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At least 19 recordsLinked to original sources

PubMed2026

Genomic reconstruction of the Pakistani Roma reveals dual South Asian ancestry, medieval bottlenecks, and the early dispersal routes of the Romani people.

The Roma people represent one of the largest and most historically enigmatic diasporas in Eurasia, illuminating human migration patterns and cultural resilience across continents. Despite extensive research on European Roma as the diaspora endpoint, the genetic legacy of their putative South Asian source populations remains critically underexplored, leaving fundamental gaps in understanding the pre-diaspora demographic structure and early dispersal dynamics. This study uniquely positions Pakistani Roma as a potential ancestral reservoir, offering a rare window into the pre-migration phase distinct from derived European Roma populations shaped by centuries of post-dispersal admixture. We analyze 82 Pakistani Roma from Punjab using high-resolution genome-wide SNP data and comprehensive mitochondrial haplogroup profiling to reconstruct their genetic origins, population structure, and historical trajectory. Analyses reveal a dual ancestry profile comprising 50-82% Indus Valley related, 20-30% Onge related, and up to 26% Steppe derived components, with three distinct subgroups exhibiting varying affinities along a South Asian to Central Western Eurasian continuum reflecting jati-like endogamy. A severe demographic bottleneck ~800 years ago coincides with medieval socio-political upheavals, while major Eurasian admixture is dated to ~660 years ago. Mitochondrial haplogroups H (45.12%) and M (26.83%) underscore dual maternal influences from West and South Eurasia. Pakistani Roma retain substantially higher South Asian ancestry than their European counterparts, establishing them as a genetically distinct population preserving the ancestral pre-diaspora state. These findings redefine the Romani origin narrative and underscore the critical value of understudied South Asian minorities in reconstructing complex human migration pathways and diaspora formation mechanisms.

Humans↗

PubMed2025

Validation of a genome-wide polygenic score for body mass index in South Asians.

Obesity is a complex disorder, manifested by the interaction of inherited and environmental factors and modulated by a person's lifestyle habits. India has witnessed more than a two-fold increase in the number of overweight adults in the last 30 years. The polygenic risk score (PRS) quantitatively measures an individual's risk for common diseases. The PRS for obesity have been validated in the Caucasian population but not in the South Asian (SAS) population. In this study, we benchmarked and validated the existing genome-wide PRS model of obesity with 2.1 million variants in the SAS population. We analyzed a total of 14,263 individuals from three different South Asian cohorts. We compared the risk score with the body mass index (BMI) categories (underweight, normal weight, overweight, and obese) in all three cohorts. High PRS was associated with increased BMI in all the three cohorts. This study also compared validation results from another population-specific PRS model for the BMI. We conclude that high PRS is associated with high BMI in South Asians. Our study suggests that the PRS score can perhaps be an early predictor of overweight and obesity in the South Asian population.

South Asian↗

PubMed2026

Immunogenetic diversity of two South Asian cohorts: From Pakistan and India.

Having critical roles in immune defense and reproduction, killer cell immunoglobulin-like receptors (KIR) and their human leukocyte antigen (HLA) class I ligands are encoded by the most polymorphic regions in the human genome. South Asia comprises over one quarter of the global population and harbors rich genomic diversity. Limiting our understanding of population-specific variation and disease susceptibility, high-resolution immunogenetic studies of South Asian ancestry individuals are lacking. Here, we characterize KIR and HLA class I diversity in two South Asian cohorts: sampling an urban population from Karachi, Pakistan (n = 79), and a Dravidian-speaking Yadav population from southern India (n = 70). Targeted sequencing identified 151 distinct KIR alleles across 13 genes, including 11 previously uncharacterized allotypes. Over 75% of the genotypes were KIR-Bx. We identified 98 HLA class I alleles and extensive haplotypic diversity, with all major KIR binding motifs represented, and a mean of seven potential inhibitory KIR-HLA interactions per individual (6.6 in Karachi, 7.4 in Yadav). Together, these results demonstrate substantial immunogenetic diversity and population-specific KIR and HLA variation within the two studied cohorts. This study expands knowledge of KIR and HLA diversity and offers a framework for further evolutionary and disease-focused in South Asia.

Humans↗

PubMed2026

Characteristics of post-exercise responders versus non-responders following aerobic or isometric exercise in physically inactive adults of African and South Asian descent with high-normal blood pressure or grade I hypertension.

OBJECTIVE: To investigate interindividual variability in post-exercise hypotension (PEH) and to characterise cardiovascular and autonomic differences between responders and non-responders following aerobic and isometric exercise in adults of African and South Asian descent with elevated blood pressure (BP). METHODS: Physically inactive adults of African and South Asian descent living in Suriname (18-65 years) with high-normal BP or grade I hypertension participated in a randomised controlled crossover trial. In this randomised cross-over trial, 47 adults (50.1 ± 10.8 years; 38% male) with high-normal blood pressure or grade I hypertension completed three conditions: aerobic exercise (30 min at 40-60% heart rate reserve), isometric handgrip exercise, and a non-exercise control. Ambulatory BP was assessed over 24 h. PEH was defined as the net effect: (post-exercise - pre-exercise) - (post-control - pre-control). Participants were classified as responders if daytime BP decreased ≥5 mmHg. Arterial stiffness, cardiac, and autonomic parameters were assessed. RESULTS: Following aerobic exercise, 46% of participants were classified as systolic responders compared with 28% after isometric exercise. No baseline differences were observed in demographic or clinical characteristics between responders and non-responders, suggesting that PEH variability may reflect underlying physiological rather than clinical differences. Aerobic responders demonstrated greater reductions in aortic augmentation index (-19.4% vs. -10.9%, p = 0.05), larger increases in stroke volume (+8.1 vs. -5.3 mL, p = 0.05) and cardiac output (+1.54 ± 1.89 vs. +0.58 ± 1.60 L/min, p = 0.009), and more favourable autonomic recovery. Among all variables, only the change in cardiac output was associated with PEH magnitude (r = -0.46, p = 0.006). No consistent physiological differences were observed following isometric exercise. CONCLUSION: PEH following aerobic exercise is characterised by a distinct responder phenotype associated with greater reductions in aortic augmentation index and favourable cardiac adaptations. These findings highlight substantial interindividual variability in BP responses and support the need for individualised exercise strategies in hypertension management.

Adolescent↗

PubMed2026

Culturally adapted post-diagnostic dementia support for South Asian people living with dementia and caregivers: a rapid review.

BACKGROUND: The number of minority ethnic people living with dementia (PLWD) in the UK is predicted to rise to 50 000 by 2026 and 172 000 by 2051. As the global population ages, there is a greater need to develop culturally appropriate post-diagnostic support for PLWD from minority ethnic backgrounds. METHODS: A rapid review was conducted of culturally adapted post-diagnostic dementia support for South Asian people with dementia and carers. Eight electronic databases were searched from inception until 16 September 2025. Databases included Cumulative Index to Nursing and Allied Health Literature, Excerpta Medica Database, MEDical Literature Analysis and Retrieval System Online, Psychological Information, Turning Research Into Practice, Allied and Complementary Medicine Database, Social Policy and Practice and the Cochrane Database of Systematic Reviews. Two reviewers independently screened the studies. Consistent with rapid review methods, no formal quality assessment of included studies was undertaken. The rapid review adhered to Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines. RESULTS: Twelve studies were included. These included seven carer support programmes focusing on raising awareness and education on dementia and care. These interventions increased carers' knowledge of dementia and confidence in caregiving. Four studies reported on psychosocial interventions: Cognitive Stimulation Therapy, Cognitive Behaviour Therapy and Meditation Therapy, demonstrating benefits for caregiver burden and mental health. One study reported on service-level innovations through a South Asian link nurse, which improved access to services and facilitated the development of culturally appropriate information materials. CONCLUSION: The findings of this rapid review demonstrate the feasibility and perceived value of culturally sensitive psychoeducation, carer training and psychosocial interventions. However, research remains small-scale, methodologically limited, with little focus given to interventions directly supporting PLWD.

Humans↗

PubMed2026

Survey to inform personalised prescribing in a British South Asian community: pharmacogenomics and traditional medicine use.

BACKGROUND: Pharmacogenomics (PGx) uses genetic information to personalize medication, reducing adverse reactions and improving efficacy. Despite its promise, low public awareness and disparities in PGx acceptability among under-represented groups may exacerbate health inequalities. The objective of this study was to elucidate a British South Asian community's attitudes toward personalised prescribing. METHODS: Adults of Bangladeshi or Pakistani ancestry from the Genes & Health (G&H) study completed a survey. Community feedback guided theme prioritization. Multivariable logistic regression analyses (controlling for age and gender) explored relationships among survey variables, and case-control Genome Wide Association Studies (GWAS) and candidate variant enrichment analysis examined the genetic architecture underlying herbal remedy use. RESULTS: Out of 553 respondents (57% female, mostly aged 25-54), 72% reported medication inefficacy, and 54% experienced side effects. Herbal remedies were widely used (66%), notably Black seed (39%), Turmeric (37%), and Ginger (36%). Participants who reported not using traditional or herbal medicines had higher medication adherence MARS-5 scores (Odds Ratio (OR) 1.10, 95% Confidence Interval (CI) 1.05-1.16, p < 0.0002). All three commonly used herbal remedies inhibit the pharmacogenomically variable CYP2C9 enzyme responsible for metabolising commonly used medications. 58% of respondents were willing to provide DNA samples for PGx testing, yet 70% agreed that they would be more likely to take medication as instructed if PGx results suggested the medicine would suit them. Concerns about PGx testing were common (27%), especially among non-English speakers. Most (69%) were concerned about misuse of PGx data, particularly by pharmaceutical companies (82%). Importantly, 87% demanded stronger PGx data protections compared to other health data. CONCLUSIONS: Compared to a national UK population, the surveyed subpopulation reported higher rates of adverse drug reactions (ADRs) and perceived medication inefficacy, yet fewer respondents indicated willingness to undergo PGx testing. This highlights the need for tailored implementation strategies and underscores the importance of engaging underrepresented populations in policy development. The inverse relationship between medication adherence and herbal remedy use indicates an association between cultural health practices and medication behaviours that merits further investigation. Increased awareness of the common use of these CYP2C9 inhibitors and further research into the genetic architecture underlying herbal remedy use are warranted.

Humans↗

PubMed2026

Microplastic contamination in South Asian commercially important seafood: A comprehensive assessment of occurrence, source, and human health risk.

Seafood is a cornerstone of global food security and human nutrition, serving as the primary source of animal protein for more than one-fourth of the global population, with South Asia representing one of the world's fastest-growing seafood-consuming regions. However, escalating microplastic (MP) pollution in marine ecosystems poses an emerging threat to seafood safety and human health, yet a comprehensive regional assessment of MP contamination in South Asian seafood remains lacking. This study presents the first region-wide systematic synthesis of the literature on MP contamination in commercially important seafood across South Asia, integrating occurrence patterns, human exposure assessment, polymer-specific hazard evaluation, and bibliometric analysis to address this critical knowledge gap. The meta-analysis estimated an average microplastic exposure of 145 particles/person/day through seafood consumption in South Asia, with fish contributing the highest intake (121 particles/person/day). The detected polymers were classified into PHI hazard levels I-IV, with polyvinyl chloride (PVC), polyurethane (PU), and polyacrylamide (PAM) representing the highest hazard categories. The mean pollution load index (PLI) was 7.71 (Category I), with crustaceans exhibiting the highest contamination (PLI = 10.07). Polypropylene was the predominant polymer, whereas fragments and blue particles were the most frequently reported microplastic characteristics. These findings provide the first regional baseline for assessing microplastic contamination, polymer-associated hazards, and human exposure through seafood consumption in South Asia, underscoring the need for standardized monitoring and targeted mitigation strategies to safeguard seafood safety and public health.

Animals↗

PubMed2025

Biochemical and Genomic Underpinnings of Carotenoid Colour Variation Across a Hybrid Zone Between South Asian Flameback Woodpeckers.

Colouration and patterning have been implicated in lineage diversification across various taxa, as colour traits are heavily influenced by sexual and natural selection. Investigating the biochemical and genomic foundations of these traits therefore provides deeper insights into the interplay between genetics, ecology and social interactions in shaping the diversity of life. In this study, we assessed the pigment chemistries and genomic underpinnings of carotenoid colour variation in naturally hybridising Dinopium flamebacks in tropical South Asia. We employed reflectance spectrometric analysis to quantify species-specific plumage colouration, High-Performance Liquid Chromatography (HPLC) to elucidate the feather carotenoids of flamebacks across the hybrid zone, and Genome-Wide Association Study (GWAS) using next-generation sequencing data to uncover the genetic factors underlying carotenoid colour variation in flamebacks. Our analysis revealed that the red mantle feathers of D. psarodes primarily contained astaxanthin, with small amounts of other 4-keto-carotenoids. In contrast, the yellow mantle feathers of D. benghalense predominantly contained lutein and 3'-dehydro-lutein, alongside minor amounts of zeaxanthin, β-cryptoxanthin and canary-xanthophylls A and B. Hybrids with an intermediate, orange colouration deposited all of these pigments in their mantle feathers, with notably higher concentrations of carotenoids with ε-end rings. The GWAS analysis identified the CYP2J2 gene, which plays a role in carotenoid ketolation, as associated with the expression of carotenoid colouration. Read depth data suggested variation in copy number of this gene in flamebacks. These findings contribute to the growing knowledge of avian carotenoid metabolism and highlight how genomic architecture can influence phenotypic diversity.

Animals↗

PubMed2025

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: A comprehensive review of cases across different ethnicities.

OBJECTIVES: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is an autoinflammatory disease associated with somatic mutations in the UBA1 gene. Although the disease has been described in many different countries, no studies have investigated the origin of patients to determine if the disease is universal across ancestries. The aim of this study is to investigate the distribution of VEXAS syndrome across continents and ethnicities. METHODS: A literature review of all reported cases of VEXAS syndrome was conducted between October 2020 and April 2025 using the term 'VEXAS' with the all-field filter in the Pubmed and Web of Science databases. Epidemiological and clinical data were collected for included patients. If the country of origin was not described, it was assumed to be the same as the country of clinical evaluation. A subgroup analysis was performed for patients whose country of origin or ethnicity was documented by the authors. RESULTS: 674 cases of VEXAS syndrome were collected, with patients described from four continents and 32 countries. Considering the subgroup of patients with documented country of origin, 451 patients were from four continents and 19 countries. Of these, ethnicity was recorded for 372 patients with the presence of Caucasian, Central or East Asian, South Asian, Middle Eastern, Central American and South American ethnicities. CONCLUSION: The results support a broad global distribution of the disease and highlight the importance of investigating the disease regardless of the patient's origin and ethnicity in cases of compatible symptoms.

Humans↗

PubMed2026

Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.

Autism spectrum disorder (ASD; MIM 209850) is reported to vary globally from 0.01% in East Asian populations to 4.36% in certain Australian cohorts. Despite high heritability estimates (61-94%), the genetic architecture underlying ASD susceptibility remains poorly characterized across diverse populations, as most genomic studies have initially focused on individuals of European ancestry. To investigate ancestry-specific genetic contributions to ASD, we analyzed whole-genome sequencing data from three independent ASD cohorts. We identified admixed ASD probands (n = 1 033) and ancestry-matched controls (n = 1 033) and performed admixture mapping (AM). AM using five continental reference populations (European, African, East Asian, South Asian, and Native American) identified five ancestry-specific ASD-susceptibility loci, including one African-related locus at 1p21.2 near S1PR1 and four Native American-associated loci at chromosome 11q13.4. Three of these latter loci were contiguous and encompassed genes previously implicated in ASD, notably SHANK2 and DHCR7, with fine-mapping identifying a significantly associated variant between the two genes (rs77695321; P = 1.52 × 10⁻⁷). The fourth Native American-associated signal at 11q13.4 overlapped the folate receptor genes FOLR1 and FOLR3, with fine-mapping identifying a genome-wide significant variant (rs7950807; P = 5.21 × 10⁻⁸). A secondary admixture mapping analysis restricted to Latin American individuals, incorporating 6 487 Brazilian controls, identified 16 additional ancestry-specific loci across seven genomic regions.

Journal Article↗

PubMed2026

TL-HDMR: a transfer learning framework for advancing equitable causal inference reveals metabolic signatures of stroke across multiple ancestries.

The limited genetic diversity in genome-wide association studies (GWAS) poses a significant challenge to the generalizability and equity of biomedical discoveries. Most causal inferences, particularly from high-dimensional phenomes (e.g. metabolomics), are primarily based on European populations, and their applicability to other ancestries remains uncertain. Traditional multivariable Mendelian randomization (MVMR) methods further struggle in high-dimensional and correlated settings due to collinearity and model instability. To bridge this gap, we present a two-step transfer learning framework for high-dimensional MR (TL-HDMR), designed to enhance causal exposure detection in understudied populations. Our approach leverages the Minimax Concave Penalty for asymptotically unbiased estimation amidst exposure correlations. Crucially, we introduce two novel pre-transfer procedures-HDMR.TSD for sourcing beneficial data and HDMR.PRESSO for filtering pleiotropic instruments-to ensure robust knowledge transfer. Extensive simulations demonstrated TL-HDMR's superior performance in ROC curves and mean absolute error over alternative methods. When applied to identify causal metabolites for stroke across multi-ancestry cohorts (European, East Asian, South Asian, and African), TL-HDMR successfully pinpointed both shared and ethnic-specific causal biomarkers, showcasing its unique capability for equitable causal inference. This work provides a powerful statistical tool that not only addresses critical methodological challenges but also promotes inclusivity and fairness in human health research.

Humans↗

PubMed1979

A comparative study of Asian FMG and USMG psychiatrists.

Of 367 East Asian and South Asian psychiatrists responding to a 1976 survey, 295 were identified as foreign medical graduates (FMGs) and 72 as U.S. medical graduates. Comparison of the two groups showed that the FMG'S WERE MORE LIKEly to be trained and employed in state mental hospitals and other nonacademic settings and to treat patients of other minorities. The Asian FMGs were less likely to have specialty board certification, a finding that seems to reflect their incomplete professional development and American acculturation. The authors conclude that Asian FMG psychiatrists shoulder much of the responsibility for treating minority patients in the United States, a job for which they may be ill equipped. Their need for special training in both cultural and professional areas is emphasized.

Asia, Southeastern↗

PubMed2026

A multi-ancestry polygenic risk score for body mass index predicts longitudinal weight change.

BACKGROUND: Identifying individuals at risk for future weight gain is challenging, partly because associations with traditional clinical risk factors may be biased by confounding and reverse causation. Polygenic risk scores (PRS) provide a stable, lifelong measure of genetic predisposition to obesity. However, existing PRS have not been evaluated for their association with longitudinal weight change in adulthood and often lack generalizability across diverse genetic ancestry groups. METHODS: We conducted ancestry-specific genome-wide association study meta-analyses of body mass index (BMI) in populations of European, African or African American, Admixed American, East Asian, and South Asian ancestries and developed ancestry-specific PRS. A multi-ancestry polygenic risk score (MAPRS) was trained using ancestry-specific PRS in a model selection dataset (N = 39,685) from the All of Us Research Program (AoU). We evaluated the MAPRS in an independent AoU model evaluation dataset (N = 158,743) for BMI prediction and in a separate AoU test dataset (N = 78,219) with repeated measurements over 1.5-2.5 years for weight change prediction. The outcomes included change in BMI and ≥ 10% or ≥ 5% total body weight (TBW) gain. We further examined the relationship between MAPRS and 12 clinical risk factors commonly comorbid with obesity in relation to weight change. RESULTS: The MAPRS captured 7.05% of the variance in measured BMI in the AoU model evaluation dataset and demonstrated improved generalizability across all non-European genetic ancestry groups. In the AoU test dataset, conditioned on baseline BMI at the second-to-last measurement, a one SD increase in MAPRS was associated with a 0.16 kg/m2 increase in future BMI (standard error = 0.012 kg/m2; p-value = 2.2 × 10-39), 1.27-fold increased odds of experiencing ≥ 10% TBW gain (95% CI: 1.24-1.31; p-value = 1.4 × 10-55), and 1.15-fold increased odds of experiencing ≥ 5% TBW gain (95% CI: 1.13-1.18; p-value = 2.8 × 10-39). These associations were observed across all genetic ancestry groups and remained highly consistent after adjustment for any clinical risk factor. In contrast, most clinical risk factors demonstrated inconsistent or weaker associations with weight change outcomes. CONCLUSIONS: We developed an MAPRS for BMI that represents a robust and generalizable risk factor for longitudinal weight gain in adulthood, providing a foundation for genetically informed risk stratification and earlier, more targeted obesity prevention strategies.

Humans↗

PubMed1978

Iron absorption from South-East Asian diets and the effect of iron fortification.

The increase in iron absorption was measured when different amounts of ferrous sulphate were added to rice-based South-East Asian meals. The study comprised 158 subjects--118 women and 40 men. Iron fortification of simple meals composed of rice, boiled vegetables, and a curry to a level of 5 mg of iron per meal increased the absorption by about 0.2 to 0.3 mg of iron per meal. The additionof fish to such a meal doubled the absorption increase at a fortification level of 5 mg per meal. This absorption increase was about the same as obtained with composite western-type meals containing fish or meat. The results indicate that iron fortification programs may be effective in countries with rice-based diets provided that there is a suitable vehicle available for fortification.

Absorption↗

PubMed2026

Improving the reliability of polygenic risk score-based prediction for cardiovascular and renal complications across ancestries in type 2 diabetes using Mondrian Cross-Conformal Prediction.

Polygenic risk scores (PRS) developed in European populations often show reduced predictive performance in non-European populations, limiting their clinical utility. This lack of transferability across ancestries remains a major challenge in genomic medicine and raises concerns about health equity. We aimed to evaluate whether uncertainty-aware prediction, implemented through Mondrian Cross-Conformal Prediction, improves the performance and reliability of polygenic risk score-based predictions across ancestries for nephropathy, stroke, and myocardial infarction in individuals with type 2 diabetes in a multi-ethnic cohort. We leveraged Mondrian Cross-Conformal Prediction (MCCP), an uncertainty quantification framework, combined with logistic regression applied to a multi-polygenic risk score (multiPRS) to predict the risk of nephropathy, stroke, and myocardial infarction in individuals with type 2 diabetes. Two training frameworks were evaluated: one using 4,098 individuals with type 2 diabetes of European ancestry from the ADVANCE trial for training and 17,574 White British, 1,145 South Asian, and 749 African UK Biobank participants for testing; and another using the 17,574 White British UK Biobank participants for training and the South Asian and African participants for testing. Logistic regression provided robust baseline performance across populations. On top of this baseline, MCCP did not improve performance but added capabilities absent from probability-based stratification: for each individual, it issued a prediction together with an explicit confidence and credibility level; it allowed a tolerated error level to be set in advance and delivered prediction sets respecting it in the majority of settings; and it flagged individuals for whom no reliable prediction could be made. Applying MCCP to PRS-based prediction thus enables uncertainty-aware risk stratification and improves the reliability of risk prediction across ancestries, providing a more equitable framework for clinical use.

Female↗

PubMed2026

Pharmacogenomic diversity in Amazonian Indigenous populations: implications for Berlin-Frankfurt-Münster acute lymphoblastic leukemia therapy.

PURPOSE: This study aimed to characterize pharmacogenomic variation in genes involved in the metabolism and transport of drugs used in Berlin-Frankfurt-Münster-based therapy in Amazonian Indigenous individuals and to compare allele frequencies with major continental populations. METHODS/PATIENTS: Whole-exome sequencing data previously generated from 64 healthy Indigenous individuals from 12 Amazonian ethnic groups were analyzed. A total of 120 genes associated with drugs used in Berlin-Frankfurt-Münster protocols were selected. Variants were annotated and filtered using bioinformatic quality-control criteria, and allele frequencies were compared with African, Admixed American, East Asian, European, and South Asian populations from the 1000 Genomes Project. Multidimensional scaling was used to assess population-level genetic similarity. RESULTS: After quality control, 648 variants were identified. Twenty-eight variants were observed exclusively in the Indigenous study population, including four nonsynonymous coding variants with moderate predicted impact. Significant allele-frequency differences were observed for ADA rs11555566, CBR3 rs881711, and CYP2B6 rs3745274; rs881711 and rs3745274 differed from all five reference populations. Multidimensional scaling showed a distinct Indigenous pharmacogenomic profile, with greater similarity to the Admixed American population. CONCLUSIONS: Amazonian Indigenous populations exhibit substantial pharmacogenomic diversity in genes relevant to Berlin-Frankfurt-Münster-based therapy. These findings identify candidate variants for functional and clinical validation and reinforce the importance of including underrepresented populations in pharmacogenomic research.

Acute lymphoblastic leukemia↗

PubMedDate not supplied

Serological and virological investigations fo orthomyxovirus in birds in South-East Asian area.

We have previously reported that some species of migrating ducks (pintail, mallard, widgeon and falcated teal) possess in their sera antibodies against H antigens of human or avian influenza viruses. Such findings have also been reported from other workers, and the appearance of new types of influenza viruses accompanied by outbreaks of new influenza pandemics, or circulation of influenza virus antigens in animals, birds and humans have been discussed on the basis of such findings. Recently a number of orthomyxoviruses have been isolated from wild birds such as myna, banded parakeets, etc. imported from India and some areas of South-East Asia. Some of them have H antigens not recognized previously, and some are found to have more or less common reactions with human H3 antigen, and consequently antigens Hav 7 and Heq 2, which are known to show cross-reaction with H3. The significance of such a fact in connection with the appearance of a new influenza pandemic is discussed.

Animals↗

PubMed2025

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.

IMPORTANCE: Understanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) could contribute to developing gene-targeted therapies. OBJECTIVE: To investigate associations between demographic data and age at first keratoplasty in a genetically refined FECD cohort. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study recruited 894 individuals with FECD at Moorfields Eye Hospital (London) and General University Hospital (Prague) from September 2009 to July 2023. Ancestry was inferred from genome-wide single nucleotide polymorphism array data. CTG18.1 status was determined by short tandem repeat and/or triplet-primed polymerase chain reaction. One or more expanded alleles (≥50 repeats) were classified as expansion-positive (Exp+). Expansion-negative (Exp-) cases were exome sequenced. MAIN OUTCOMES AND MEASURES: Association between variants in FECD-associated genes, demographic data, and age at first keratoplasty. RESULTS: Within the total cohort (n = 894), 77.3% of patients were Exp+. Most European (668 of 829 [80.6%]) and South Asian (14 of 22 [63.6%]) patients were Exp+. The percentage of female patients was higher (151 [74.4%]) in the Exp- cohort compared to the Exp+ cohort (395 [57.2%]; difference, 17.2%; 95% CI, 10.1%-24.3%; P < .001). The median (IQR) age at first keratoplasty of the Exp + patients (68.2 years [63.2-73.6]) was older than the Exp- patients (61.3 years [52.6-70.4]; difference, 6.5 years; 95% CI, 3.4-9.7; P < .001). The CTG18.1 repeat length of the largest expanded allele within the Exp+ group was inversely correlated with the age at first keratoplasty (β, -0.087; 95% CI, -0.162 to -0.012; P = .02). The ratio of biallelic to monoallelic expanded alleles was higher in the FECD cohort (1:14) compared to an unaffected control group (1:94; P < .001), indicating that 2 Exp+ alleles were associated with increased disease penetrance compared with 1 expansion. Potentially pathogenic variants (minor allele frequency, <0.01; combined annotation dependent depletion, >15) were only identified in FECD-associated genes in 13 Exp- individuals (10.1%). CONCLUSIONS AND RELEVANCE: In this multicenter cohort study among individuals with FECD, CTG18.1 expansions were present in most European and South Asian patients, while CTG18.1 repeat length and zygosity status were associated with modifications in disease severity and penetrance. Known disease-associated genes accounted for only a minority of Exp- cases, with unknown risk factors associated with disease in the rest of this subgroup. These data may have implications for future FECD gene-targeted therapy development.

Adult↗