Associations of TNFRSF10A with Central Serous Chorioretinopathy, Polypoidal Choroidal Vasculopathy, and Age-Related Macular Degeneration

Association between ADAM33 gene polymorphisms and asthma in the Zhuang population of China.

Identification and fine mapping of a major QTL, qGPC4D, for grain protein content using wheat–Aegilopstauschii introgression lines

Core germplasm construction of tea plant populations based on genome-wide SNP and catechins in Shaanxi Province, China

BDNF Val66Met polymorphism is linked to elevated levels of serotonin-transporter in the medial prefrontal cortex but not to altered eating behavior.

Black spot disease is a significant disease during the growth period of pear trees. The species and pathogenicity of Alternaria fungi causing black spot disease in Anhui Province are still unclear. In this study, through phylogenetic analysis of multi-gene tandem sequences, pathogens causing pear black spot disease (PBS) in Anhui Province were identified, primarily Alternaria alternata, Alternaria gaisen and Alternaria tenuissima, with A. alternata being the dominant species (41.18%). The single nucleotide polymorphism (SNP) density of Alt a1 was much higher than that of other genes, and the codon bias was affected by both natural selection and mutation. The codon bias and the amino acid ratio of Alt a1 in A. alternata and A. gaisen were highly consistent, and A. tenuissima was quite different from them. The pathogenicity of A. alternata was significantly negatively correlated with the daily mycelia growth rate, dry weight of mycelia and alternariol production, and significantly positively correlated with tenuazonic acid (TeA) and tentoxin production. TeA might be the main virulence factor in the pathogenic process of A. alternata. This study presents novel ideas for classifying Alternaria fungi and provides a theoretical basis for establishing prevention and control technologies for PBS control and toxin reduction. © 2026 Society of Chemical Industry.

Genetic associations and mediating effects of insulin resistance between hypertension and sarcopenia: A bidirectional two-sample Mendelian randomization study.

We describe three unrelated individuals with congenital generalized hypertrichosis with gingival hyperplasia (CGHGH), each carrying a distinct structural rearrangement (duplication, deletion, inversion) at 17q24.2-q24.3 identified by CMA and WGS. Despite differences in the type of rearrangement, all three patients seem to exhibit alterations affecting the genomic architecture of a cluster of genes, particularly involving the ABCA family (notably ABCA5, ABCA6, ABCA9, ABCA10), MAP2K6, and potassium channels (KCNJ16, KCNJ2). These findings suggest that disruption of the local chromatin organization, including topologically associating domains (TADs), may contribute to the pathogenesis of CGHGH. Although previous studies implicated deletions affecting ABCA5 as the likely cause of CGHGH, our findings emphasize a broader spectrum of structural variation capable of producing similar phenotypes. Interestingly, one patient involved a cryptic 1.2 Mb inversion that disrupted the region between ABCA9 and KCNJ2, detectable only by whole genome sequencing, reinforcing the need for advanced molecular diagnostics in patients with syndromic hypertrichosis. In all three individuals, gingival overgrowth co-occurred with typical facial features, coarse hair, and normal cognitive development, adding evidence to the phenotype-genotype correlation. Overall, this study strengthens the hypothesis that disruption of regulatory elements and chromatin architecture at 17q24.2-q24.3, rather than single nucleotide variants alone, can be a primary driver of CGHGH. These findings underscore the need to incorporate genome-wide structural variant analysis in the diagnostic workflow of rare developmental disorders, especially those with heterogeneous or subtle clinical presentations.

Soilborne fungal pathogens threaten food security, but limited knowledge of their population biology, including genetic variability and population structure, hinders the development of effective strategies to prevent crop losses. Rhizoctonia solani AG-1 is a significant soilborne pathogen worldwide, divided into subgroups based on host range and molecular diversity. Rhizoctonia solani AG1-IA causes sheath blight in rice and aerial blight in soybean, two devastating diseases in these economically important crops. Rice and soybean are often grown in rotation, leading to the buildup of inoculum in the fields over cropping seasons. Monitoring the genetic variability and structure of R. solani AG1-IA is critical to understand the population biology of the pathogen and aid in disease management practices, including the screening and development of new resistant cultivars. A total of 145 isolates of R. solani collected between 1993 and 2022 from different hosts and states in the USA were sequenced. The population genetic structure was inferred with clustering approaches based on approximately two million biallelic single nucleotide polymorphisms (SNPs). Rhizoctonia solani AG1-IA showed relatively high genetic diversity and little departure from mutation-drift equilibrium, suggesting that R. solani AG1-IA is a well-established, widespread pathogen with a stable demographic history in the USA. While populations had a clear geographic structure, they lacked host specialization, suggesting dispersal is mainly distance limited. Shared ancestry between populations and the discovery of clonal lineages, however, indicated recent connections between geographic areas. Our work provides valuable insights into the evolutionary history and population biology of R. solani AG1-IA, offering a foundation for developing targeted management strategies and resistant crop varieties.

Understanding evolutionary relationships in domesticated crops and their wild relatives is often challenging because of their recent divergence, and still ongoing interspecific gene flow. These processes blur species boundaries and complicate phylogenetic reconstruction. The genus Sechium (Cucurbitaceae), which includes the cultivated chayote (S. edule ssp. edule), a Neglected and Underutilized Species (NUS), and its related wild taxa, represents one of such cases. Using genome-wide Single Nucleotide Polymorphisms (SNPs) analyzed under a population genomics framework, we explored the species barriers of Sechium and reconstructed its phylogeny using multispecies coalescent models. Our results clarify taxonomic boundaries within the genus, confirming S. edule ssp. sylvestre as the closest wild relative of the cultivated chayote, and supporting species-level distinction among wild taxa. Divergence within Sechium mostly occurred during the Pleistocene, and our data point to the "Oaxaca" biogeographic province, in southern Mexico, including parts of the states of Oaxaca, Puebla and Veracruz, as the most likely center of chayote domestication. Several metrics revealed low genetic diversity and small contemporary effective population sizes (Ne) in wild taxa, highlighting their vulnerability under ongoing tropical cloud forest loss. These findings emphasize the urgent need to integrate wild Sechium species into national and international conservation frameworks. More broadly, this study demonstrates how combining phylogenomics and conservation genomics can help resolve taxonomic uncertainty, trace domestication processes, and guide the preservation of Crop Wild Relatives (CWR); particularly those associated with NUS that remain vital for future food security and agroecosystem resilience.

A FEN1-EDCR dual-amplification strategy for ultrasensitive detection of CHCHD10 c.176C>T mutation.

The length of the stipe is a key commercial trait in oyster mushrooms, but the genes and molecular mechanisms regulating its development remain unclear. This study aimed to identify genes linked to stipe length in oyster mushrooms. An F2 segregating population associated with stipe length was developed and used for phenotypic analysis. The results showed that stipe length followed a typical normal distribution, indicating that this trait is polygenic in nature. Quantitative trait locus (QTL) mapping and bulked segregant analysis (BSA-Seq) were used to identify genomic regions linked to stipe length. A high-density genetic map with 17 604 SNP (single-nucleotide polymorphism) markers was constructed for QTL mapping. A significant QTL associated with stipe length was identified on linkage group 7, located on contig00004 (1 771 973 to 2 139 983 bp). This region contains 122 putative candidate genes. In the BSA-Seq analysis, three significant candidate regions were identified on contig00004, contig00016, and contig00018, collectively containing 26 potential candidate genes. Genes identified through BSA-Seq and QTL mapping are enriched in the cell wall biosynthesis pathway, which plays a key role in stipe elongation. Integrating QTL mapping with BSA-Seq results, a refined candidate region was pinpointed on contig00004 (2 049 583 to 2 063 927 bp). This region contains four candidate genes, which potentially regulating stipe length in oyster mushrooms. The combined QTL mapping and BSA-Seq approach proved effective for identifying genetic regions associated with stipe length. The candidate genes identified in this study provide valuable insights for future research and applications in stipe-length-related breeding programs for oyster mushrooms. © 2026 Society of Chemical Industry.

Self-reported race and ethnicity in relation to oral potentially malignant disorders and oral cancer.

Strain-specific mechanisms of enhanced diacetyl biosynthesis in Lactiplantibacillus plantarum unveiled by multi-omics integration.

Identification of case-specific copy number variants reveals novel genetic insights into familial hemiplegic migraine pathogenesis.

Genomic characterization of an extensively drug-resistant high-risk Pseudomonas aeruginosa ST1971 harboring tmexCD2-toprJ2 from a Vietnamese patient with urinary tract infection.

The importance of mutation pattern in pregnancy outcomes of patients with abnormal prenatal chromosomal microarray results.

Point-of-care profiling of H. pylori virulence and antibiotic resistance from endoscopic biopsies using an integrated restriction enzyme-CRISPR microfluidic platform.

The incidence of Candida tropicalis isolation is increasing in hospital settings. High azole resistance and mortality rates make it a pathogen that requires further analysis. Fourteen azole resistant Candida glabrata clinical isolates were collected from a Lebanese hospital and analysed through whole genome sequencing for single nucleotide polymorphisms in key resistance and virulence genes, and for phylogenetic relatedness. Isolates were then characterised for pathogenicity related attributes. All isolates had Lys314Glu mutation in ERG20 with multiple isolates displaying numerous shared mutations, such as Glu291Lys in CDR2 and Ala16Thr in CDR3. With the exception of two isolates that clustered together, most isolates were over 99.6% identical based on a genomic heatmap, implying high relatedness consistent with localised clonal expansion, although SNP differences appeared too high to support this. However, the isolates exhibited increased ergosterol and chitin content, as well as upregulation of drug efflux pumps resulting in drug resistance. Our hospital isolates showed convergent resistant pathways, with many isolates having both shared and unique mutations and a high degree of genomic similarities.

Molecular characterization and expression patterns of TLR22b gene in grass carp (Ctenopharyngodon idella) and association of single nucleotide polymorphisms with resistance/susceptibility to grass carp reovirus