Publications by authors named "Changmi Deng"
Wilms tumor is a prevalent pediatric tumor influenced by various genetic factors. mA modification is a common nucleotide modification that plays a role in a variety of cancers. As a "reader", YTHDF3 is essential for recognizing mA modifications.
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- The nucleotide excision repair (NER) system helps protect against DNA damage, and deficiencies in this system can lead to increased mutations and cancer risks.
- A study analyzed 19 NER gene polymorphisms in 416 Wilms tumor cases and 936 controls from East China, finding that certain XPD polymorphisms decreased Wilms tumor risk while some XPG polymorphisms increased it.
- The research suggests that these gene variations affect nearby gene expression and emphasizes the need for further studies with larger sample sizes to validate these associations.
Background: The potential involvement of circular RNAs (circRNAs) and N-methyladenosine (mA) modification in the progression of Wilms tumor (WT) has not been fully elucidated. This study investigates the regulatory mechanisms and clinical significance of mA-modified circMARK2 and its role in WT progression.
Methods: We identified dysregulated circRNAs through deep sequencing and validated their expression by qRT-PCR in WT tissues.
Background: Wilms tumor is the most prevalent embryonal kidney malignancy in children worldwide. Previous genome-wide association study (GWAS) identified that LIM domain only 1 (LMO1) gene polymorphisms affected the susceptibility to develop certain tumor types. Apart from LMO1, the LMO gene family members also include LMO2-4, each of which has oncogenic potential.
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- EBV (Epstein-Barr Virus) is linked to various cancers, and understanding its methylation profiles in tumor tissues is crucial for cancer research.
- A study utilizing EBV methylation capture sequencing found distinct methylation patterns in different tumor types, with significant differences identified, especially in EBVaGC compared to others.
- The research also established a diagnostic model with high accuracy for differentiating nasopharyngeal carcinoma (NPC) from nasal NKTCL, suggesting that specific EBV CpG sites may aid in cancer diagnosis and understanding EBV's role in tumor formation.
Objective: Neuroblastoma is a life-threatening pediatric solid tumor whose etiology remains unclear. N7-methylguanosine (m7G) is one of the most important epigenetic modifications of RNA, which plays a crucial role in tumorigenesis. The m7G-mediated genes and also have been reported to be dysregulated in various cancers.
View Article and Find Full Text PDFNeuroblastoma is a highly malignant extracranial solid tumor in pediatrics. ALKBH1 as a recently discovered DNA N6-methyldeoxyadenosine (6mA) demethylase closely links to tumorigenesis. Whether the polymorphism contributes to neuroblastoma risk remains unclear.
View Article and Find Full Text PDFThe 5-methylcytosine (m5C) is the key chemical modification in RNAs. As one of the demethylases in m5C, TET2 has been shown as a tumor suppressor. However, the impact of TET2 gene polymorphisms on neuroblastoma has not been elucidated.
View Article and Find Full Text PDFPrevious studies have demonstrated strong associations between host genetic factors and Epstein-Barr virus (EBV) VCA-IgA with the risk of nasopharyngeal carcinoma (NPC). However, the specific interplay between host genetics and EBV VCA-IgA on NPC risk is not well understood. In this two-stage case-control study (N = 4804), we utilized interaction and mediation analysis to investigate the interplay between host genetics (genome-wide association study-derived polygenic risk score [PRS]) and EBV VCA-IgA antibody level in the NPC risk.
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- Radiation-induced brain injury (RBI) significantly impacts the quality of life and survival rates for patients with nasopharyngeal carcinoma (NPC), prompting the need for improved risk stratification tools.
- A large study involving 1189 NPC patients undergoing radiotherapy led to the development of a polygenic risk score (PRS) that effectively identifies individuals at high risk for RBI, with suggested adjusted radiation doses to minimize risk based on genetic predisposition.
- The integration of PRS with clinical factors enhanced prediction accuracy for RBI, indicating that personalized treatment strategies could be developed to optimize patient outcomes.
tRNA methyltransferase 6 (TRMT6)is an enzyme catalyzing N1-methyladenosine, a reversible modification in RNA, including tRNA, mRNA, rRNA, and lncRNA. Increasing evidence has shown the implications of this post-transcriptional modification and its regulators in carcinogenesis. However, its roles in Wilms tumor haven't been reported.
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- Large-scale genetic studies found several genetic loci linked to nasopharyngeal carcinoma (NPC), prompting further investigation into biological mechanisms behind these associations.
- A follow-up study involving nearly 7,000 NPC cases and over 10,000 controls identified two new susceptibility loci (9q22.33 and 17q12) and confirmed the role of two previously known loci linked to NPC risk.
- Functional analyses revealed that the genes PHF2 and CDKN2B-AS1 at these loci are crucial for NPC development, with risk alleles affecting their expression levels and consequently promoting NPC cell proliferation.
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- The study investigates the link between human leukocyte antigen (HLA) molecules that present Epstein-Barr virus (EBV) antigens and the risk of nasopharyngeal carcinoma (NPC).
- Researchers analyzed 455 NPC patients and 463 healthy individuals, using HLA-target sequencing and predictive modeling to assess how EBV peptides bind to different HLA supertypes.
- Results showed that specific EBV peptides have different binding affinities related to NPC risk, with one HLA supertype associated with higher risk and another offering a protective effect, highlighting the complex relationship between EBV, HLA, and NPC development.
Wilms tumor is the most common embryonal renal malignancy in children. WDR4 is an indispensable noncatalytic subunit of the RNA N7-methylguanosine (m7G) methyltransferase complex and plays an essential role in tumorigenesis. However, the relationship between polymorphisms in the gene and susceptibility to Wilms tumor remains to be fully investigated.
View Article and Find Full Text PDFSaliva sampling is a non-invasive method, and could be performed by donors themselves. However, there are few studies reporting biomarkers in saliva in the diagnosis of NPC. A total of 987 salivary samples were used in this study.
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- The study investigates how diversity in human leukocyte antigen (HLA) genes affects cancer susceptibility across 25 types of cancer using data from the UK Biobank.
- HLA diversity, particularly in class I and class II genes, is linked to a reduced risk of certain cancers, like lung cancer and non-Hodgkin lymphoma, emphasizing its protective role.
- The research highlights that HLA diversity may play a critical role in cancer development, particularly in tumors with higher mutation burdens and among specific groups, like smokers.*
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- - Chemoradiation-induced hearing loss (CRIHL) significantly impacts the long-term quality of life for patients with nasopharyngeal carcinoma (NPC), with age, tumor stage, and cisplatin dosage being key risk factors identified in the study.
- - A genome-wide association study (GWAS) on 777 NPC patients found a specific genetic variant (rs1050851) linked to a 5.46-fold increased risk of hearing loss, indicating a potential genetic predisposition associated with the condition.
- - The research suggests a genetic overlap between hereditary deafness and CRIHL, emphasizing the role of synaptic signaling in hearing loss development and allowing for improved risk prediction for personalized prevention strategies.
Detecting EBV DNA load in nasopharyngeal (NP) brushing samples for the diagnosis of nasopharyngeal carcinoma (NPC) has attracted widespread attentions. Currently, NP brush sampling mostly relies on endoscopic guidance, and there are few reports on diagnostic markers suitable for nonguided conditions (blind brush sampling), which is of great significance for extending its application. One hundred seventy nasopharyngeal brushing samples were taken from 98 NPC patients and 72 non-NPC controls under the guidance of endoscope, and 305 blind brushing samples were taken without endoscopic guidance from 164 NPC patients and 141 non-NPC controls (divided into discovery and validation sets).
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- Various biomarkers, including oncofetal chondroitin sulfate (ofCS), are being tested for their effectiveness in detecting multiple cancer types through non-invasive methods, such as analyzing cell-free DNA and circulating proteins.
- In a study, an optimized ELISA was used to measure levels of ofCS in plasma, revealing that cancer patients had significantly elevated levels compared to non-cancer patients across six different cancer types.
- Further validation showed that individuals in the highest risk category had over 27 times greater likelihood of having cancer, with the potential for early detection based on elevated levels of ofCS.
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- Recent research highlights the role of oral microbiota in nasopharyngeal carcinoma (NPC), a cancer notably linked to Epstein-Barr virus (EBV).
- A study involving 303 NPC patients showed that those with the disease had a distinct microbiota profile characterized by lower diversity and specific bacteria like Streptococcus sanguinis, which is associated with increased EBV activity.
- Findings suggest that by producing hydrogen peroxide, S. sanguinis may activate EBV, influencing host cell signaling pathways and potentially contributing to tumor development in NPC patients.
Neuroblastoma is the most common tumor in infants. RNA m5C modification regulates the survival, differentiation, and migration of cells affecting RNA function. However, the effects of the m5C modification methyltransferase gene NSUN2 polymorphism on neuroblastoma susceptibility have not been reported.
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- The study aimed to create a polygenic hazard score (PHS) to predict who would benefit from adjuvant chemotherapy (ACT) in patients with early-stage non-small cell lung cancer (NSCLC).
- It involved a retrospective analysis of 1,395 stage I-II NSCLC patients and included a genome-wide association study to derive the PHS from 37 specific genetic markers.
- The results showed that patients with a low PHS had significantly better outcomes with ACT, particularly stage II patients, suggesting that the PHS could help identify those most likely to benefit from chemotherapy.
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- Researchers aimed to find genetic mutations that contribute to the risk of familial nasopharyngeal carcinoma (NPC) by studying 13 families with multiple cases of the disease.
- Whole-exome sequencing identified three rare mutations in the POLN gene that showed a strong association with familial NPC and affected the gene’s ability to support viral replication.
- The study concluded that the POLN gene is a susceptibility factor for familial NPC, with mutations leading to decreased protein stability and impaired viral function, highlighting its role in the disease's biology.
Article Synopsis
- Nasopharyngeal carcinoma (NPC) is linked to genetic factors and Epstein-Barr virus infection, making genetic counseling essential for high-risk families.
- A study involving whole-exome sequencing of 502 familial NPC patients revealed rare mutations in known cancer genes and identified 6 new susceptibility genes, with RAD54L showing the highest prevalence.
- Findings suggest that individuals with both rare and common genetic variants face significantly higher NPC risk, paving the way for better risk assessment and prevention strategies for those with a family history of the disease.