Genetic testing and molecular biomarkers最新文献

{"title":"A Case-Control Study of the Association Between <i>GSTP1</i> Gene Polymorphisms (rs1695 and rs1138272) and the Susceptibility to Male Infertility in the Moroccan Population.","authors":"Houda Harmak, Salaheddine Redouane, Hicham Charoute, Ouafaa Aniq Filali, Abdelhamid Barakat, Hassan Rouba","doi":"10.1089/gtmb.2024.0367","DOIUrl":"https://doi.org/10.1089/gtmb.2024.0367","url":null,"abstract":"<p><p><b><i>Background:</i></b> Infertility affects 10-15% of couples worldwide, with male factors accounting for half of cases. Environmental, behavioral, and genetic problems contribute to spermatogenic failure in 30% of idiopathic male infertility cases. Other factors, such as oxidative stress (OS), cause impaired spermatogenesis, abnormal sperm morphology, and reduced motility, eventually triggering male infertility. In the male reproductive tract, glutathione <i>S</i>-transferase (GST) family antioxidants are essential for preventing OS, detoxification, and DNA damage protection. <b><i>Methods:</i></b> GSTP1 isoenzyme, one of GST members, has previously been linked to male infertility, and this case-control study is the first to assess the possible association of GSTP1 gene polymorphisms (rs1695 and rs1138272) with nonobstructive azoospermia and severe oligospermia within 300 patients and 300 controls from the Moroccan population using an allele-specific PCR. The statistical analysis was performed with the R programming language. <b><i>Results:</i></b> Genotyping of <i>GSTP1</i> polymorphisms fitted the Hardy-Weinberg equilibrium in both cases and controls (<i>p</i> > 0.05), but no significant association was found in rs1695 (odds ratio [OR] = 1.238, 95% confidence interval [CI] = 0.855 to 1.794, <i>p</i> = 0.258, power = 0.204) and in rs1138272 (OR = 1.192, 95% CI = 0.852 to 0.1668, <i>p</i> = 0.304, power = 0.176). Likewise, results from haplotype analysis (OR = 1.25, 95% CI = 0.61 to 2.57, <i>p</i> = 0.537) and SNP-SNP interactions (OR = 1.522, 95% CI = 0.838 to 2.762, <i>p</i> = 0.166) demonstrated no correlation with the risk of male infertility. <b><i>Conclusion:</i></b> The two SNPs (rs1695 and rs1138272) of the <i>GSTP1</i> gene loci are not associated with male infertility susceptibility in Moroccan subjects. Yet, future investigations with a larger sample size may conclusively help to confirm this association.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970379","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":"Case Report: A Novel Homozygous Variant in the <i>SLX4</i> Gene Causes Fanconi Anemia.","authors":"Sepideh Eisazaei, Majid Naderi, Dor Mohammad Kordi Tamandani","doi":"10.1089/gtmb.2024.0467","DOIUrl":"https://doi.org/10.1089/gtmb.2024.0467","url":null,"abstract":"<p><p><i><b>Background:</b></i> Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved. Whole exome sequencing (WES) is employed to diagnose rare Mendelian disorders when standard tests fail to provide a definitive pathological diagnosis. However, WES has the potential to reveal pathogenic variants that may complicate the diagnostic process. In this study, the method was chosen to examine <i>SLX4/FANCP</i>. <i><b>Aims:</b></i> The goal of our research was to suggest that the new potentially harmful genetic mutation, c.4921dup A>AC (p.Val1641GlyfsTer15), could lead to the development of FA. <i><b>Methods and Result:</b></i> This patient was analyzed by performing the WES test, and a homozygous pathogenic variant in the <i>SLX4</i> gene (c.4921dupA>AC - chr16-3633329-p.Val1641GlyfsTer15) was identified in this patient. The candidate variant was confirmed by Sanger sequencing. The parent of the patient and the fetus of this family were also examined using Sanger sequencing, and they were determined to be carriers and heterozygous. <i><b>Conclusion:</b></i> Our research has uncovered a new form of pathogenic genetic variation in the <i>SLX4</i> gene, providing new insights into the molecular causes of this condition. To date, the c.4921dup A>AC (p.Val1641GlyfsTer15) pathogenic variant has not been observed or reported worldwide. These findings could be valuable for investigating the mechanisms of FA and may offer insights for preventing, diagnosing, and managing the risks associated with this disease.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"29 1","pages":"7-11"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023090","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 Soluble Tumor Necrosis Factor-Like Weak Inducer of Apoptosis, Omentin, and Tumor Necrosis Factor-α in Subjects with Periodontitis and Type 2 Diabetes Mellitus.","authors":"Vinu Ramasundaram, Deepa Ponnaiyan, C M Anitha, P S G Prakash, D J Victor, Akanksha Singh","doi":"10.1089/gtmb.2024.0411","DOIUrl":"10.1089/gtmb.2024.0411","url":null,"abstract":"<p><p><b><i>Purpose:</i></b> Periodontal disease worsens glycemic control due to the bidirectional link between periodontitis and type 2 diabetes mellitus (T2DM), involving inflammatory markers such as soluble tumor necrosis factor-like weak inducer of apoptosis (sTWEAK), tumor necrosis factor-α (TNF-α), and omentin-1. However, their combined role in T2DM with periodontitis has not been studied. This study aimed to evaluate the levels of these biomarkers in periodontitis patients with T2DM before and after nonsurgical periodontal therapy (NSPT). <b><i>Materials and Methods:</i></b> Sixty subjects were divided into four groups (15 each): Group I (systemically and periodontally healthy), Group II (systemically healthy with periodontitis), and Groups III and IV (periodontitis with T2DM, exhibiting good glycemic control [hemoglobin A1c (HbA1c) <7%] and poor control [HbA1c >8%]), respectively. Periodontal parameters such as plaque index, bleeding index, probing pocket depth, and clinical attachment level were assessed. Serum samples were collected at baseline and 3 months to measure sTWEAK, omentin-1, and TNF-α levels using ELISA. HbA1c levels were evaluated at baseline and 3 months. <b><i>Results:</i></b> TNF-α was significantly elevated in all groups compared with sTWEAK and omentin-1. However, omentin-1 levels were higher in the healthy group compared with all other groups. Periodontal parameters and biomarker levels showed significant improvement across all groups after 3 months post-NSPT. <b><i>Conclusion:</i></b> TNF-α and sTWEAK may serve as diagnostic markers, while omentin-1 can be a reliable prognostic marker for evaluating NSPT effects in T2DM patients with periodontitis and varying glycemic control.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"1-6"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893679","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":"REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and <i>In Silico</i> Structural Modeling of One Index Case.","authors":"Eugen-Matthias Strehle, Roberta Battini, Vasantha Gowda, Alice Kuster, Sam Amin, Mariarita Bertoldi, Massimiliano Perduca, Vincenzo Leuzzi, Shelley Johnson, Paul Lupo, Emelline Liu, Emily Fox, Christian Werner","doi":"10.1089/gtmb.2024.0427","DOIUrl":"https://doi.org/10.1089/gtmb.2024.0427","url":null,"abstract":"<p><p><b><i>Background:</i></b> The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3-<i>O</i>-methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. <b><i>Methods:</i></b> Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication. 3-OMD concentrations from Guthrie card tests were determined using liquid chromatography/mass spectrometry. If 3-OMD was raised, cerebrospinal fluid analysis and <i>dopa decarboxylase</i> (<i>DDC</i>) gene sequencing were performed. An in-silico mutagenesis analysis was carried out to model altered AADC enzymes. <b><i>Results:</i></b> In total, 166 patients were enrolled in this study. The median age was 8 years. Sixty-six patients (39.8%) had a diagnosis of cerebral palsy, with the most common type being \"mixed\" (<i>n</i> = 42; 25.3%). One patient (0.6%), an 11-month-old boy from Italy, was diagnosed with AADCd caused by a homozygous, pathogenic <i>DDC</i> variant (c.749C>T; p.Ser250Phe). Three-dimensional modeling of the Ser250Phe AADC enzyme variant revealed its destabilization. <b><i>Conclusions:</i></b> A Guthrie card test for 3-OMD is a recognized screening technique for AADCd. If universal newborn screening for this metabolic disease is not available, children with signs and symptoms of a movement disorder should be investigated for AADCd.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"29 1","pages":"12-18"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058600","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":"Detection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis.","authors":"Khalid Mohamoud Abdullahi, Ahmed Faisal Ali, Mohamed Mohamoud Adan, Qiang Shu","doi":"10.1089/gtmb.2024.0350","DOIUrl":"10.1089/gtmb.2024.0350","url":null,"abstract":"<p><p><b><i>Background:</i></b> Tetralogy of Fallot (TOF) is the most common cyanotic heart defect in newborns, with a complex etiology and genetic variation considered to be one of the main pathogenic factors. Identifying genetic variations associated with TOF has important clinical value for understanding its pathogenesis, patient susceptibility, and prognosis of patients with TOF. Therefore, this study aimed to identify potential pathogenic genes of TOF through comprehensive genetic analysis. <b><i>Materials and Methods:</i></b> In this study, we employed whole exome sequencing (WES) of the DNA of 47 Chinese children who received surgical TOF treatment at the Children's Hospital of Zhejiang University of Medicine and processed for DNA extraction and quantification of the DNA following WES using the Illumina NovaSeq platform. WES data undergo strict quality control and analysis processes including alignment, postprocessing, variant calling, annotation, and prioritization. Key tools, such as GATK's haplotype calling module and Annotate Variation, were used for variant annotation. In addition, by combining bioinformatics tools such as SIFT, Polyphen2, and Clin Pred, we evaluated the potential impact of nonsynonymous mutations on protein function and referred to relevant literature to support our prediction. <b><i>Results:</i></b> Comprehensive data analysis and quality assessment analysis corroborated the data generated from the WES dataset of 47 patients with TOF. Interpreting variants from the perspective of clinical pathogenicity results revealed a novel polymorphism and variant associated with TOF. The identified genetic results revealed evidence for a major contribution of MUTYH, RARB, GFM1, PDZD2, CEP57, DCPS, POMT2, BUB1B, CYP19A1, MAZ, USP10, and TCF3 and provided novel findings for functionally interacting proteins associated with the pathomechanism of TOF. Seven pathogenic variants related to TOF were detected, most of which were previously unreported in this cohort. <b><i>Conclusions:</i></b> The genetic variations discovered in this study emphasize the importance of genetic factors in the pathogenesis of TOF, revealing its complex molecular pathways and protein-protein interactions. The study of genetic diversity provides a new perspective for understanding the etiology of TOF and promotes an in-depth exploration of its pathological mechanisms. These findings lay the foundation for subsequent clinical research and the development of treatment strategies.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"474-484"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800331","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":"The Association Between the C-Reactive Protein Gene Variants rs1130864 and rs2794521 and Obstructive Sleep Apnea in the Iranian Kurdish Population.","authors":"Sharareh Rasouli, Ali Alizadeh Severi, Mohammad Abdolsamadi, Yaser Mohassel, Fatemeh Safari, Farhad Salari, Nejat Mahdieh, Shiva Ahdi Khosroshahi, Bahman Akbari","doi":"10.1089/gtmb.2024.0395","DOIUrl":"10.1089/gtmb.2024.0395","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> Obstructive sleep apnea (OSA) syndrome is a widespread multifactorial disorder that raises the risk of cardiovascular disease, diabetes, and Alzheimer's disease. This study aimed to investigate the association between the risk of OSA and two C-reactive protein (CRP) gene variants, rs1130864 and rs2794521. <b><i>Materials and methods:</i></b> In this study, 100 patients and 100 controls participated. Among 500 patients with OSA attending the sleep disorder center, 100 were randomly selected from those with apnea/hypopnea symptoms and daytime sleepiness. Polymerase chain reaction and restriction fragment length polymorphism of the CRP gene polymorphisms were used in this investigation. <b><i>Results:</i></b> The frequency of the mutant C allele was higher in the patient group than in the control group for the rs2794521 CRP gene variant (<i>p</i> ≤ 0.001), and the C allele elevated the risk of OSA by 2.584 times (odds ratios = 2.584, 95% confidence interval). The frequency of the mutant T allele was higher in the patient group than in the control group for the rs1130864 CRP gene variant, while the frequency of the C allele was higher in the control group, and this difference was statistically significant (<i>p</i> ≤ 0.001). <b><i>Conclusions:</i></b> Our findings indicated that rs1130864 and rs2794521 of the CRP gene are associated with increased risk for OSA. Extensive research is required to determine the role of distinct CRP gene variants in OSA.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"485-491"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768062","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 Polymorphism in Locus of rs274503 (<i>ZBED5</i>/<i>GALNT18</i>) with the Risk of Idiopathic Clubfoot in Chinese Children: An 11-Center Case-Control Study.","authors":"Jingchun Li, Xiaopeng Kang, Guanghui Zhu, Zhanbo Zhao, Shunyou Chen, Yueming Guo, Xiantao Shen, Jingfan Shao, Fei Jiang, Jin Li, Guoxin Nan, Hongwen Xu, Huimin Xia","doi":"10.1089/gtmb.2023.0477","DOIUrl":"10.1089/gtmb.2023.0477","url":null,"abstract":"<p><p><b><i>Background:</i></b> Idiopathic clubfoot (IC) can be corrected initially using the Ponseti method, but still there is a high recurrence rate. The etiology of IC may include many undetermined genetic and environmental factors. Single nucleotide polymorphism of rs274503 in <i>ZBED5/GALNT18</i> has been found to be associated with IC in Caucasian children. Therefore, we decided to investigate the association between this polymorphism and the risk of IC in the Chinese population. <b><i>Methods:</i></b> We conducted an 11-center case-control study of 516 patients with IC and 661 IC-free children. The rs274503 (A>G) polymorphism was genotyped using TaqMan. Odds ratios (ORs) and adjusted ORs, as well as 95% confidence intervals (CIs) and adjusted 95% CIs, were calculated to explore the association between rs274503 polymorphism and IC risk. <b><i>Results:</i></b> G of rs274503 was found to be associated with increased IC risk (AG vs. AA: adjusted OR = 1.40, 95% CI = 1.03-1.92, <i>p</i> = 0.0327; and GG/AG vs. AA: adjusted OR = 1.38, 95% CI = 1.02-1.87, <i>p</i> = 0.0357) after adjusting for age and sex. Furthermore, the risk effect of rs274503 GG/AG with IC was observed in patients with bilateral feet (adjusted OR = 1.68, 95% CI = 1.12-2.54, <i>p</i> = 0.0133), while AA in nonrelapsed groups (OR = 0.70, 95% CI = 0.53-0.92, <i>p</i> = 0.0095) in the stratified analysis. However, the association was not significant in the recessive model of G (GG vs. AA/AG: adjusted OR = 1.06, 95% CI = 0.44-2.58, <i>p</i> = 0.8906). <b><i>Conclusions:</i></b> The rs274503 polymorphism is associated with the risk of clubfoot occurrence. G of rs274503 appeared to be a risk factor of IC as it may increase the bilateral case rate. However, further studies are required to confirm these findings.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"461-466"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800330","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 Loci of the Renin-Angiotensin System and IgA Nephropathy.","authors":"Zheng Zhang, Chen YuQi Li, Yue Yang, YeTong Li, XuMin Zheng, YuanYuan Jiao, WenGe Li","doi":"10.1089/gtmb.2024.0330","DOIUrl":"10.1089/gtmb.2024.0330","url":null,"abstract":"<p><p><b><i>Background:</i></b> IgA nephropathy (IgAN) is the most common primary glomerular disease. The renin-angiotensin system (RAS) plays an important role in the development of IgAN. Polymorphisms in genetic loci coding for the RAS may be associated with IgAN progression. <b><i>Methods:</i></b> We analyzed the M235T, A1166C, and A1675G polymorphisms in 297 IgAN patients, and analyzed their associations with clinical manifestations, pathological damage, effects of RAS-inhibitor treatment, and IgAN patient prognosis. <b><i>Results:</i></b> In patients with the A1675G polymorphism, creatinine levels were significantly lower in those with the AG genotype than in those with the AA genotype (<i>p</i> = 0.023). However, this difference was not significant when creatinine levels were analyzed according to sex. Patients with endocapillary proliferation according to the Oxford Classification of IgAN were less likely to have the AG genotype than the AA genotype (<i>p</i> = 0.025). In IgAN patients treated with angiotensin-II-receptor blockers, 24-h urine protein levels were lower in patients with the AC genotype of A1166C than in those with the AA genotype at baseline and follow-up (Base <i>p</i> = 0.013, 1 month <i>p</i> = 0.0035, 3 months <i>p</i> = 0.009). Cox regression analysis implied that the three gene polymorphisms were not independent risk factors for the prognosis of IgAN. <b><i>Conclusion:</i></b> The AG genotype of A1675G may confer protection against the development of IgAN, with a stronger protective effect observed in females. M235T, A1166C, and A1675G do not appear to be independent risk factors for IgAN.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"467-473"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800332","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":"Immune Regulatory Circular RNAs, circRasGEF1B and circHIPK3, are Upregulated in Peripheral Blood Mononuclear Cells of COVID-19 Patients.","authors":"Ebrahim Mirzaei, Abbas Shahi, Abdolreza Daraei, Bahram Movahedi, Jalal Karimi, Mojtaba Farjam, Yosef Gholampoor, Mohammad Hassan Meshkibaf, Amir Ansari, Zahra Firoozi, Yaser Mansoori","doi":"10.1089/gtmb.2024.0337","DOIUrl":"10.1089/gtmb.2024.0337","url":null,"abstract":"<p><p><b><i>Background:</i></b> COVID-19 is one of the worst pandemics worldwide, and its diagnosis and treatment are of great importance. Recent evidence has shown that circular RNA (circRNA deregulation is involved in different infectious diseases. In the present study, we tried to investigate the expression of cirRNAs RasGEF1B (hsa_circ_0127052), HIPK3 (hsa_circ_100783), and GATAD2A (hsa_circ_0050236) in COVID-19 patients. <b><i>Methods:</i></b> Using quantitative real-time polymerase chain reaction, the expression profiles of candidate circRNAs were detected in 57 COVID-19 patients and 51 healthy controls. As part of the process of identifying a candidate circRNA that is sensitive and specific, receiver operating characteristic (ROC) curves were also utilized. <b><i>Results:</i></b> Our results showed higher expression levels of circRasGEF1B and circHIPK3 in COVID-19 patients, however, circGATAD2A showed no statistical difference between patients and controls. ROC curves showed that circRasGEF1B (hsa_circ_0127052), and HIPK3 (hsa_circ_100783) had favorable specificity and sensitivity, whereas GATAD2A (hsa_circ_0050236) did not. <b><i>Conclusion:</i></b> In summary, our study highlights the potential of CircRasGEF1B (hsa_circ_0127052) and HIPK3 (hsa_circ_100783) as biomarkers for COVID-19 diagnosis due to their high expression levels and demonstrated diagnostic accuracy. These findings suggest that circRNAs could play a crucial role in the development of diagnostic tools for COVID-19, providing a new avenue for early detection and management of the disease.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"452-459"},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581676","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 of ANRIL Gene Polymorphisms with Gastric Cancer Risk: A Case-Control Study.","authors":"Samaneh Hasani, Farhad Pourfarzi, Mohammad Mazani, Abbas Yazdanbod, Aliakbar Fazaeli","doi":"10.1089/gtmb.2024.0302","DOIUrl":"10.1089/gtmb.2024.0302","url":null,"abstract":"<p><p><b><i>Background:</i></b> Gastric cancer's (GC) cause is unknown, but its complexity indicates that, in addition to environmental factors, it may have genetic origins. Scientists are studying single-nucleotide polymorphisms (SNPs) in the antisense noncoding RNA in the INK4 locus (ANRIL) gene, which encodes a long noncoding RNA molecule. They found a link between the ANRIL gene product and some polymorphisms and GC, suggesting genetic changes may lead to precancerous conditions. <b><i>Methods:</i></b> In a case-control research that included 250 patients with GC and 210 controls who were age- and gender-matched, four SNPs within the ANRIL gene were genotyped. These SNPs were rs1333049, rs496892, rs2383207, and rs2151280. Tetra-primer amplification refractory mutation system-PCR was utilized to carry out the process of genotyping. <b><i>Results:</i></b> It was found that the chance of developing GC was connected with three SNPs rs2151280, rs1333049, and rs496892. Nevertheless, rs2383207 did not demonstrate any meaningful connection. In addition, whereas CCTC and TTCC haplotypes were shown to be less common, certain haplotypes that contained these SNPs (TTCG, TCTC, and TTTC) displayed a considerably higher prevalence in the cancer group in comparison to the control group. <b><i>Conclusion:</i></b> This study showed novel associations between specific ANRIL gene polymorphisms (SNPs) and the risk of GC. These findings shed light on the potential role of ANRIL SNPs in GC risk and highlight the need for additional research to clarify the underlying functional processes. Understanding these functional processes might lead to developing novel diagnostic or treatment approaches for this cancer.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"445-451"},"PeriodicalIF":16.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142389695","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}