Trends in Cell Biology, Год журнала: 2024, Номер unknown
Опубликована: Дек. 1, 2024
Язык: Английский
European Journal of Heart Failure, Год журнала: 2025, Номер unknown
Опубликована: Март 10, 2025
Clonal haematopoiesis (CH) is recognized as a significant risk factor for various non-haematologic conditions, including cardiovascular diseases. However, recent studies examining its relationship with heart failure (HF) have reported conflicting findings. To address these inconsistencies, the present meta-analysis aimed to evaluate association of CH incidence and clinical outcomes HF. MEDLINE, Cochrane Library Scopus were searched until 12 December 2024. Triple-independent study selection, data extraction quality assessment performed. Evidence was pooled using three-level mixed-effects meta-analyses. Participants (n = 57 755) had significantly greater new-onset HF compared non-CH group (hazard ratio [HR] 1.23, 95% confidence interval [CI] 1.12-1.35, p < 0.0001; I2 0%), irrespective prior history coronary artery disease. also correlated higher composite outcome all-cause mortality hospitalization (HHF) in patients established (HR 1.84, CI 1.25-2.70, 0.002; 0%). Specifically, associated 1.95, 1.54-2.47, 3% increase every 1% variant allele fraction. concomitant 56% HHF 1.56, 1.05-2.33, 0.029; 19%). an increased incident worse prognosis individuals affected by These findings highlight potential contribute deeper understanding HF, improve stratification, support more personalized approaches management.
Язык: Английский
Процитировано
2
Nature Reviews Genetics, Год журнала: 2024, Номер 25(12), С. 846 - 863
Опубликована: Июнь 25, 2024
Язык: Английский
Процитировано
5
International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(2), С. 671 - 671
Опубликована: Янв. 14, 2025
Human hematopoietic stem cells (HSCs) have traditionally been viewed as self-renewing, multipotent with enormous potential in sustaining essential steady state blood and immune cell production throughout life. Indeed, around 86% (1011-1012) of new generated daily a healthy young human adult are origin. Therapeutically, HSCs contributed to over 1.5 million transplants (HCTs) globally, making this the most successful regenerative therapy date. We will commence review by briefly highlighting selected key achievements (from 1868 end 20th century) that accomplishment. Much our knowledge hematopoiesis is based on small animal models that, despite their importance, do not always recapitulate hematopoiesis. Given this, we critically progress challenges faced identifying tracing lineage differentiation trajectories, referring murine studies needed. Moving forward given dynamic can readily adjust variety stressors, then discuss recent research advances contributing understanding (i) which HSPCs maintain hematopoiesis, (ii) where these located, (iii) mechanisms come into play when homeostatic switches stress-induced or emergency
Язык: Английский
Процитировано
0
Fundamental Research, Год журнала: 2025, Номер unknown
Опубликована: Март 1, 2025
Язык: Английский
Процитировано
0
Nature Communications, Год журнала: 2025, Номер 16(1)
Опубликована: Март 11, 2025
Structural variations (SVs) are diverse forms of genetic alterations and drive a wide range human diseases. Accurately genotyping SVs, particularly occurring at repetitive genomic regions, from short-read sequencing data remains challenging. Here, we introduce SVLearn, machine-learning approach for bi-allelic SVs. It exploits dual-reference strategy to engineer curated set genomic, alignment, features based on reference genome in concert with an allele-based alternative genome. Using 38,613 human-derived show that SVLearn significantly outperforms four state-of-the-art tools, precision improvements up 15.61% insertions 13.75% deletions regions. On two additional sets 121,435 cattle SVs 113,042 sheep demonstrates strong generalizability cross-species genotype weighted concordance score 90%. Notably, enables accurate low coverage, which is comparable the accuracy 30× coverage. Our studies suggest can accelerate understanding associations between genome-scale, high-quality genotyped diseases across multiple species. structural authors precise demonstrating robust coverage levels.
Язык: Английский
Процитировано
0
The Cerebellum, Год журнала: 2025, Номер 24(3)
Опубликована: Март 13, 2025
Язык: Английский
Процитировано
0
Stem Cell Reports, Год журнала: 2025, Номер unknown, С. 102467 - 102467
Опубликована: Март 1, 2025
Язык: Английский
Процитировано
0
Egyptian Journal of Medical Human Genetics, Год журнала: 2025, Номер 26(1)
Опубликована: Март 23, 2025
Abstract Background Human Immunodeficiency Virus (HIV) remains a significant public health concern in Nigeria, characterized by the coexistence of diverse serotypes, mainly HIV-1 and HIV-2, each presenting unique therapeutic challenges. Understanding host immunogenetic variations is essential to improve treatment approaches. Objectives This study aimed identify associated with explore relationship between specific Leukocyte Antigen (HLA) alleles HIV susceptibility, assess cytokine gene polymorphisms disease progression, investigate implications for personalized strategies among patients at military hospital Warri, Nigeria. Methods A cross-sectional was conducted involving 300 HIV-infected individuals (200 100 HIV-2 patients) over 12 months. Genomic DNA extracted from venous blood samples, analyses included HLA typing, polymorphism assessments (TNF-α, IL-6, IL-10), chemokine receptor genotyping (CCR5, CXCR4). Data were analyzed using SPSS version 26. Results exhibited predominance HLA-B35 HLA-C07 alleles, while HLA-B*27 less frequent. The TNF-α − 308G/A allele significantly ( p < 0.05). Among patients, G IL-10−1082A/G more prevalent, suggesting role replication control. CCR5-∆32 variant absent this population. Conclusion underscores influence genetic factors on susceptibility (−308G/A) offering insights tailored approaches informing
Язык: Английский
Процитировано
0
Phenomics, Год журнала: 2025, Номер unknown
Опубликована: Апрель 7, 2025
Язык: Английский
Процитировано
0
International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(8), С. 3470 - 3470
Опубликована: Апрель 8, 2025
Sudden cardiac death (SCD) is a major cause of mortality among patients with coronary artery disease (CAD). This study aimed to identify risk factors for CAD-related SCD (SCDCAD) through autopsy data and genetic screening particular emphasis on rare variants (minor allele frequency < 0.01). We included 241 SCDCAD cases (mean age 54.6 ± 12.8 years, 74.7% male) verified by medico-legal examination silent CAD controls 53.6 15.2 25.3% female) who died from severe craniocerebral trauma. Information about characteristics was obtained questionnaires, police reports data. Whole-exome sequencing performed myocardial tissue samples. Polygenic score (PRS) previously validated model applied variant pathogenicity predicted using in silico tools. victims predominantly at night showed higher rates during summer winter months, more complex disease. Nocturnal time (adjusted odds ratio [AOR] = 3.53, 95% CI: 2.37–5.25, p 0.001), (AOR 2.06, 1.33–3.20, multiple vessel occlusion 1.79, 1.16–2.77, 0.009), right stenosis 2.38, 1.54–3.68, 0.001) unstable plaque 2.17, 1.46–3.23, were identified as SCDCAD. The PRS associated 60% increased (OR 1.632 per SD, 95%CI: 1.631–1.633, 0.001). Genetic analysis MUC19 CGN being both hereditary acquired that may contribute dysfunction precipitate patients, thereby facilitating the prevention early recognition high-risk individuals.
Язык: Английский
Процитировано
0