Genetics research最新文献

{"title":"Association Between <i>rs920778</i> Polymorphisms and Cancer Risk: An Updated Meta-Analysis.","authors":"Lihua Xu, Jiang Deng, Lili Gong, Yajuan Chen, Gang Hu","doi":"10.1155/genr/2340176","DOIUrl":"10.1155/genr/2340176","url":null,"abstract":"<p><p><b>Background:</b> A growing number of studies are exploring the association between HOTAIR rs920778 polymorphisms and cancer risk, but to date, there has been controversy and uncertainty. Preliminary evidence suggests that this polymorphism may influence cancer susceptibility, particularly in Asian populations and specific cancer types such as cervical cancer (CC) and breast cancer (BC). We therefore conducted an updated meta-analysis to accurately assess the association of the HOTAIR rs920778 polymorphism with cancer risk. <b>Method:</b> Comprehensive literature searches were performed in PubMed, Embase, and Web of Science up to September 8, 2023. Inclusion criteria included case-control studies with allele frequency data for both cases and controls. A total of 29 case-control studies were selected for quantitative analysis. Crude odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using Stata software (Version 11) to evaluate the association between the rs920778 polymorphism and cancer risk. Heterogeneity and publication bias were assessed using chi-square tests, <i>I</i> ² statistics, and funnel plots with Egger's test. <b>Results:</b> Our analysis of the results found a significant association between the rs920778 polymorphism and cancer susceptibility. In Asian populations, all five genetic models of the rs920778 polymorphism have been shown to increase overall cancer susceptibility. At the same time, we performed stratified analyses based on cancer type and found that all genetic models revealed significantly increased susceptibility to CC in Asian populations. Conversely, the heterozygote model of rs920778 demonstrated significantly reduced susceptibility to BC, with consistent effects across racial groups. <b>Conclusions:</b> Our meta-analysis demonstrated that the HOTAIR rs920778 polymorphism may be a risk factor for cancer but may serve as a protective factor for BC. Future studies require larger sample sizes and gene function analysis, suggesting that the rs920778 polymorphism could serve as a genetic biomarker to guide targeted therapies or cancer screening.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"2340176"},"PeriodicalIF":1.4,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608170","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}

{"title":"Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.","authors":"Zhiwei Wang, Yali Zhao, Shuting Yang, Yongan Wang, Leilei Wang","doi":"10.1155/genr/5724454","DOIUrl":"10.1155/genr/5724454","url":null,"abstract":"<p><p>Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single-nucleotide variations (SNVs) and InDels, in ASD genetic diagnostics. Here, we performed WES on 50 Chinese children with ASD who tested negative for copy number variants (CNVs). The analysis achieved a diagnostic yield of 10% (5/50 cases). All SNVs and InDels were loss-of-function (LOF) and were slightly more frequent among females (male vs. female: 9.3% vs. 14.3%). A total of five causative genes (<i>PRODH9, PTEN, DEPDC5, SATB2,</i> and <i>CYFIP1</i>) were identified in this study. Variants in ASD-associated genes (<i>CHD8, FOXP1,</i> and <i>SHANK1</i>) and genes linked to other neurodevelopmental disorders (<i>CDH15, GATAD2B,</i> and <i>SHROOM4</i>) were also detected. Despite the small sample size, our findings contribute partially to the dataset on the phenotype and genetic etiology of ASD and underscore WES as a critical tool for elucidating genetic etiologies in CNV-negative ASD cohorts.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"5724454"},"PeriodicalIF":1.4,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608171","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}

{"title":"Identification of Coagulation and Fibrinolysis-Associated Biomarkers With Implications for Preeclampsia.","authors":"Yujie Liu, Tingting Chen, Cuifang Fan","doi":"10.1155/genr/6637484","DOIUrl":"10.1155/genr/6637484","url":null,"abstract":"<p><p><b>Background:</b> Coagulation system abnormalities contribute to clinical manifestations in preeclampsia (PE), but the mechanisms of coagulation and fibrinolysis in PE are unclear. <b>Methods:</b> We utilized the Gene Expression Omnibus (GEO) database to obtain the GSE10588 training set and GSE54618 validation set. From GeneCards, we extracted 514 coagulation and fibrinolysis-related genes (CFRGs). Differential expression analysis identified 1521 DEGs in the GSE10588 training set. WGCNA revealed the salmon module (778 genes) as the key module. LASSO and SVM-RFE methods identified four biomarkers (CYP19A1, C1QBP, GHR, and PSMA3) for a diagnostic model. GSEA was performed on the biomarkers. Immune cell infiltration and therapeutic agents for the biomarkers were analyzed. A circRNA-miRNA-mRNA network was constructed. <b>Results:</b> The salmon module showed the highest correlation with PE and normal samples. The diagnostic model comprised CYP19A1, C1QBP, GHR, and PSMA3. Immune cell analysis revealed significant differences, including type 2 T helper cells and regulatory T cells. C1QBP correlated positively with effector memory CD4 T cells, while PSMA3 had a negative correlation with CD56dim natural killer cells. Sixty-one potential therapeutic agents were predicted, as well as n circRNA-miRNA-mRNA network composed of 73 nodes and 88 edges. <b>Conclusion:</b> Our bioinformatic analysis resulted in a diagnostic model (CYP19A1, C1QBP, GHR, and PSMA3) for PE related to coagulation and fibrinolysis. We also conducted immune microenvironment and drug sensitivity analyses, providing insights into PE diagnosis and treatment.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"6637484"},"PeriodicalIF":1.4,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144527657","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}

{"title":"Association of <i>IRX6</i> rs6499755 and <i>HAAO</i> rs3816183 Polymorphisms With Hypospadias Susceptibility in Northern Chinese Han Population.","authors":"Nan Liu, Yuping Yu, Ziying Chen, Jianbo Shu, Xiaofang Chen, Guodong Xu, Chunquan Cai","doi":"10.1155/genr/5775560","DOIUrl":"10.1155/genr/5775560","url":null,"abstract":"<p><p><b>Background:</b> Hypospadias is one of the most common male congenital external genital malformation anomalies with unclear and multifactorial etiology. Our study aims to investigate whether <i>IRX6</i> rs6499755 and <i>HAAO</i> rs3816183 polymorphisms are susceptible to hypospadias in Chinese Northern Han. <b>Methods:</b> We enrolled 113 patients with hypospadias and 182 healthy controls in the case-control study. Genotyping of single nucleotide polymorphisms (SNPs) was performed using High Resolution Melting (HRM). 113 hypospadias cases were further divided into anterior, middle and posterior subgroups for analysis. In addition, we performed a meta-analysis to evaluate the relationship in multiple populations. <b>Results:</b> The risk allele [C] of <i>IRX6</i> rs6499755 was significantly associated with susceptibility to general hypospadias (OR = 1.547, <i>p</i>=0.01), anterior hypospadias (OR = 3.579, <i>p</i>=0.003) and posterior hypospadias (OR = 1.737, <i>p</i>=0.005). Besides, CC genotype carriers showed an increased risk of hypospadias compared with CT + TT carriers (OR = 1.832, <i>p</i>=0.026). The risk allele [T] of <i>HAAO</i> rs3816183 was associated with susceptibility to anterior/middle hypospadias (OR = 1.775, <i>p</i>=0.046). GMDR analysis revealed a significant interaction between <i>IRX6</i> rs6499755 and <i>HAAO</i> rs3816183 in the risk of hypospadias (cross-validation consistency = 10/10, testing balanced accuracy = 0.6065, <i>p</i>=0.0010). The results of meta-analysis (including 3789 cases and 9241 controls) indicated that <i>IRX6</i> rs6499755 and <i>HAAO</i> rs3816183 were significantly associated with hypospadias (both <i>p</i> < 0.00001). <b>Conclusions:</b> <i>IRX6</i> rs6499755 and <i>HAAO</i> rs3816183 polymorphisms were associated with hypospadias in Chinese Northern Han, and there is a potential interaction between <i>IRX6</i> rs6499755 and <i>HAAO</i> rs3816183 affecting the risk of hypospadias. The meta-analysis supported the hypothesis that <i>IRX6</i> rs6499755 and <i>HAAO</i> rs3816183 were the susceptibility loci for hypospadias. Further research is needed to clarify their pathogenic mechanisms.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"5775560"},"PeriodicalIF":1.4,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475040","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}

{"title":"Fujian Province β-Thalassemia: A Molecular and Hematological Study in Southeastern China.","authors":"Junhao Zheng, Meihuan Chen, Siwen Zhang, Aixiang Lv, Min Zhang, Lingji Chen, Na Lin, Liangpu Xu, Hailong Huang","doi":"10.1155/genr/8862095","DOIUrl":"10.1155/genr/8862095","url":null,"abstract":"<p><p><b>Background:</b> This study aims to investigate the mutation spectrum of β-thalassemia in Fujian Province, China, and to comprehensively analyze the correlation between age, gender, genotype, and hematological parameters in carriers of β-thalassemia. <b>Methods:</b> Genotypes of 10,350 subjects suspected of having thalassemia were analyzed using reverse dot blotting (RDB) or β-globin gene sequencing. Their hematological indices were analyzed by genotype, gender, and age. <b>Results:</b> Among the subjects, 1214 (11.73%) were identified as β-thalassemia carriers. The prevalent genotypes included IVS-II-654 (C > T)/N (37.56%), CD 41-42 (-TTCT)/N (30.72%), CD 17 (A > T)/N (9.64%), -28 (A > G)/N (7.00%), CD 27-28 (+C)/N (3.21%), and CD 26 (GAG > AAG)/N (3.05%). Two rare mutations, Cap+22 (G > A) and IVS-II-806 (G > C), were detected, with the latter being part of a double heterozygous condition with hemoglobin (Hb) New York, compound -α4.2/αα, and Hb Q Thailand, marking the first report in Chinese individuals. Hematological analysis revealed that the CD 26 group exhibited higher levels of Hb, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) compared to the β⁰ and β⁺ groups (<i>p</i> < 0.05). Within the β⁺ group, individuals with -28 (A > G)/N showed significantly higher Hb, MCV, and MCH levels compared to those with IVS-II-654 (C > T)/N. Adult males had higher Hb levels than adult females, and adult patients generally had higher MCV and MCH levels than minors (<i>p</i> < 0.05). <b>Conclusion:</b> This study represents the first comprehensive molecular epidemiological investigation and hematological analysis of β-thalassemia in Fujian Province, providing support for the optimization of prevention and control strategies for thalassemia.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"8862095"},"PeriodicalIF":1.4,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12168651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144309860","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}

{"title":"Causal Association Between 12 Micronutrients and Common Chronic Respiratory Diseases: A Bidirectional Two-Sample Mendelian Randomization Study.","authors":"Tingting Zhu, Xiuyun Chen, Qing Wang, Fang Li, Junjun Yang, Xinyu Zhu, Jingmei Wang, Jixiang Bo","doi":"10.1155/genr/7575005","DOIUrl":"10.1155/genr/7575005","url":null,"abstract":"<p><p><b>Background:</b> This study aims to investigate the causal relationships between 12 micronutrients and common chronic respiratory diseases, revealing whether these nutrients play a causative role in either preventing or exacerbating these conditions. <b>Methods:</b> We employed a bidirectional two-sample Mendelian randomization (MR) approach to explore the causal relationships between micronutrients and chronic respiratory diseases. Data were sourced from the IEU GWAS database, with micronutrients serving as exposure variables and chronic respiratory diseases as outcome variables for causal assessment. This was followed by reverse MR analysis, where the steps were reversed. Analytical methods included inverse-variance weighting (IVW), MR-Egger regression, and the weighted median method to correct for potential pleiotropy and reverse causality. Cochran's <i>Q</i> test and the MR-PRESSO method were used for pleiotropy tests to ensure robustness and reliability of the results. <b>Results:</b> The MR analysis revealed that the genetically predicted calcium is a protective factor for asthma (OR = 0.99, 95% CI 0.984-0.995, <i>p</i> < 0.01), vitamin B12 is a risk factor for asthma (OR = 1.015, 95% CI 1.005-1.024, <i>p</i> < 0.01), and vitamin E is a protective factor for idiopathic pulmonary fibrosis (IPF) (OR = 0.952, 95% CI 0.916-0.989, <i>p</i>=0.012). In the reverse MR analysis, asthma showed a potential causal relationship with calcium levels (OR = 0.829, 95% CI 0.704-0.976, <i>p</i>=0.025), while pneumoconiosis showed a potential risk causal relationship with calcium levels (OR = 1.003, 95% CI 1.002-1.004, <i>p</i> < 0.010). Additionally, pneumoconiosis was found to have a potential protective causal relationship with vitamin E levels (OR = 0.999, 95% CI 0.999-1.000, <i>p</i>=0.034), and sarcoidosis was found to have a potential protective causal relationship with vitamin B12 levels (OR = 0.989, 95% CI 0.979-1.000, <i>p</i>=0.044). <b>Conclusion:</b> This study shows significant causal associations among calcium, vitamin B12, and vitamin E with chronic respiratory diseases. There is a bidirectional protective causal relationship between calcium and asthma, suggesting that increasing calcium intake may reduce the risk of asthma. However, the causal relationships among other vitamins, minerals, and chronic respiratory diseases remain inconclusive, necessitating further research to validate these findings' robustness and generalizability.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"7575005"},"PeriodicalIF":1.4,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225265","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}

{"title":"Genetic Insights Into Type 2 Diabetes Mellitus Susceptibility: A Case-Control Study of the <i>ADIPOQ</i> rs1501299 Polymorphism in the Population of Noakhali Region of Bangladesh.","authors":"Md Anamul Haque, Md Sad Salabi Sawrav, Shipan Das Gupta, Shuvo Chandra Das, Dhirendra Nath Barman, Mohammed Mafizul Islam, Md Murad Hossain","doi":"10.1155/genr/8818420","DOIUrl":"10.1155/genr/8818420","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM) is a global health concern, particularly prevalent in low to middle-income countries like Bangladesh. This case-control study aims to explore the correlation between the <i>ADIPOQ</i> rs1501299 polymorphism and susceptibility to T2DM among the population of Noakhali region of Bangladesh. The study, involving 152 T2DM patients and 118 healthy controls, explores the genetic underpinnings of T2DM, considering the rising prevalence in Bangladesh. The <i>ADIPOQ</i> gene, implicated in diabetes development, is examined for the rs1501299 polymorphism, known for its associations with insulin resistance and T2DM in various populations. Genotyping, conducted through PCR and RFLP analysis, reveals significant deviations from Hardy-Weinberg equilibrium for the TT genotype, suggesting potential demographic influences. Clinical and biochemical characteristics, including blood pressure and lipid levels, highlight the complex interplay between genetics, metabolic outcomes and cardiovascular health in T2DM patients. This study identifies a significant association between the <i>ADIPOQ</i> rs1501299 T allele and increased T2DM risk, emphasizing the need for personalized risk assessment. However, <i>ADIPOQ</i> rs1501299 did not show any substantial association with CVD in the studied population. Despite limitations in sample size and regional focus, this study provides valuable insights into the genetic landscape of T2DM in the Noakhali population, paving the way for future research and personalized therapeutic interventions in addressing the global T2DM epidemic.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"8818420"},"PeriodicalIF":1.4,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198936","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}

{"title":"Identification of Ferroptosis-Related Genes Associated With Cryptorchidism via Bioinformatics and Experimental Verification.","authors":"Tian Du, Yifeng Ge, Zheng Zhou, Jun Jing, Yuming Feng, Hualong Ding, Jinzhao Ma, Bing Yao","doi":"10.1155/genr/7355474","DOIUrl":"10.1155/genr/7355474","url":null,"abstract":"<p><p><b>Objectives:</b> Cryptorchidism is a notorious innate malformation in children that always leads to oligospermatism or azoospermatism. Moreover, there is a relationship between oxidative stress and spermatogenesis dysfunction caused by cryptorchidism. Ferroptosis is associated with iron metabolism and oxidative stress as a novel form of cell death regulation, which is involved in the pathogenesis of many diseases. Hence, ferroptosis may play an important role in spermatogenesis dysfunction in case of cryptorchidism. Therefore, the purpose of this study was to identify the key ferroptosis-related genes that influence spermatogenesis in patients with cryptorchidism and provided new strategies for the prevention and treatment of spermatogenesis dysfunction in cryptorchidism patients in clinical practice. <b>Methods:</b> Gene expression information was downloaded from the Gene Expression Omnibus (GEO) and ArrayExpress databases. The differentially expressed genes (DEGs) were selected using the limma R package. Next, one crucial module, Maroon, was identified via Weighted Gene Coexpression Network Analysis (WGCNA). Ferroptosis-related genes were downloaded from FerrDb v2 database. GO and KEGG analyses were subsequently conducted. Moreover, these differentially expressed ferroptosis-related genes (DE-FRGs) were intersected with the DEGs of AdPlus/AdMinus. Two key genes most closely associated with spermatogenesis dysfunction in cases of cryptorchidism were subsequently identified. Furthermore, immunohistochemistry (IHC) and Receiver Operating Characteristic (ROC) analyses were conducted to validate our conclusions. Finally, miRWalk3.0 and TargetScan were used to predict the pivotal target microRNAs. <b>Results:</b> One critical module and two hub genes that are strongly related to the pathogenesis of spermatogenesis dysfunction in patients with cryptorchidism were identified. Gene Set Enrichment Analysis, ROC and IHC analyses were conducted and the results revealed that BRDT and PARP11 might play critical roles in spermatogenesis dysfunction in patients with cryptorchidism. <b>Conclusion:</b> Our study identified two ferroptosis-related genes, BRDT and PARP11 might play a role in the pathogenesis of spermatogenesis dysfunction in patients with cryptorchidism, which provided a novel perspective for the prevention and treatment of spermatogenesis dysfunction in patients with cryptorchidism in clinical practice.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"7355474"},"PeriodicalIF":1.4,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12124929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198937","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}

{"title":"Identification of <i>ECI2</i> as Potential Prognostic Biomarkers Based on a Fatty Acid Metabolism-Related Gene Model in Clear Cell Renal Cell Carcinoma.","authors":"Di Cui, Wenye Yang, Bo Guan, Wenxu Wu, Wenjiang Yu","doi":"10.1155/genr/2237539","DOIUrl":"10.1155/genr/2237539","url":null,"abstract":"<p><p><b>Background:</b> Clear cell renal cell carcinoma (ccRCC) is the most common and highly malignant subtype of renal cancer, characterized by significant lipid deposition. Research has indicated that its growth and metastasis are closely associated with fatty acid metabolism. <b>Methods:</b> In this study, we integrated TCGA transcriptome data, CPTAC proteomics data, and the single-cell dataset GSE152938 to identify differentially expressed genes related to fatty acid metabolism in ccRCC. Using the LASSO algorithm, we constructed a prognostic model based on these genes. Western blot and PCR analyses confirmed the expression levels of the <i>ECI2</i> in ccRCC, while lentiviral transduction was used to investigate the effects of <i>ECI2</i> expression on tumor biological behaviors. <b>Results:</b> Our findings demonstrated that <i>ECI2</i> expression is downregulated in ccRCC, and lower <i>ECI2</i> levels correlate with better patient prognosis. Functional assays showed that overexpression of <i>ECI2</i> significantly inhibited the proliferation and migration of ccRCC cells and increased their sensitivity to the chemotherapeutic drug oxaliplatin. <b>Conclusion:</b> This study highlights the potential tumor-suppressive role of <i>ECI2</i> in ccRCC and suggests its viability as a diagnostic and therapeutic target.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"2237539"},"PeriodicalIF":1.4,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157890","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}

{"title":"Upregulated Expression of SHMT2 Predicts Poor Survival of Lung Adenocarcinoma.","authors":"Qi Guo, Guang-Hong Huang, Pu Chen, Chao Guo","doi":"10.1155/genr/6104753","DOIUrl":"10.1155/genr/6104753","url":null,"abstract":"<p><p><b>Backgrounds:</b> Serine hydroxy methyltransferase 2 (SHMT2) exerts an essential function in the cellular serine/glycine biosynthesis and one-carbon metabolism. Accumulative evidence revealed that SHMT2 was involved in cancer initiation and development in several types of carcinomas such as glioma, intrahepatic cholangiocarcinoma and colorectal cancer. However, expression and role of SHMT2 in lung adenocarcinoma (LUAD) had not been fully investigated. <b>Methods:</b> Transcriptional information of SHMT2 was retrieved from TCGA database. mRNA and protein expression of SHMT2 were analyzed in LUAD tissues alongside adjacent normal lung tissues using quantitative RT-PCR and immunohistochemical staining. The prognostic significance of SHMT2 in LUAD was assessed through both univariate and multivariate statistical analyses. <b>Results:</b> SHMT2 was higher in LUAD tissues than that in adjacent lung tissues on transcriptional level, mRNA level, and protein level. Elevated SHMT2 protein levels were associated with increased tumor size, positive lymph node metastasis, and more advanced TNM stages. LUAD patients with high SHMT2 level had worse prognosis. <b>Conclusions:</b> Our research indicated that elevated SHMT2 expression is strongly linked to adverse clinical characteristics and poor prognosis in LUAD patients. Consequently, SHMT2 may represent a novel prognosis marker and a promising therapeutic target regarding the treatment of LUAD.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"6104753"},"PeriodicalIF":1.4,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103952/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157919","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}