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Dengue virus serotype 2 (DENV-2) is responsible for dengue epidemics on a global scale and is associated with severe cases of the disease. This study conducted a phylogenetic investigation of DENV-2 isolates from 2017 to 2021 originating from the northern states of Brazil. A total of 32 samples from DENV-2 isolates were analyzed, including 12 from Acre, 19 from Roraima, and one from Tocantins. Only one lineage of the Asian-American genotype and one lineage of the cosmopolitan genotype were observed: Lineage 1, Asian-American genotype (connection to Puerto Rico); Lineage 5, cosmopolitan genotype (connection to Peru). Our results provide important data regarding the study of DENV genotypes and lineage distribution and open up possibilities for probable introduction and dissemination routes.

Ecuador, a tropical country with frequent dengue outbreaks, including a surge from 16,017 cases in 2022 to 61,329 in 2024, was the focus of this study. The study was conducted in Borbon, a semi-urban rural town in the Esmeraldas province. Genomic analysis, alongside entomo-virological surveillance, provides valuable insights into DENV-2 genotypes. Five pools of female Aedes aegypti mosquitoes from Borbon tested positive for DENV serotype 2 through RT-qPCR. One positive pool (CT = 16.13) was sequenced using Illumina MiSeq, and genotyping was conducted via the Dengue Typing Tool and Maximum Likelihood phylogenetic tree. The genotype assigned was III Southern Asian-American. Comparison with other genomes revealed genetic similarity to a human dengue genome sequenced in 2021, also from Esmeraldas, clustering with genomes reported across the Americas, particularly from Colombia and Venezuela. This study enhances our understanding of dengue virus epidemiology in rural areas, emphasizing the critical role of clinical case surveillance and vector monitoring in guiding evidence-based interventions.

Fetal growth is an important determinant of cardiometabolic disease risk during childhood and adulthood. The genetic architecture of fetal growth remains largely understudied in ancestrally diverse populations. We conducted genome-wide admixture mapping scan and analysis of genetic ancestry among Hispanic American, African American, European American, and Asian American pregnant women to identify genetic loci associated with fetal growth measures across 13–40 weeks gestation. Fetal growth measures were associated with genome-wide average African, European, Amerindigenous and East Asian ancestry proportions (P ranged from10−3 to 4.8 × 10–2). Admixture mapping analysis identified ten African ancestry loci and three Amerindigenous ancestry loci significantly associated with fetal growth measures at Bonferroni-corrected levels of significance (P ranged from 2.18 × 10–8 to 3.71 × 10–6). At the chr2q23.3–24.2 locus in which higher African ancestry was associated with long bone (femur and humerus) lengths, the T allele of rs13030825 (GALNT13) was associated with longer humerus length in African Americans (β = 0.44, P = 6.25 × 10–6 at week 27; β = 0.39, P = 7.72 × 10–5 at week 40). The rs13030825 SNP accounted for most of the admixture association at the chr2q23.3–24.2 locus and has substantial allele frequency difference between African and European reference samples (FST = 0.55, P = 0.03). Regulatory annotation shows that rs13030825 overlaps with the serum response factor (SRF) transcription factor previously implicated in postnatal bone development of mice. Overall, we identified ancestry-related maternal genetic loci that influence fetal growth, shedding light on molecular pathways that regulate fetal growth and potential effects on health across the lifespan.Clinical trials registration ClinicalTrials.gov, NCT00912132.

Background: In 2007, Australia introduced a national human papillomavirus (HPV) vaccination program. In 2017, the onset of cervical screening changed from 18 to 25 years of age, utilising human papillomavirus (HPV) nucleic acid testing. The objective of the study is to describe the HPV genotypes and HPV16 variants in biopsies from women ≤ 25 years of age with cervical carcinoma (CC) (cases), compared with those aged >25 years (controls), in a pre-vaccination cohort. Methods: HPV genotyping of archival paraffin blocks (n = 96) was performed using the INNO-LiPA HPV Genotyping assay. HPV16-positive samples were analysed for variants by type-specific PCR spanning L1, E2 and E6 regions. Results: HPV16 was the commonest genotype in cases (54.5%, 12/22) and controls (66.7%, 46/69) (p = 0.30), followed by HPV18 (36.3%, 8/22 vs. 17.3% 12/69, respectively) (p = 0.08). Furthermore, 90% (20/22) of cases and 84.1% (58/69) of controls were positive for HPV16 or 18 (p = 0.42); 100% (22/22) of cases and 95.7% (66/69) of controls had at least one genotype targeted by the nonavalent vaccine (p = 0.3). The majority of HPV16 variants (87.3%, 48/55) were of European lineage. The proportion of unique nucleotide substitutions was significantly higher in cases (83.3%, 10/12) compared with controls (34.1%, 15/44), (p < 0.003, χ2, OR 9.7, 95%CI 1.7–97.7). Conclusions: Virological factors may account for the differences in CCs observed in younger compared with older women. All CCs in young women in this study had preventable 9vHPV types, which is important messaging for health provider adherence to new cervical screening guidelines.

Dengue is a mosquito-borne disease caused by four closely related dengue virus (genus Flavivirus) serotypes (DENV-1—4). The clinical outcomes vary from mild febrile illness to life-threatening haemorrhagic manifestations. DENVs are endemic in the tropics and subtropics globally and currently no specific treatment or vaccines are available. In Venezuela, the American-Asian genotype of DENV-2 is the most prevalent and has been associated with severe disease outcomes. We aimed to follow-up the molecular epidemiology of DENV-2 in Venezuela to investigate if the evolution of the virus has remained the same throughout time or if the same dynamics documented in Brazil (hyperendemic co-circulation) also occurred. The results show that whereas the epidemiology of DENV in several endemic areas is characterized by serotype replacements through time, in Venezuela the American-Asian genotype DENV-2 has evolved into several genetic lineages and has remained in hyperendemic co-circulation with the other serotypes.

Using Oxford Nanopore technologies and phylogenetic analyses, we sequenced and identified the cosmopolitan genotype of dengue virus serotype 2 isolated from 2 patients in the city of Villavicencio, Meta department, Colombia. This identification suggests the emergence of this genotype in the country, which warrants further surveillance to identify its epidemic potential.

This study shows that for variants initially classified as pathogenic that were later reclassified as benign, the misclassification would have been prevented had racially diverse populations been considered in the original studies of the variants. Although hypertrophic cardiomyopathy is best known as a fatal disease of young athletes, it causes considerable morbidity and mortality among patients of all ages and lifestyles. 1 , 2 The defining feature of hypertrophic cardiomyopathy is unexplained left ventricular hypertrophy, but its clinical presentation is variable; it can manifest as severe heart failure in some patients yet be asymptomatic in others. 3 In more than one third of patients, causal genetic lesions are identified, which enables clinicians to assess risk among the patient’s relatives 4 and, in rare circumstances, to tailor therapy for a patient who is found to have a tractable disorder, such . . .

Dengue is the most prevalent mosquito-borne viral disease worldwide and constitutes a major public health concern in Colombia. The disease is caused by four antigenically distinct dengue virus serotypes (DENV-1 to DENV-4), which share more than 65% genome identity. Although all four serotypes co-circulate in Colombia, secondary infections with DENV-2 have frequently been associated with more severe clinical outcomes. DENV-2 comprises six genotypes, of which genotype III has been the dominant lineage in the Americas over the past two decades. In this study, we investigated the evolutionary dynamics of DENV-2 genotype III in Colombia by analyzing available whole-genome coding sequences together with twenty-six newly generated genomes. Bayesian and maximum-likelihood phylogenetic approaches were applied to infer evolutionary relationships and temporal patterns. To harmonize lineage definitions and facilitate regional comparisons, we adopted the recently proposed hierarchical lineage nomenclature and used the Genome Detective Dengue typing tool for automated classification and consolidation of sequences from Colombia, Ecuador, and Venezuela. Phylogenetic analyses revealed a broadly distributed major lineage (previously designated D) circulating across the three countries, together with ongoing diversification and repeated introductions of genotype III within Colombia. Four minor lineages were identified, designated D.2.1, D.2.2, D.3.1, and D.3.2. Notably, the diversification of these minor lineages was accompanied by multiple non-synonymous substitutions. In particular, the two lineages currently circulating in Colombia, D.2.1 and D.2.2, are distinguished by approximately 20 mutations; however, the functional implications of these substitutions for viral virulence, pathogenicity, or vector competence remain unknown. These findings support the need for sustained and targeted genomic surveillance to detect and monitor emerging dengue virus lineages, prioritize them for epidemiological follow-up, and inform geographically focused public-health strategies. Overall, this study highlights the value of a globalized nomenclature, which enables the integration of genomic data across countries, facilitates the identification of emerging lineages in the region, and supports molecular surveillance efforts aimed at assessing their potential impact on disease presentation and public health.

Apolipoprotein E ε4 allele (APOE‐ε4) carriership varied across Asian American and non‐Latino White groups. The association of APOE‐ε4 carriership and dementia risk was similar across groups. Estimated population attributable risk varied by group due to APOE‐ε4 carriership.

Impaired glucose tolerance is a major risk factor for type 2 diabetes (T2D) and several cardiometabolic disorders. To identify genetic loci underlying fasting glucose levels, we conducted an analysis of 9,232 individuals of European ancestry who at enrollment were either nondiabetic or had untreated type 2 diabetes. Multivariable linear mixed models were used to test for associations between fasting glucose and 7.9 million SNPs, with adjustment for age, body mass index (BMI), sex, significant principal components of the genotypes, and cryptic relatedness. Three previously discovered loci were genome-wide significant, with the lead SNPs being rs1260326, a missense variant in GCKR ( p = 1.06×10 −8 ); rs560887, an intronic variant in G6PC2 ( p = 3.39×10 −11 ); and rs13266634, a missense variant in SLC30A8 ( p = 4.28×10 −10 ). Fine mapping, genome-wide conditional analysis, and functional annotation indicated that the three loci were independently associated with fasting glucose. Each copy of an alternate allele at any of these three SNPs was associated with a reduction of 0.012 mmol/L in fasting glucose levels ( p = 8.0×10 −28 ), and this association was replicated in trans-ethnic analysis of 14,303 individuals ( p = 2.2×10 −16 ). The three SNPs were jointly associated with significantly reduced T2D risk, with an odds ratio (95% CI) of 0.93 (0.88, 0.98) per protective allele. Our findings implicate additive effects across pathophysiological pathways involved in type 2 diabetes, including glycolysis, gluconeogenesis, and insulin secretion. Since none of the individuals homozygous for the alternate alleles at all three loci has T2D, it might be possible to use a genetic predictor of fasting glucose levels to identify individuals at low vs . high risk of developing type 2 diabetes.