Genetic testing and molecular biomarkers最新文献

{"title":"Coiled-coil-helix-coiled-coil-helix Domain Containing 1 Promotes Hepatocellular Carcinoma Progression by Regulating Transforming Growth Factor Beta Receptor 1 in the Tumor Immune Microenvironment.","authors":"Xu Chenzhou, Shen Fei","doi":"10.1177/19450265251384161","DOIUrl":"https://doi.org/10.1177/19450265251384161","url":null,"abstract":"<p><p><b><i>Background:</i></b> Coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1) is a mitochondrial protein involved in oxidative phosphorylation and mitochondrial protein synthesis. While its functions have been explored in basic mitochondrial biology, the role of this process in hepatocellular carcinoma (HCC) remains poorly understood. <b><i>Materials and Methods:</i></b> We performed transcriptomic analysis on 272 HCC and 50 normal liver tissue samples to assess CHCHD1 expression. Correlations with clinical features were analyzed using Pearson coefficients. Prognostic relevance was evaluated using receiver operating characteristic analysis. Functional studies in SMMC-7721 cells included transwell migration/invasion assays, as well as western blotting, to assess epithelial-mesenchymal transition (EMT) markers and transforming growth factor (TGF)-β1 signaling. Gene set enrichment analysis (GSEA), single-cell RNA sequencing (scRNA-seq), and immune infiltration analyses were conducted to investigate immunoregulatory functions. <b><i>Results:</i></b> CHCHD1 expression was significantly upregulated in HCC tissues (1.38-fold, <i>p</i> < 0.001) and correlated positively with tumor size (<i>R</i> = 0.45), vascular invasion (<i>R</i> = 0.56), and advanced Barcelona Clinic Liver Cancer stage (<i>R</i> = 0.62; all <i>p</i> < 0.001). High CHCHD1 predicted shorter progression-free survival (area under the curve = 0.938; 95% confidence interval 0.910-0.965; <i>p</i> = 0.039). Overexpression of CHCHD1 enhanced cell migration and invasion, promoted EMT (downregulation of E-cadherin and upregulation of vimentin), and activated TGF-β1 signaling. GSEA linked CHCHD1 to immune-related pathways. scRNA-seq localized CHCHD1 to myeloid-derived suppressor cells, showing potential interactions with TGF-β receptor 1. CHCHD1 expression correlated with Th2 cell infiltration (<i>R</i> = 0.57, <i>p</i> = 0.025) and programmed cell death 1 expression (<i>p</i> = 0.027). <b><i>Conclusion:</i></b> CHCHD1 promotes EMT and immune evasion in HCC via TGF-β1 signaling, implicating it as a promising biomarker and therapeutic target.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191398","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":"Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility.","authors":"Masato Yonamine, Ryo Koyanagi, Noriyo Ishibashi, Yuichi Aita, Kazuhiro Takekoshi","doi":"10.1177/19450265251382504","DOIUrl":"https://doi.org/10.1177/19450265251382504","url":null,"abstract":"<p><p><b><i>Background:</i></b> Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors with a high rate of germline predisposition. Although multigene panel testing (MGPT) using next-generation sequencing (NGS) is widely adopted globally, its clinical application in Japan remains limited. Methods: We developed a custom amplicon-based NGS panel targeting 12 established PPGL susceptibility genes. Germline analysis was performed in 23 Japanese patients with confirmed PPGL to evaluate sequencing quality and variant detection. <b><i>Results:</i></b> Sequencing quality was consistently high (Q30 > 96%, mapping rate >99%, on-target rate >80%), with nearly all exons (148/149) achieving >1,000× coverage. Pathogenic or likely pathogenic variants were found in 21.7% (5/23), including <i>SDHB</i>, <i>VHL</i>, and <i>RET</i>. In addition, variants of uncertain significance (VUS) were found in 17.4% (4/23), including novel missense variants in <i>FH</i>, <i>SDHA</i>, and <i>MAX</i>. <b><i>Conclusions:</i></b> This study demonstrates the feasibility and clinical utility of amplicon-based MGPT for PPGL in a real-world Japanese setting and highlights the importance of ongoing VUS reclassification to improve clinical interpretation. The findings support its diagnostic value, reflect underlying clinical demand, and contributed to its non-insured clinical adoption at certified laboratories in Japan.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145148786","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":"Diagnostic Potential of lncRNA AC073352.1 and YBX1 as Biomarkers for Breast Cancer Detection.","authors":"Mandana Pouladzadeh, Nika Parsi, Hossein Karimpourian, Mahsa Mombeyni, Mohammad-Reza Mahmoudian-Sani","doi":"10.1177/19450265251374361","DOIUrl":"10.1177/19450265251374361","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> Breast cancer is a common cancer in women, often linked to reduced survival in advanced stages. Recently, lncRNAs have gained attention as potential biomarkers for early detection. Among them, lncRNA AC073352.1 and its target protein Y-box 1 (YBX1) are associated with breast cancer progression and are promising diagnostic tools for early-stage detection. <b><i>Materials and Methods:</i></b> This study included 45 newly diagnosed breast cancer patients and 45 healthy controls from Shafa Hospital. Serum was separated from the collected blood samples, and total RNA was extracted and reverse-transcribed into cDNA. Expression levels of lncRNA AC073352.1 and YBX1 were quantified using SYBR Green-based real-time polymerase chain reaction. Their diagnostic performance was assessed by ROC curve analysis. <b><i>Results:</i></b> The study demonstrated that the expression levels of lncRNA AC073352.1 and YBX1 were significantly higher in breast cancer patients compared to the control group. ROC curve analysis indicated that AC073352.1 and YBX1 had suitable sensitivity and specificity for breast cancer detection. Additionally, a significant positive correlation was found between the expression of these two markers in patients, suggesting the possibility of a shared regulatory pathway. <b><i>Conclusion:</i></b> lncRNA AC073352.1 and YBX1 are promising biomarkers for early breast cancer detection, potentially enhancing diagnostic accuracy when used in combination with other methods.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144950520","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":"Identifying Hub Genes Associated with Sex Disparities in Prolactinomas.","authors":"Yuan Zhang, Yuyang Peng, Chengcheng Wang, Hong Liang, Song Li, Hui Yang","doi":"10.1177/19450265251375945","DOIUrl":"10.1177/19450265251375945","url":null,"abstract":"<p><p><b><i>Background:</i></b> Male patients with prolactinomas exhibit greater invasiveness, resistance to dopamine agonists, making treatment more challenging. This study aims to explore the potential different genes contributing to sex disparities in prolactinomas. <b><i>Materials and Methods:</i></b> Weighted gene co-expression network analysis and differential expressed genes analysis were performed to identify sex-related hub genes. In addition, bioinformatics analyses were conducted to understand gene localization on chromosomes, gene regulatory networks, signaling pathways, and their relationship with immune function, which was verified in 21 human prolactinoma samples. <b><i>Results:</i></b> A total of 21 sex-related hub genes were identified. The hub genes in males included nine Y chromosome genes and six autosomal genes, while females had six specific genes. Further predictions using the NetworkAnalyst online tool suggested that transcription factors (REST, androgen receptor) and microRNAs (miR-27a-3p, miR-146a-5p) may be involved in regulating the above sex-related hub genes. CIBERSORT analysis revealed that prolactinomas in males showed significant infiltration of resting dendritic cells and naive CD4⁺ T cells. Correlation analysis between sex-related hub genes and immune checkpoint genes indicated that male hub genes were positively correlated with <i>CD47</i> and <i>CEACAM1</i>, while showing a strong negative correlation with <i>CD28</i>, <i>TNFSF14</i>, and <i>CD226</i>. Finally, similar changes of gene expression in our surgical prolactinoma samples were confirmed by RT-qPCR. <b><i>Conclusions:</i></b> In prolactinomas, the male hub genes and female hub genes are identified by our bioinformatics analysis. Our findings suggest that <i>KDM5D</i>, <i>PDCD1</i>, <i>ELOA3BP</i>, <i>XRRA1,</i> and <i>SIGLEC12</i> serve as potential biomarkers for male prolactinomas, while <i>SOX3</i>, <i>DMGDH</i>, and <i>NPAS1</i> may serve as potential biomarkers for female prolactinoma, providing a theoretical basis for targeted therapy.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"241-254"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145000314","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":"Investigation the Impact of <i>KCNE1</i>-rs1805127 Polymorphism on Cardiac Patients with Atrial Fibrillation.","authors":"Zahra Shirzad Kebria, Vahid Gholinezhad Malekshah, Abasalt Hosseinzadeh Colagar, Mohammad Taghi Hedayati Goudarzi","doi":"10.1177/19450265251375997","DOIUrl":"10.1177/19450265251375997","url":null,"abstract":"<p><p><b><i>Objective:</i></b> This study aimed to investigate the association between the <i>KCNE1</i> single nucleotide polymorphism (SNP: rs1805127; T>C transition; S38G substitution) and atrial fibrillation (AF) in the Mazandaran population of northern Iran. <b><i>Materials and Methods:</i></b> To conduct this case-control study, 120 blood samples from healthy individuals and 120 from individuals with AF were collected over an 11-month period. All participants underwent electrocardiogram analysis by a cardiologist. In addition, they completed a questionnaire that included questions about their medical history, lifestyle factors, and current medications. Genotyping of <i>KCNE1</i>-rs1805127 was performed using the restriction fragment length polymorphism method. The impact of <i>KCNE1</i>-rs1805127 on protein stability, function, and mRNA secondary structure was assessed using SIFT, I-Mutant, MetaRNN, and RNAsnp servers. <b><i>Results:</i></b> The results revealed a significant association of the CC genotype and C allele with AF (CC genotype: <i>p</i> value = 0.035; C allele: <i>p</i> value = 0.042). Furthermore, an association was observed between smoking (<i>p</i> value = 0.018), hypertension (<i>p</i> value = 0.046), and thyroid disorders (<i>p</i> value = 0.040) and AF. <i>in silico</i> predictions indicated that <i>KCNE1</i>-rs1805127 may impair protein function, reduce stability, and alter mRNA secondary structure. <b><i>Conclusions:</i></b> Based on the results obtained, <i>KCNE1</i>-rs1805127 may increase the risk of AF, particularly in the presence of risk factors such as smoking, hypertension, and thyroid disorders. Notably, <i>in silico</i> predictions from computational tools validate this observed impact. Given the role of the <i>KCNE1</i> gene in modulating ion channels and cardiac electrophysiology, we suggest that further research on <i>KCNE1</i> and its SNPs could provide valuable insights into its role in the pathogenesis of cardiac arrhythmias, particularly AF.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"255-261"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144950518","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":"Evaluation of <i>NOS3</i> 894G>T (p.Glu298Asp) Variant as Risk Factor for Open Neural Tube Defects in Infants from Western Mexico.","authors":"Diana Karen Pérez-Alfaro, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Mireya Orozco-Vela, Idalid Cuero-Quezada, Jorge Román Corona-Rivera","doi":"10.1177/19450265251375936","DOIUrl":"10.1177/19450265251375936","url":null,"abstract":"<p><p><b><i>Background:</i></b> The nitric oxide (NO) synthase 3 (<i>NOS3</i>) 894G>T (p.Glu298Asp) variant has been associated with an elevated risk of neural tube defects (NTDs) in Caucasians. This association suggests a link between the NO and folic acid pathways. <b><i>Aim:</i></b> This study aimed to evaluate the <i>NOS3</i> (p.Glu298Asp) variant as a potential genetic risk factor in infants with isolated open and closed NTDs (CNTDs) from Western Mexico. <b><i>Materials and Methods:</i></b> The studied population included 114 live-born infants with open and CNTDs (cases) and 155 neonates without major birth defects (controls). Genotyping of the <i>NOS3</i> 894G>T (p.Glu298Asp) variant was performed by PCR amplification and direct Sanger sequencing. Data were analyzed using logistic regression analysis. <b><i>Results:</i></b> The <i>NOS3</i> 894T allele (adjusted odds ratio [aOR] = 2.1; 95% confidence interval [95% CI]: 1.3-3.4), the 894GT (aOR = 2.3; 95% CI: 1.3-4.1), and the 894GT/TT (aOR = 2.6; 95% CI: 1.4-4.7) genotypes were significantly associated with open NTDs (ONTDs). There was no association between the <i>NOS3</i> 894G>T gene variants and CNTDs. <b><i>Conclusions:</i></b> This study indicates that the <i>NOS3</i> 894G>T (p.Glu298Asp) variant is associated with an increased risk of ONTDs in the studied Mexican patients.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"262-266"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144950537","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":"Genetic Association Between Polymorphisms in lncRNA <i>ANRIL</i> and Gastric Cancer Susceptibility.","authors":"Sang-Il Lee, Jin-Gyu Jung, In Ae Chang, Eun-Heui Jin, Jang Hee Hong","doi":"10.1177/19450265251375929","DOIUrl":"10.1177/19450265251375929","url":null,"abstract":"<p><p><b><i>Objective:</i></b> Genetic variations of long noncoding RNAs are potential biomarkers for gastric cancer (GC). However, reports on the association between single nucleotide polymorphisms (SNPs) in antisense noncoding RNA in the INK4 locus (<i>ANRIL</i>) and GC risk are few. This case-control study aimed to evaluate the association between SNPs in <i>ANRIL</i>, GC risk, and subgroups in a Korean population. <b><i>Methodology:</i></b> The TaqMan genotyping assay of six SNPs in <i>ANRIL</i> was performed in 419 patients with GC and 348 controls. <b><i>Results:</i></b> After adjusting for age and gender, the following significant associations were identified: rs2157719 in the dominant model (TC+CC vs. TT) with decreased GC risk in the lymph node metastasis (LNM)-negative subgroup (<i>p</i> = 0.045, adjusted odds ratio [AOR] = 0.65, 95% confidence interval [CI] = 0.43-0.99); rs1333040 in the recessive model (CC vs. TT+TC) with increased risk in the undifferentiated subgroup (<i>p</i> = 0.032, AOR = 1.92, 95% CI = 1.06-3.50); and rs4977574 in the dominant model (AG+GG vs. AA) with decreased risk in the LNM-positive, tumor stage III (A+B+C), and undifferentiated subgroups (<i>p</i> = 0.007, AOR = 0.58, 95% CI = 0.39-0.86; <i>p</i> = 0.028, AOR = 0.63, 95% CI = 0.42-0.95; and <i>p</i> = 0.049, AOR = 0.63, 95% CI = 0.40-1.00, respectively). <b><i>Conclusion:</i></b> Our findings suggest that these SNPs in <i>ANRIL</i> are associated with GC risk and influence GC development. Further studies are needed to confirm our results in different ethnic groups and larger populations.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"233-240"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144992203","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":"A Novel Prognostic Model of Endometrial Cancer Based on Inflammation and Lipid Metabolism Genes.","authors":"Linyan Zhu, Haiyan Zhu, Zhao Zhang, Fei Xu, Yong Zhu, Keshuo Ding","doi":"10.1177/19450265251366431","DOIUrl":"10.1177/19450265251366431","url":null,"abstract":"<p><p><b><i>Background:</i></b> Endometrial cancer (EC) is a malignancy of the inner epithelial lining of the uterus, with an increasing incidence and disease-associated mortality worldwide. Inflammation and lipid metabolism contribute to EC risk. <b><i>Materials and Methods:</i></b> Differential expression genes (DEGs) in EC and normal samples were analyzed based on the TCGA-UCEC database, and DEGs associated with inflammation and lipid metabolism were screened out to be candidate genes. Prognosis-related genes were analyzed using Cox regression and LASSO regression, and a prognostic model was established. Receiver operating characteristic curves and Kaplan-Meier survival analysis were performed to assess the predictive performance of the prognostic model. Gene Set enrichment analysis, immune infiltration analysis, and gene set variation analysis were performed. Expression of prognostic genes in local tissues was examined by Reverse Transcription Quantitative PCR (RT-qPCR) and immunohistochemistry. Methylthiazolyldiphenyl-tetrazolium bromide assay, migration assay, and wound-healing assay were applied to examine the role of CKMT1B on cell proliferation and migration in EC cell lines. <b><i>Results:</i></b> A prognostic model based on six prognosis-related genes (CKMT1B, NTS, NSG2, H3C1, MAL, ELOA2) was established in EC, and this model had a favorable predictive performance. Respective different pathways and immune cell infiltration were associated with prognostic genes. 5/6 prognostic genes were highly expressed in local EC tissues compared with normal tissues. Knockdown of CKMT1B significantly suppressed cell proliferation and metastasis in EC cell lines. <b><i>Conclusion:</i></b> CKMT1B, NTS, NSG2, H3C1, MAL, and ELOA2 (especially CKMT1B) were important factors in human EC and could be potentially used for risk stratification and prognosis prediction in EC.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"216-231"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855084","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 the Vitamin D Receptor Polymorphism in rs7975232 with the COVID-19 Susceptibility.","authors":"Zohreh Beiranvand, Ashkan Alamdary, Rasool Mohammadi, Mehdi Ajorloo","doi":"10.1177/19450265251366457","DOIUrl":"10.1177/19450265251366457","url":null,"abstract":"<p><p><b><i>Background:</i></b> Vitamin D deficiency influences the pathogenicity and severity of coronavirus disease 2019 (COVID-19), suggesting that polymorphisms in the vitamin D receptor may impact disease susceptibility and outcomes. This study aims to examine the relationship between the rs7975232 SNP and susceptibility to severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection. <b><i>Materials and Methods:</i></b> This study compared 138 COVID-19 patients with 136 healthy individuals at Shohada-ye Ashayer Hospital in Khorramabad. The PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method was employed to ascertain the genotypes following the collection of blood samples. The results of PCR-RFLP method were confirmed by sequencing. IBM SPSS and SNPStats software were utilized to compare genotypes and allele frequencies, as well as to conduct odds ratio analysis. <b><i>Results:</i></b> This study's results did not demonstrate a significant association between the rs7975232 polymorphism and COVID-19 susceptibility (<i>p</i> = 0.58). Subsequent analysis revealed that individuals with low lymphocyte levels and the CC genotype exhibited increased susceptibility to COVID-19 (OR = 3.45, 95%CI: 1.18-10.11). A significant association was observed between creatinine (<i>p</i> < 0.0001), neutrophils (<i>p</i> = 0.02), and NLR (Neutrophil to Lymphocyte Ratio) (<i>p</i> = 0.0015) with rs7975232. In a comparison of AA/AC genotype cases, individuals with normal levels of ALT, CPK, creatinine, blood sugar, and hemoglobin exhibited an increased likelihood of infection. In CC genotype cases, individuals with normal neutrophil levels exhibited a reduced chance of COVID-19. <b><i>Conclusion:</i></b> The current study did not demonstrate a significant association between the examined SNP and COVID-19. The findings indicated that the standard levels of various laboratory parameters influence the likelihood of the disease. Additional studies involving larger and more diverse populations can yield more valid results.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"207-215"},"PeriodicalIF":1.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855085","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":"Evaluation of a Novel <i>MAGEC1</i> Variant and Susceptibility to Ovarian Cancer in the North Indian Population.","authors":"Minerva Sharma, Sonali Verma, Vanshika Bhagat, Ziya Tufail, Rajeshwer Singh Jamwal, Bhawani Sharma, Gresh Chander, Ruchi Shah, Audesh Bhat, Manushi Dhar, Supinder Singh, Rakesh Kumar","doi":"10.1089/gtmb.2025.0029","DOIUrl":"10.1089/gtmb.2025.0029","url":null,"abstract":"<p><p><b><i>Objective:</i></b> To check the correlation between the MAGE Family Member C1 (<i>MAGEC1)</i> gene variant rs176036 and ovarian cancer risk among the Jammu and Kashmir population. <b><i>Methodology:</i></b> A case-control association study of the <i>MAGEC1</i> gene variant rs176036 (G > A) and ovarian cancer. The variation was identified through whole exome sequencing, and the selected variant was genotyped in 111 patients with ovarian cancer and 107 healthy controls belonging to the Jammu and Kashmir region of North India using Sanger sequencing to confirm its association with the ovarian cancer. Odds ratio (OR) and other statistical values were calculated using standard tools. <b><i>Results:</i></b> The allelic frequency distribution was found to be similar between cases and controls, with the dominant allele (G) present in 89.6% of cases and 90.2% of controls (<i>p</i> = 0.84). The allelic OR for the dominant allele was 1.08 (0.55-2.11), which is nonsignificant (<i>p</i> = 0.83). <b><i>Conclusion:</i></b> The present study suggests that the rs176036 variant does not confer any increased risk of ovarian cancer among population of Jammu and Kashmir.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"179-184"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583590","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}