Genetic testing and molecular biomarkers最新文献

{"title":"Genetic Susceptibility and Disease Activity in Ankylosing Spondylitis: The Role of G Protein-Coupled Receptor 35rs4676410 Polymorphism in a Turkish Population.","authors":"Duygu Kirkik, Fatih Hacimustafaoglu, Barış Gündogdu, Betül Dogantekin, Mesut Kariksiz, Sevgi Kalkanli Tas","doi":"10.1089/gtmb.2024.0482","DOIUrl":"10.1089/gtmb.2024.0482","url":null,"abstract":"<p><p><b><i>Background:</i></b> Ankylosing spondylitis (AS) is a chronic inflammatory disorder with a significant genetic predisposition. Genome-wide association studies (GWAS) have identified immune-related loci, including the G Protein-Coupled Receptor 35 (GPR35) gene, as potential contributors to AS pathogenesis. This study aimed to evaluate the association between the rs4676410 polymorphism in the GPR35 gene and both AS susceptibility and disease activity in a Turkish population. <b><i>Methods:</i></b> This case-control study included 200 participants (100 AS patients and 100 healthy controls). DNA was isolated from blood samples, and the rs4676410 polymorphism was analyzed using real-time polymerase chain reaction (PCR). Disease activity in AS patients was assessed using the Bath AS Functional Index (BASFI), Bath AS Disease Activity Index (BASDAI), and disease activity scores including C-reactive protein (ASDAS-CRP) scores. Statistical analyses were conducted using IBM SPSS 26. <b><i>Results:</i></b> The rs4676410 polymorphism was significantly associated with AS susceptibility. The AA genotype and A allele were more prevalent in AS patients, indicating an increased risk of developing AS. Among disease activity measures, ASDAS-CRP scores were significantly higher in patients with the AA genotype (<i>p</i> = 0.043), while no significant differences were observed for BASFI and BASDAI scores across genotypes. <b><i>Conclusion:</i></b> The findings suggest that the rs4676410 polymorphism in the GPR35 gene is associated with AS susceptibility and may influence disease activity through elevated inflammatory responses. These results highlight the potential of the AA genotype and A allele as genetic markers for AS and underscore the importance of integrating genetic insights into personalized treatment approaches.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"32-38"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370683","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":"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":"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":"Differential Analysis of Pathogenic Variants in Thoracic Aortic Aneurysm and Dissection at Different Ages.","authors":"Shilei Luo, Fei Leng, He Zhao, Wei Li, Qiaochu Wang, Jun Guo","doi":"10.1089/gtmb.2024.0139","DOIUrl":"10.1089/gtmb.2024.0139","url":null,"abstract":"<p><p><b><i>Objective:</i></b> To identify genetic variants associated with Stanford A thoracic aortic aneurysm and dissection (ATAAD) using whole-exome sequencing (WES) and analyze positive mutation rates among patients of different onset ages. <b><i>Methods:</i></b> WES was performed on 62 sporadic Chinese ATAAD patients (51-74 years old), and then grouped based on onset age together with 73 previously reported TAAD patients (19-50 years old): ≤35, 36-45, 46-55, and >55 years. The proportion of patients with pathogenic/likely pathogenic (P/LP) variants in TAAD causal genes was compared across groups. <b><i>Results:</i></b> The average onset age of the 62 patients was 57.66 years. Eight P/LP variants were identified (two novel, six previously described) in five known TAAD causal genes (<i>FBN1</i>, <i>SMAD3</i>, <i>TGFBR2</i>, <i>TGFB2</i>, and <i>MYLK</i>) in eight individuals. P/LP variant positive rates among patients across age groups were: 22.73% for ≤35 years, 32% for 36-45 years, 15.52% for 46-55 years, and 3.33% for >55 years. Significant differences (<i>p</i> = 0.0077) were observed between 36-45 and >55 years group. <b><i>Conclusions:</i></b> ATAAD patients aged 36-45 years old at diagnosis had a higher chance of having a P/LP variant and patients >55 years old had the lowest P/LP diagnostic rate. Therefore, gene screening in ATAAD patients ≤55 years old is key to improved diagnostic rate.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"28 11","pages":"431-437"},"PeriodicalIF":1.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638681","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}