles. As India continues to address the long-term effects of the pandemic, studies like this highlight the importance of including diverse populations in genetic research. Such efforts can improve public health responses and help tailor care for those living with long COVID. Anirban Mukhopadhyay is a geneticist by training and science communicator from Delhi.
Korea Herald
02-05-2025
- Health
- Korea Herald
How latest genetic data on fertility may be an indicator of chronic disease onset and longevity
SINGAPORE, May 2, 2025 /PRNewswire/ -- Latest population studies have cast new light on genetic influences on women's reproductive lifespans and possible markers for the onset of chronic diseases. Evidence is growing that conditions such as cardiovascular disease, type 2 diabetes, rheumatoid arthritis and neurodegenerative disorders are associated with reduced ovarian reserve, which refers to the number of healthy eggs remaining in a woman's ovaries as she ages. In contrast, extended ovarian function appears to correlate with general good health and the possibility that greater reproductive success is an indicator of longevity. The complex genetic interplay between the onset of menstruation and menopause came into sharp focus today at the 2025 Congress of the Asia Pacific Initiative on Reproduction (ASPIRE) in Singapore. In a keynote address to the Congress, Professor Joop Laven, a world expert in reproductive endocrinology and infertility, suggested reproductive lifespan was associated with "survival". He is the Professor of Reproductive Medicine at Erasmus Medical Centre, Rotterdam in The Netherlands, Past President of the Dutch Society of Reproductive Medicine, and a lead figure in Genome Wide Association Studies (GWAS). The GWAS project has identified about 290 genetic determinants of reproductive ageing in a huge cohort of about 500,000 women of European ancestry. In the project, Professor Laven has explored the genetic basis of hormonal conditions such as polycystic ovary syndrome (PCOS), along with premature ovarian insufficiency, menarche and menopause. At the ASPIRE Congress, Professor Laven said women with PCOS tended to have the most effective genetic variants for DNA repair providing a "genetic advantage" of fertility beyond the fourth decade of life, when most women have exhausted their natural supply of eggs. "Studies show PCOS women have better DNA repair and therefore produce better embryos at a later age compared to controls, and they have an extended reproductive life span," he explained. "Women with PCOS have issues getting pregnant earlier in life. This may reduce the total number of children they have so they do not have a negative trade-off that a high number of children might have. "Together with their longer lifespan this may represent an evolutionary advantage. Moreover, by having children later in life might reduce the incidence of PCOS in their offspring." Professor Laven said studies indicated that over time, the gradual accumulation of DNA damage results in the exhaustion of cell renewal capacity and dysfunction in affected organs, ultimately accelerating cell death, commonly referred to as ageing. "A similar erosion of the genome occurs within the ovaries," he said. "The extent of DNA maintenance and repair also seems to have a determining effect on susceptibility to conditions including diabetes, cardiovascular disease and neurodegenerative disorders, such as Alzheimer's disease." Professor Laven said sub-fertility should be monitored as it serves as a sensitive marker for susceptibility to these conditions highlighting the importance of patient follow up among those presenting for assisted reproduction. "This seems to be in contrast to what most assisted reproductive technology clinics do," he added. "In general, clinics only report live birth rates as success. "So, in many cases we are not following up our patients who may be susceptible to non-communicable diseases when we have the opportunity to develop preventive health strategies for them." The ASPIRE Congress at the Suntec Convention and Exhibition Centre in Singapore has brought together over 2,000 scientists, clinicians, nurses and counsellors for a program that will help shape the future of fertility health care in the region and around the world.
