Genetic testing and molecular biomarkers最新文献

{"title":"TP53-Mutated Myelodysplastic Syndrome: A Diagnostic Approach in Different Clinical Settings.","authors":"Hatem Kaseb, Genevieve Crane, Jane Gibson","doi":"10.1089/gtmb.2024.0131","DOIUrl":"10.1089/gtmb.2024.0131","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"219-222"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel <i>WFS1</i> Variants in Two Moroccan Families with Wolfram Syndrome.","authors":"Ahmed Bouhouche, Sara Sefiani, Hicham Charoute, Tibar Houyam, Naima Bouslam, Fatima-Zahra El Yousfi, Wadi Bnouhana, Ali Benomar, Fatima-Zahra Ouadghiri, Wafaa Regragui","doi":"10.1089/gtmb.2023.0550","DOIUrl":"10.1089/gtmb.2023.0550","url":null,"abstract":"<p><p><b><i>Background:</i></b> Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families presenting with WFS. <b><i>Methods:</i></b> The clinical features of five members of two WFS families were evaluated. Whole-exome sequencing was conducted to explore the underlying genetic cause in the affected patients. <b><i>Results:</i></b> Two homozygous variants in the <i>WFS1</i> gene were identified, each in one of the two families studied: a missense c.1329C>G variant (p.Ser443Arg) and a nonsense mutation c.1113G>A (p.Trp371Ter). These variants affected conserved amino acid residues, segregated well in the two families, and are absent from genetic databases and in controls of Moroccan origin. Bioinformatics analysis classified the two variants as pathogenic by <i>in silico</i> tools and molecular modeling. <b><i>Conclusion:</i></b> Our study identified for the first time two variants in Moroccan patients with WFS that extends the mutational spectrum associated with the disease.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"257-262"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140896353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>MTHFR</i> 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico.","authors":"Yaneris Maibeth Romero-Bolaño, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Idalid Cuero-Quezada, Jennifer Santana-Hernández, Christian Peña-Padilla, Alejandro Brukman-Jiménez, Mireya Orozco-Vela, Natalia Navia-Espinoza, Jorge Román Corona-Rivera","doi":"10.1089/gtmb.2023.0690","DOIUrl":"10.1089/gtmb.2023.0690","url":null,"abstract":"<p><p><b><i>Background:</i></b> Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (<i>MTHFR</i>) gene can increase the risk of having a child with DS. <b><i>Aim:</i></b> This study aimed to evaluate the <i>MTHFR</i> 677C>T and 1298A>C variants as potential maternal risk factors for DS. <b><i>Materials and Methods:</i></b> Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis. <b><i>Results:</i></b> We found that MoIDS had a significantly higher risk for the <i>MTHFR</i> 677TT genotype (adjusted odds ratio [aOR] = 3.4, 95% confidence interval [95% CI]: 1.1-10.6), and the <i>MTHFR</i> 677T allele (aOR = 1.5, 95% CI: 1.0-2.3), particularly in MoIDS <35 years of age. <b><i>Conclusions:</i></b> Our findings indicate that the presence of the 677TT genotype and 677T allele of the <i>MTHFR</i> 677C>T variant are maternal risk factors for DS in Mexican MoIDS.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"263-266"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The 3'UTR Polymorphisms in the <i>NLRP3</i> Gene Associated with the Risk of COPD and Their Putative Effects on the microRNA Mechanism.","authors":"Huiyan Wu, Chuting Huang, Yanling Zhang, Xin Yang, Liang Peng, Weipeng Li","doi":"10.1089/gtmb.2023.0229","DOIUrl":"10.1089/gtmb.2023.0229","url":null,"abstract":"<p><p><b><i>Aims:</i></b> Evaluating the association between a single nucleotide polymorphism in the 3' untranslated region (3'UTR) of the miRNA binding site of the <i>NLRP3</i> gene and the occurrence and development of chronic obstructive pulmonary disease (COPD) and providing information to aid in the early detection and treatment of COPD. <b><i>Materials and Methods:</i></b> The regulatory single nuclear polymorphisms (SNPs) located in <i>NLRP3</i> 3'UTR were searched by using the dbSNP database and miRNA binding site prediction database. Meanwhile, samples from COPD patients and healthy controls in the same period were used for verification. The clinical baseline information of all subjects was collected, and the transcription level and protein expression level of <i>NLRP3</i> and the expression level of inflammatory factors downstream of <i>NLRP3</i> were detected. The effects of SNPs' single nucleotide changes on the transcription and expression of inflammatory factors were analyzed. <b><i>Results:</i></b> The study included 418 participants (249 in the COPD group and 169 in the control group). <i>NLRP3</i> SNPs with miRNA binding sites include rs10754558 (G > C), rs1664774076 (ATAT > del), and rs1664775106 (C > G). Furthermore, two genotypes, GCG and GCA, were discovered to have a linkage mutation at 3'UTR 459-461. COPD susceptibility is tightly associated with the expression of the rs1664774076 del/del genotype, and the risk of COPD increased by 2.770 times (<i>p</i> = 0.003). Type 459-461 GCA was substantially related to the likelihood of developing COPD at various stages (<i>p</i> < 0.05). Except for rs10754558, all homozygous mutants increased <i>NLRP3</i> mRNA and protein levels. <i>NLRP3</i> had the greatest area under the receiver operating characteristic (ROC) curve for predicting the development and diagnosis of COPD when compared with its downstream inflammatory variables (AUC = 0.9291). <b><i>Conclusions:</i></b> The <i>NLRP3</i> rs1664774076 del/del genotype is a COPD susceptibility gene, and the GCA genotype at 459-461 can be used as an early predictor of COPD exacerbation. The <i>NLRP3</i> 3'UTR polymorphism may alter the loss of miRNA binding sites, leading to an increase in <i>NLRP3</i> expression. In the development of COPD, <i>NLRP3</i> has a better diagnostic value than traditional inflammatory factors. The Clinical Trials Registration number Z: protocol KY01-2020-11-06.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"233-242"},"PeriodicalIF":1.4,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140957082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carrier Screening and Diagnosis for Spinal Muscular Atrophy Using Droplet Digital PCR Versus MLPA: Analytical Validation and Early Test Outcome.","authors":"Dolat Singh Shekhawat, Siyaram Didel, Shilpi Gupta Dixit, Pratibha Singh, Kuldeep Singh","doi":"10.1089/gtmb.2023.0073","DOIUrl":"10.1089/gtmb.2023.0073","url":null,"abstract":"<p><p><b><i>Background:</i></b> Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of <i>SMN</i> gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. <b><i>Methods:</i></b> Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for <i>SMN1</i> and <i>SMN2</i> genes. In this study, we validated droplet digital polymerase chain reaction (ddPCR) for the determination of CNV for both <i>SMN1</i> and <i>SMN2</i> exon 7 for a diagnostic purpose. In total, 66 clinical samples were tested using ddPCR, and results were compared with the MLPA as a reference test. <b><i>Results:</i></b> For all samples, CNV for <i>SMN1</i> and <i>SMN2</i> exon 7 was consentaneous between ddPCR and MLPA test results (κ = 1.000, <i>p</i> < 0.0001). In addition, ddPCR also showed a significant acceptable degree of test repeatability, coefficient of variation < 4%. <b><i>Conclusion:</i></b> ddPCR is expected to be utilitarian for CNV detection for carrier screening and diagnosis of SMA. ddPCR test results for CNV detection for <i>SMN1</i>/<i>SMN2</i> exon 7 are concordant with the gold standard. ddPCR is a more cost-effective and time-saving diagnostic test for SMA than MLPA. Furthermore, it can be used for population-wide carrier screening for SMA.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"207-212"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140293343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Hashimoto's Thyroiditis and Rheumatoid Arthritis: A Bidirectional Mendelian Randomization Study.","authors":"Jialin Liang, Zhaopu Jing, Yuanqing Cai, Leifeng Lv, Guangyang Zhang, Kai Nan, Xiaoqian Dang","doi":"10.1089/gtmb.2023.0594","DOIUrl":"10.1089/gtmb.2023.0594","url":null,"abstract":"<p><p><b><i>Background:</i></b> We aim to investigate the possible causal association between Hashimoto's thyroiditis (HT) and rheumatoid arthritis (RA) using Mendelian randomization (MR) methods. <b><i>Methods:</i></b> A bidirectional MR analysis was conducted to evaluate the causal association between HT and RA. We obtained summary statistics data from two extensive genome-wide association studies (GWAS) comprising 15,654 cases of HT and 14,361 cases of RA. The primary effect estimate utilized in this study was the inverse-variance weighted (IVW) method. To ensure the reliability and stability of the results, we employed several additional methods for testing, including MR-Egger, weighted median, simple mode, weighted mode, and MR-PRESSO. <b><i>Results:</i></b> Our study revealed compelling evidence of bidirectional causality between HT and RA. When HT was considered as an exposure factor and RA was considered as an outcome factor, this study revealed a positive correlation between HT and RA (IVW: odds ratio [OR] = 2.4546, 95% confidence interval [CI], 1.1473-5.2512; <i>p</i> = 0.0207). Conversely, when we examined RA as the exposure factor and HT as the outcome factor, we still found a positive correlation between them (IVW: OR = 1.2113, 95% CI, 1.1248-1.3044; <i>p</i> = 3.9478 × 10^-7). <b><i>Conclusions:</i></b> According to our research findings, there exists a bidirectional positive causal relationship between HT and RA among European populations. This implies that individuals with HT have an elevated risk of developing RA, and conversely, individuals with RA have an increased risk of developing HT.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"169-175"},"PeriodicalIF":1.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140174221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"miR-107 and miR-126 and Risk of Breast Cancer: A Case-Control Study.","authors":"Priyanka Gupta, Vasudha Sambyal, Jagmohan Singh Bali, Kamlesh Guleria, Manjit Singh Uppal, Meena Sudan","doi":"10.1089/gtmb.2023.0606","DOIUrl":"10.1089/gtmb.2023.0606","url":null,"abstract":"<p><p><b><i>Background:</i></b> Micro RNAs are new diagnostic markers and therapeutic targets in breast cancer research. miR-107 and miR-126 have been reported to be linked with the pathogenesis of breast cancer. The present study investigates the levels of expression of miR-107 and miR-126 in patients with breast cancer to find their correlation with the risk of breast cancer in Amritsar, Punjab, Northwest India. <b><i>Material and Methods:</i></b> In total, 200 subjects, 100 patients with breast cancer and 100 controls, were enrolled to screen the expression of miR-107 and miR-126 using quantitative reverse transcription polymerase chain reaction (RT-PCR) technique. The Livak method (2^-ΔΔCt) was used to calculate the fold change of the expression of micro RNAs. Student <i>t</i>-test was used to calculate the significant change in the expression of miRNAs in patients as compared with controls. Spearman rank correlation coefficient and ROC were conducted. The value of <i>p</i> < 0.05 was considered to indicate a statistically significant difference. <b><i>Results:</i></b> miR-107 was downregulated in patients with breast cancer as compared with controls (fold change = 0.467; <i>p</i> = 0.114) but not statistically significant. The expression of miR-126 was found to be 5.37 times elevated in patients with breast cancer, specifically in stage I and stage III patients (<i>p</i> = 0.009), compared with controls, which may indicate its oncogenic activity. The ROC analyses revealed that miR-126 could be a potential diagnostic marker. In conclusion oncogenic behavior of miR-126 is suggestive of its role in pathogenesis in patients with breast cancer.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"165-168"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140131204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of ceRNA Network and Identification of Potential Treatment Target and Biomarkers of Endothelial Cell Injury in Sepsis.","authors":"Yulin Li, Qinghui Fu, Junjun Fang, Zhipeng Xu, Chunhu Zhang, Longwei Tan, Xin Liao, Yao Wu","doi":"10.1089/gtmb.2023.0143","DOIUrl":"10.1089/gtmb.2023.0143","url":null,"abstract":"<p><p><b><i>Background:</i></b> Sepsis is a complex clinical syndrome caused by a dysregulated host immune response to infection. This study aimed to identify a competing endogenous RNA (ceRNA) network that can greatly contribute to understanding the pathophysiological process of sepsis and determining sepsis biomarkers. <b><i>Methods:</i></b> The GSE100159, GSE65682, GSE167363, and GSE94717 datasets were obtained from the Gene Expression Omnibus (GEO) database. Weighted gene coexpression network analysis was performed to find modules possibly involved in sepsis. A long noncoding RNA-microRNA-messenger RNA (lncRNA-miRNA-mRNA) network was constructed based on the findings. Single-cell analysis was performed. Human umbilical vein endothelial cells were treated with lipopolysaccharide (LPS) to create an <i>in vitro</i> model of sepsis for network verification. Reverse transcription-polymerase chain reaction, fluorescence <i>in situ</i> hybridization, and luciferase reporter genes were used to verify the bioinformatic analysis. <b><i>Result:</i></b> By integrating data from three GEO datasets, we successfully constructed a ceRNA network containing 18 lncRNAs, 7 miRNAs, and 94 mRNAs based on the ceRNA hypothesis. The lncRNA <i>ZFAS1</i> was found to be highly expressed in LPS-stimulated endothelial cells and may thus play a role in endothelial cell injury. Univariate and multivariate Cox analyses showed that only <i>SLC26A6</i> was an independent predictor of prognosis in sepsis. Overall, our findings indicated that the <i>ZFAS1</i>/hsa-miR-449c-5p/<i>SLC26A6</i> ceRNA regulatory axis may play a role in the progression of sepsis. <b><i>Conclusion:</i></b> The sepsis ceRNA network, especially the <i>ZFAS1</i>/hsa-miR-449c-5p/<i>SLC26A6</i> regulatory axis, is expected to reveal potential biomarkers and therapeutic targets for sepsis management.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"133-143"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140157920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.","authors":"Xianfa Tang, Hui Cheng, Lu Cheng, Bo Liang, Mengyun Chen, Xiaodong Zheng, Fengli Xiao","doi":"10.1089/gtmb.2023.0027","DOIUrl":"10.1089/gtmb.2023.0027","url":null,"abstract":"<p><p><b><i>Objective:</i></b> This study aims to identify causal variants associated with vitiligo in an expanded region of 10q22.1. <b><i>Materials and Methods:</i></b> We conducted a fine-scale deep analysis of the expanded 10q22.1 region using in a large genome-wide association studies dataset consisting of 1117 cases and 1701 controls through imputation. We selected five nominal coding single nucleotide polymorphisms (SNPs) located in <i>SLC29A3</i> and <i>CDH23</i> and genotyped them in an independent cohort of 2479 cases and 2451 controls in a Chinese Han population cohort using the Sequenom MassArray iPLEX1 system. <b><i>Results:</i></b> A missense SNP in <i>SLC29A3</i>, rs2252996, showed strong evidence of association with vitiligo (<i>p</i> = 1.34 × 10^-8, odds ratio [OR] = 0.82). Three synonymous SNPs (rs1084004 in <i>SLC29A3</i>; rs12218559 and rs10999978 in <i>CDH23</i>) provided suggestive evidence of association for vitiligo (<i>p</i> = 1.69 × 10^-6, OR = 0.84; <i>p</i> = 9.47 × 10^-5, OR = 1.18; <i>p</i> = 6.90 × 10^-4, OR = 1.16, respectively). Stepwise conditional analyses identified two significant independent disease-associated signals from the four SNPs (both <i>p</i> < 0.05; both D' = 0.03; and <i>r²</i> = 0.00). <b><i>Conclusion:</i></b> The study identifies four genetic coding variants in <i>SLC29A3</i> and <i>CDH23</i> on 10q22.1 that may contribute to vitiligo susceptibility with one missense variant affecting disease subphenotypes. The presence of multiple genetic variants underscores their significant role in the genetic pathogenesis of the disease.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"28 3","pages":"123-130"},"PeriodicalIF":1.4,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ferroptosis-Related Genes Are Associated with Radioresistance and Immune Suppression in Head and Neck Cancer.","authors":"Ping Huang, Xuejian Ning, Min Kang, RenSheng Wang","doi":"10.1089/gtmb.2023.0193","DOIUrl":"10.1089/gtmb.2023.0193","url":null,"abstract":"<p><p><b><i>Background:</i></b> Ferroptosis is associated with tumor development; however, its contribution to radioresistant head and neck cancer (HNC) remains unclear. In this study, we used bioinformatics analysis and <i>in vitro</i> testing to explore ferroptosis-related genes associated with HNCs radiosensitivity. <b><i>Materials and Methods:</i></b> GSE9714, GSE90761, and The Cancer Genome Atlas (TCGA) datasets were searched to identify ferroptosis-related differentially expressed genes between radioresistant and radiosensitive HNCs or radiation-treated and nonradiation-treated HNCs. A protein-protein interaction analysis on identified hub genes was then performed. Receiver operating characteristic curves and Kaplan-Meier survival analysis were used to assess the diagnostic and prognostic potential of the hub genes. Cell counting kit-8, transwell assay, and flow cytometry were applied to examine the role of hub gene collagen type IV, alpha1 chain (<i>COL4A1</i>) on the proliferation, migration, invasion, and apoptosis of TU686 cells. <b><i>Results:</i></b> Hub genes <i>MMP10, MMP1, COL4A1, IFI27</i>, and <i>INHBA</i> showed diagnostic potential for HNC and were negatively correlated with overall survival and disease-free survival in the TCGA dataset. Also, <i>IL-1B, IFI27, INHBA,</i> and <i>COL4A1</i> mRNA levels were significantly increased in TCGA patients with advanced clinical stages or receiving radiotherapy, whereas <i>COL4A1, MMP10</i>, and <i>INHBA</i> expressions were negatively correlated with immune infiltration. Furthermore, the knockdown of <i>COL4A1</i> inhibited cell proliferation, migration, and invasion while promoting apoptosis in TU686 cells. <b><i>Conclusion:</i></b> Ferroptosis-related hub genes, such as <i>COL4A1,</i> are potential diagnostic and prognostic indicators as well as therapeutic targets for HNC.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"100-113"},"PeriodicalIF":1.4,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10979683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}