Mendelian randomization study of the association between cathepsins and melanoma DOI Open Access
Wenwen Wang, Jun Li

World Academy of Sciences Journal, Journal Year: 2024, Volume and Issue: 6(5)

Published: July 3, 2024

Malignant melanoma is a skin tumor with poor prognosis. Therefore, it critical to explore the risk factors associated outcome of this tumor. In present study, Mendelian randomization (MR) was used investigate causal association between cathepsins and malignant melanoma. Summary statistical data on five from European participants were extracted as exposure data. Data genome‑wide study ancestry Single nucleotide polymorphisms instrumental variables (IVs). including 3,751 cases 372,016 controls, MR analysis conducted examine effects these IVs The inverse variance‑weighted method for analysis. addition, MR‑Egger, weighted median pleiotropy residual sum complementary analyses. Furthermore, series sensitivity analyses performed ensure validity robustness results. gene‑predicted results indicated no (P>0.05). Cathepsin S [odds ratio (OR), 1.000; 95% confidence interval (CI), 0.999‑1.001; P=0.943], cathepsin B (OR, CI, P=0.763), O P=0.646), E 0.999; 0.998‑1.001; P=0.375) L2 1.101; 0.831‑1.458; P=0.503) not significantly developing Sensitivity demonstrated significant bias in aforementioned On whole, did provide evidence that (cathepsin S, B, O, L2) are causally related

Language: Английский

Circulating Liquid Biopsy Biomarkers in Glioblastoma: Advances and Challenges DOI Open Access
Attila A. Seyhan

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(14), P. 7974 - 7974

Published: July 21, 2024

Gliomas, particularly glioblastoma (GBM), represent the most prevalent and aggressive tumors of central nervous system (CNS). Despite recent treatment advancements, patient survival rates remain low. The diagnosis GBM traditionally relies on neuroimaging methods such as magnetic resonance imaging (MRI) or computed tomography (CT) scans postoperative confirmation via histopathological molecular analysis. Imaging techniques struggle to differentiate between tumor progression treatment-related changes, leading potential misinterpretation delays. Similarly, tissue biopsies, while informative, are invasive not suitable for monitoring ongoing treatments. These challenges have led emergence liquid biopsy, through blood samples, a promising alternative monitoring. Presently, cerebrospinal fluid (CSF) sampling offers minimally means obtaining tumor-related information guide therapy. idea that any biofluid tests can be used screen many cancer types has huge potential. Tumors release various components into bloodstream other biofluids, including cell-free nucleic acids microRNAs (miRNAs), circulating DNA (ctDNA), cells (CTCs), proteins, extracellular vesicles (EVs) exosomes, metabolites, factors. factors been shown cross blood-brain barrier (BBB), presenting an opportunity well real-time assessment distinct genetic, epigenetic, transcriptomic, proteomic, metabolomic changes associated with brain tumors. their potential, clinical utility biopsy-based biomarkers is somewhat constrained by limitations absence standardized methodologies CSF collection, analyte extraction, analysis methods, small cohort sizes. Additionally, biopsies offer more precise insights morphology microenvironment. Therefore, objective biopsy should complement enhance diagnostic accuracy patients providing additional alongside traditional biopsies. Moreover, utilizing combination diverse biomarker may effectiveness compared solely relying one category, potentially improving sensitivity specificity addressing some existing GBM. This review presents overview latest research found in discusses diagnostic, predictive, prognostic indicators, future perspectives.

Language: Английский

Citations

13
Identifying Novel Drug Targets for Calcific Aortic Valve Disease through Mendelian Randomization DOI
D. Xu, Jin Lü,

Yanfang Yang

et al.

Atherosclerosis, Journal Year: 2025, Volume and Issue: unknown, P. 119110 - 119110

Published: Jan. 1, 2025

Language: Английский

Citations

0
Genome-wide pleiotropy analysis reveals shared architecture between renal traits and gastrointestinal tract diseases DOI Creative Commons
Si Li, Shuang Wu, Minghui Jiang

et al.

Research Square (Research Square), Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 30, 2025

Abstract Background: Comorbidities between gastrointestinal tract (GIT) and renal diseases have been widely reported, but the shared genetic architecture of gut traits remains unclear. Objective: To investigate etiology causal relationships or involved in gut-renal axis. Methods: We explored global local correlations, pleiotropic effects at variants gene levels, associations pair-wise GIT diseases, as well potential target drugs by using latest large-scale genome-wide association study (GWAS) summary data five (BUN, eGFR, CKD, IgAN, KSD) four (PUD, GORD, IBD, IBS). Results: Renal were genetically correlated globally locally across eight 20 trait pairs (BUN-GORD, BUN-IBD, BUN-IBS, CKD-IBD, IgAN-IBD, KSD-PUD, KSD-GORD, KSD-IBS). Pleiotropic analysis identified 222 loci prioritized 169 genes for pairs, including 21 novel that not significant original GWASs, colocalized loci, 29 drug-targeting genes. Among rs3129861 HLA-DRA was potentially BUN-GORD (PP4 = 0.814). KIF5B is a eGFR-IBD CKD-IBD rs12572072 0.929) rs61844306 0.898), both which are eQTLs expressed cultured fibroblasts cells. CKD IBD also PVALEF with PP4 0.800 rs138610699. In addition, rs6873866 casual variant ERAP2 IgAN with PP4=0.800, rs6873866-C allele negatively associated expression multiple tissues. Furthermore, tissue cell-type specific enrichment found over-expressed kidney cortex, immune-related tissues cell types. Mendelian randomization revealed nominal observed on IBS, PUD GORD eGFR. Conclusion: These findings suggested highlighted analyses drug repurposing comorbidities

Language: Английский

Citations

0
Coding and regulatory somatic profiling of triple-negative breast cancer in Sub-Saharan African patients DOI Creative Commons
Ricardo Pinto, Dylan Ferreira,

P. Salamanca

et al.

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: March 25, 2025

The burden of triple-negative breast cancer (TNBC) may be shaped by genetic factors, particularly inherited and somatic mutation profiles. However, data on this topic remain limited, especially for the African continent, where a higher TNBC incidence is observed. In age precision medicine, cataloguing diversity in patients becomes imperative. We performed whole exome sequencing, including untranslated regions, 30 samples from Angola Cape Verde, which allowed to ascertain potential regulatory mutations first time. A high was observed cohort, with 86% variants being so far unreported. Recurring predictive functional algorithms, 17% single nucleotide were predicted deleterious at protein level, 20% overlapped candidate cis-regulatory elements controlling gene expression. Several these functionally-impactful copy number variation (mainly 1q, 8q, 6 10p) occur known BC- all cancer-driver genes, enriched several mechanisms, response radiation related DNA repair mechanisms. TP53 top BC-driver but our results identified possible novel driver genes that play main role context, as TTN, CEACAM7, DEFB132, COPZ2 GAS1. These findings emphasize need expand omics screenings across region globe highest genomic diversity, accelerating discovery new cancer-related pathways.

Language: Английский

Citations

0
The role of polysaccharides in immune regulation through gut microbiota: mechanisms and implications DOI Creative Commons
Ting Zhao, Congyue Wang, Yuhan Liu

et al.

Frontiers in Immunology, Journal Year: 2025, Volume and Issue: 16

Published: March 31, 2025

Polysaccharides, as complex carbohydrates, play a pivotal role in immune modulation and interactions with the gut microbiota. The diverse array of dietary polysaccharides influences microbial ecology, impacting responses, metabolism, overall well-being. Despite their recognized benefits, there is limited understanding precise mechanisms by which modulate system through A comprehensive search Web Science, PubMed, Google Scholar, Embase up to May 2024 was conducted identify relevant studies. This study employs systematic approach explore interplay between microbiota, focusing on cytokine-mediated short-chain fatty acid (SCFA)-mediated pathways. findings underscore significant shaping composition function thereby influencing regulation metabolic processes. However, further research necessary elucidate detailed molecular translate these into clinical applications.

Language: Английский

Citations

0
Genetic associations of plasma proteins and breast cancer identify potential therapeutic drug candidates DOI Creative Commons
Liuliu Quan,

Xin Luo,

Chenxu Meng

et al.

Communications Biology, Journal Year: 2025, Volume and Issue: 8(1)

Published: April 15, 2025

Language: Английский

Citations

0
Identification of novel plasma proteins as promising noninvasive biomarker for early diagnosis and surveillance of pancreatic ductal adenocarcinoma DOI
Shuang Liu, Jiachun Su, Hongzhe Zhao

et al.

Journal of Gastroenterology, Journal Year: 2025, Volume and Issue: unknown

Published: April 26, 2025

Language: Английский

Citations

0
Adiposity and cancer: meta-analysis, mechanisms, and future perspectives DOI Open Access
Eleanor L. Watts, Steven C. Moore, Marc J. Gunter

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Feb. 18, 2024

Obesity is a recognised risk factor for many cancers and with rising global prevalence, has become leading cause of cancer. Here we summarise the current evidence from both population-based epidemiologic investigations experimental studies on role obesity in cancer development. This review presents new meta-analysis using data 40 million individuals reports positive associations 19 types. Utilising major East Asia, also shows that strength varies regionally, stronger relative risks several Asia. mechanisms linking identifies promising future research directions. These include use imaging to circumvent methodological issues involved body mass index omics technologies resolve biologic greater precision clarity.

Language: Английский

Citations

2
Shedding light on the role of complement C4 activation in cancer DOI

Darin Cheung,

Mohammad Ali Hassan,

Trung-Hieu Huynh

et al.

Human Immunology, Journal Year: 2024, Volume and Issue: 86(1), P. 111226 - 111226

Published: Dec. 27, 2024

Language: Английский

Citations

2
Mendelian randomization study of the association between cathepsins and melanoma DOI Open Access
Wenwen Wang, Jun Li

World Academy of Sciences Journal, Journal Year: 2024, Volume and Issue: 6(5)

Published: July 3, 2024

Malignant melanoma is a skin tumor with poor prognosis. Therefore, it critical to explore the risk factors associated outcome of this tumor. In present study, Mendelian randomization (MR) was used investigate causal association between cathepsins and malignant melanoma. Summary statistical data on five from European participants were extracted as exposure data. Data genome‑wide study ancestry Single nucleotide polymorphisms instrumental variables (IVs). including 3,751 cases 372,016 controls, MR analysis conducted examine effects these IVs The inverse variance‑weighted method for analysis. addition, MR‑Egger, weighted median pleiotropy residual sum complementary analyses. Furthermore, series sensitivity analyses performed ensure validity robustness results. gene‑predicted results indicated no (P>0.05). Cathepsin S [odds ratio (OR), 1.000; 95% confidence interval (CI), 0.999‑1.001; P=0.943], cathepsin B (OR, CI, P=0.763), O P=0.646), E 0.999; 0.998‑1.001; P=0.375) L2 1.101; 0.831‑1.458; P=0.503) not significantly developing Sensitivity demonstrated significant bias in aforementioned On whole, did provide evidence that (cathepsin S, B, O, L2) are causally related

Language: Английский

Citations

0