Genetic testing and molecular biomarkers最新文献

{"title":"Preimplantation Genetic Testing in a Family with Neurofibromatosis Type 1.","authors":"Longmei Wang, Xuemei He, Xianjing Huang, Pingping Qiu, Hong Ji, Lu Ding, Yingying Shi, Ping Li, Libin Mei","doi":"10.1089/gtmb.2025.0031","DOIUrl":"https://doi.org/10.1089/gtmb.2025.0031","url":null,"abstract":"<p><p><b><i>Background:</i></b> Neurofibromatosis is an autosomal dominant genetic disease caused by the abnormal development of neural crests due to genetic defects and is difficult to treat. Patients have a characteristic phenotype with neurofibromas as the main features in different forms, which are accompanied by multisystem involvement. The clinical symptoms of this disease vary greatly, making the treatment more difficult. <b><i>Methods:</i></b> Preimplantation genetic testing (PGT) is a useful technique to prevent chromosomal aneuploidies and other genetic disorders in origin. PGT for monogenic diseases (PGT-M) is now widely used as an effective strategy to screen embryos for monogenic or chromosomal diseases before implantation. In this study, PGT-M was performed in a family history of hereditary with neurofibromatosis type 1 (NF1) to prevent the offspring from inheriting disease-causing gene variant from their parents. Trio-based whole-exome sequencing was used to identify potential pathogenic variants associated with NF1. Blastocyst biopsy was performed on embryos obtained by intracytoplasmic sperm injection. Single-cell amplification of biopsied cells was performed for targeted next-generation sequencing. Single nucleotide polymorphism markers on both sides of <i>NF1</i> were selected to identify disease-carrying haplotypes in each embryo. <b><i>Results:</i></b> A novel heterozygotic frameshift pathogenic variant, c.2033_2034delinsA(p.P678Qfs*10), was identified in the <i>NF1</i> gene in the proband. A total of five blastocysts were biopsied, and the PGT results showed that only one blastocyst was unaffected and was euploid, and the remaining four blastocysts were all carrying paternal pathogenic variants. The only one normal blastocyst was transferred in a frozen-thawed embryo transfer cycle, and a live singleton pregnancy was successfully achieved. At 18 weeks, the amniocentesis test revealed normal karyotype, and the variant carried by the proband was not detected. At 40 weeks, the proband's wife successfully delivered a healthy baby naturally. <b><i>Conclusion:</i></b> PGT is an effective method to detect chromosome copy number variation and gene variant sites in embryos, and it provides suggestions for possible innovations to block the transmission of single-gene genetic diseases to offspring, thereby preventing the occurrence of birth defects.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413218","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 <i>CDK8</i> Gene Polymorphisms with Cervical Cancer in Han Women in Southwest China.","authors":"Su Min, Qin Li, Zhilong Li, Hongxiao Huang, Xuelian Zheng, Yaping Song, Zhishan Ye, Zhichen Tang, Bin Zhou, Tianyu Li, Yanyun Wang","doi":"10.1089/gtmb.2024.0374","DOIUrl":"https://doi.org/10.1089/gtmb.2024.0374","url":null,"abstract":"<p><p><b><i>Background:</i></b> Cervical cancer (CC) is the most prevalent gynecological tumor among women. Cyclin-dependent kinase 8 (<i>CDK8</i>), which plays a crucial role in cellular transcriptional processes and various signaling pathways, has been identified as a key oncogenic factor in numerous cancers. However, limited data exists on the correlation between <i>CDK8</i> and CC. The objective of our study was to investigate whether there is an association between <i>CDK8</i> gene polymorphisms and the development of CC in Han women from Southwest China. <b><i>Materials and methods:</i></b> A total of 300 unrelated CC patients and 335 healthy controls from Southwest China were included in the study. The polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the two tag single nucleotide polymorphisms (SNPs) of <i>CDK8</i> gene (rs17083838 and rs7992670), and the relationship between the two tag SNPs and CC incidence was analyzed by SNPstats software. Multifactor dimensionality reduction (MDR) was used to analyze the interaction of multiple polymorphisms of the <i>CDK8</i> gene. The false-positive report probability (FPRP) was used to verify the effective correlation. <b><i>Results:</i></b> The frequency of the A allele of <i>CDK8</i> rs17083838 in the CC group was significantly higher than that in the control group (25% vs. 12%, <i>p</i> < 0.0001, odds ratio (OR): 0.42, 95% confidence intervals [CI]: 0.31-0.58). The frequency of the A allele at rs7992670 was higher in the CC group than that in the control group (52% vs. 45%, <i>p</i> = 0.026, OR: 0.78, 95% CI: 0.63-0.97). MDR analysis showed that rs17083838 and rs7992670 as the overall model was the best model, the detection accuracy was 0.6157, and the cross-validation consistency was 10/10 (<i>p</i> < 0.0001). In addition, 22 valid FRPR values were verified by using the FPRP detection method. <b><i>Conclusion:</i></b> The two SNPs of the <i>CDK8</i> gene may be associated with the increased risk of CC in the Han population in Southwest China.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"29 2","pages":"39-47"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440634","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 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":"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":"21-31"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","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":"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":"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}