Leila Najd-Hassan-Bonab, Maryam S Daneshpour, Mojtaba Jafarinia, Mahdi Akbarzadeh, Maryam Moazzam-Jazi, Sara Asgarian, Davood Khalili
{"title":"Exploring sex-specific genetic architecture of coronary artery disease in Tehran: a cardiometabolic genetic study.","authors":"Leila Najd-Hassan-Bonab, Maryam S Daneshpour, Mojtaba Jafarinia, Mahdi Akbarzadeh, Maryam Moazzam-Jazi, Sara Asgarian, Davood Khalili","doi":"10.1080/14737159.2024.2436399","DOIUrl":"https://doi.org/10.1080/14737159.2024.2436399","url":null,"abstract":"<p><strong>Background: </strong>The development of coronary artery disease (CAD) is influenced by sex and genetic factors. Genome-wide association studies (GWAS) have linked genetic loci to CAD, mostly in European populations. The study aims to find sex-related genetic differences in the Iranian population.</p><p><strong>Research design and methods: </strong>We conducted a sex-stratified GWAS with 4519 subjects (1832 males and 2687 females) in the discovery group and 922 subjects (495 males and 427 females) in the confirmation group of an Iranian cohort. We analyzed 9,141,124 variants using a genome-wide complex trait analysis (GCTA) tool.</p><p><strong>Results: </strong>We detected distinct genetic variants associated with CAD in males: rs34952209 [OR = 1.79; <i>p</i> = 5.216E-8], rs1432687863 [OR = 1.95; <i>p</i> = 8.477E-8], and in females, rs7314741 [OR = 1.67; <i>p</i> = 7.142-8E] positively influenced CAD risk. The CAD-associated SNPs that were obtained have been confirmed using independent samples. Rs3495229 May impact histone mark and Pou2f2 motifs, while rs7314741 in the LEM Domain Containing 3 (LEMD3) promoter may affect a regulatory motif for the STAT transcription factor. According to Roadmap and ENCODE data, Rs1432687863 is a new variant affecting CAD in males, potentially through H3K9me3 in the heart.</p><p><strong>Conclusions: </strong>Our findings highlight the role of sex-specific genetic differences in CAD development, providing novel insights into disease pathways which is not appropriate using a sex-combined strategy. [Figure: see text].</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-10"},"PeriodicalIF":3.9,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fang Liu, Chunmei Li, Man Di, Boqi Shu, Xifeng Xiao
{"title":"<i>HNF1B</i> polymorphisms and endometrial cancer risk: validation of identified loci and evaluation of novel variants.","authors":"Fang Liu, Chunmei Li, Man Di, Boqi Shu, Xifeng Xiao","doi":"10.1080/14737159.2024.2436397","DOIUrl":"https://doi.org/10.1080/14737159.2024.2436397","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to validate HNF1B single nucleotide polymorphisms (SNPs) associated with endometrial cancer risk in a Chinese Han population and explore novel SNPs. Our findings enhance the understanding of genetic components and are crucial for detection strategies and personalized medicine.</p><p><strong>Methods: </strong>We genotyped four HNF1B SNPs in 637 patients and 667 controls using Agena MassARRAY. Logistic regression calculated odds ratios (ORs) and 95% CI. Forest plots visualize stratified analyses. Multiple comparisons tested genetic loci-clinical indicator associations.</p><p><strong>Results: </strong>The study confirmed that rs4430796 (A>G) reduced endometrial cancer risk (OR = 0.83, 95% CI: 0.70-0.99, <i>p</i> = 0.041). Additionally, novel HNF1B mutations were associated with endometrial cancer risk: rs7405776 in individuals under the age of 55 (OR = 047, 95% CI: 0.25-0.91, <i>p</i> = 0.025) and nonsmokers (OR = 0.42, 95% CI: 0.23-0.75, <i>p</i> = 0.004), and rs11651755 in drinkers (OR = 0.39, 95% CI: 0.17-0.90, <i>p</i> = 0.027) and nonsmokers (OR = 0.43, 95% CI: 0.23-0.81, <i>p</i> = 0.009). The SNP rs4430796 was also associated with the CA125 level (<i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>HNF1B polymorphisms influence endometrial cancer risk in the Chinese Han population. Further studies are needed to explore the functional roles and clinical practicality of these SNPs.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-8"},"PeriodicalIF":3.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Promising biomarkers of Kawasaki disease: markers that aid in diagnosis.","authors":"Mindy Ming-Huey Guo, Ho-Chang Kuo","doi":"10.1080/14737159.2024.2432025","DOIUrl":"10.1080/14737159.2024.2432025","url":null,"abstract":"<p><strong>Introduction: </strong>Currently the diagnosis of Kawasaki disease is still heavily reliant on clinical criteria which may be subject to interpretation or mimic other common febrile diseases of childhood. Biomarkers that can aid in the accurate and timely diagnosis of KD are of great clinical utility.</p><p><strong>Areas covered: </strong>A literature search of PubMed was performed using the key words: Kawasaki disease, diagnosis, biomarkers, proteomics and transcriptomics. In this article we review biomarkers that are widely clinically available including NT-ProBNP and ferritin. We also include promising novel biomarkers that have been identified through newer transcriptomic and proteomic techniques.</p><p><strong>Expert opinion: </strong>While the identification of biomarkers that can accurately assist in diagnosing patients with KD is a promising field of research, more still remains to be done to in order to validate new biomarkers in larger cohorts, and to set standardized cutoff values for potential biomarkers that are currently clinically available. Further research is needed before KD biomarkers that are consistent, readily available, and cost-effective can be a clinical reality.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-13"},"PeriodicalIF":3.9,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142646625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes.","authors":"Emma N Somerville, Ziv Gan-Or","doi":"10.1080/14737159.2024.2427625","DOIUrl":"https://doi.org/10.1080/14737159.2024.2427625","url":null,"abstract":"<p><strong>Introduction: </strong>Parkinson's disease (PD) is a complex disorder with vast clinical heterogeneity. Recent genetic, imaging and clinical evidence suggest that there are multiple subtypes of PD, and perhaps even distinct clinical entities, which are being diagnosed under the umbrella of PD. These might have similar clinical presentation, but potentially different underlying mechanisms, which, in future, will require different treatments. Despite extensive genetic research progress, genetic testing is still not a common practice in clinical patient care.</p><p><strong>Areas covered: </strong>This review examines the numerous genes that have been discovered to affect the risk of, or cause, PD. We also outline genetic variants that affect PD age at onset, its progression, and the presence or severity of motor and non-motor symptoms. We differentiate between PD, other synucleinopathies, and atypical parkinsonism syndromes, and describe genes responsible for familial forms of typical PD and atypical parkinsonism. Lastly, we present current clinical trails that are underway for targeted therapies, particularly for GBA1-PD and LRRK2-PD which are the most significant subtypes.</p><p><strong>Expert opinion: </strong>While genetic studies alone cannot be diagnostic for PD, proper utilization of genetic screening for PD could improve diagnostic accuracy and predictions for prognosis, guide treatment, and identify individuals that qualify for clinical trials.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1-13"},"PeriodicalIF":3.9,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sergey N Zhabin, Victor A Lazarenko, Iuliia E Azarova, Elena Yu Klyosova, Marina A Bykanova, Mikhail I Churnosov, Maria A Solodilova, Alexey V Polonikov
{"title":"Lipid-associated GWAS loci as important markers of the risk, severity, and clinical course of peripheral artery disease.","authors":"Sergey N Zhabin, Victor A Lazarenko, Iuliia E Azarova, Elena Yu Klyosova, Marina A Bykanova, Mikhail I Churnosov, Maria A Solodilova, Alexey V Polonikov","doi":"10.1080/14737159.2024.2421497","DOIUrl":"10.1080/14737159.2024.2421497","url":null,"abstract":"<p><strong>Background: </strong>This study investigated the relationship between lipid-associated loci identified through genome-wide association studies (GWAS) and the risk of peripheral artery disease (PAD), its severity, as well as clinical and laboratory features.</p><p><strong>Research design and methods: </strong>A study included 1263 unrelated Russian subjects, consisting of 620 patients diagnosed with PAD and 643 healthy controls. Thirteen single nucleotide polymorphisms (SNP) were genotyped using the MassArray-4 system.</p><p><strong>Results: </strong>Polymorphisms rs1689800, rs55730499 and rs881844 were found to be associated with an increased risk of PAD, whereas SNPs rs1883025, rs3136441, rs3764261 and rs6065906 showed protective effects against disease (P<sub>perm</sub> ≤ 0.05). SNPs rs1689800, rs217406, rs1883025, and rs3136441 exhibited combined effects with cigarette smoking on the PAD risk (P<sub>perm</sub> ≤ 0.05). Polymorphisms rs55730499 (beta = 0.124, P<sub>perm</sub> = 0.04), rs9987289 (beta = 0.558, P<sub>perm</sub> = 0.03), and rs881844 beta = -0.171, P<sub>perm</sub> = 0.03) correlated with the ankle-brachial index. Multiple associations have been found between the SNPs and clinically significant characteristics, including disease severity, risk of gangrene, early disease onset, plasma procoagulant and atherogenic lipid changes (P<sub>perm</sub> ≤ 0.05).</p><p><strong>Conclusions: </strong>We identified novel genetic markers associated with PAD susceptibility and disease-related clinical and laboratory features. The identified biomarkers enhance the potential for predictive genetic testing related to the risk and progression of PAD, facilitating the integration of molecular diagnostics into clinical decision-making processes.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1033-1044"},"PeriodicalIF":3.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142497651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Implementing Individualized quality control plans and managing risk at the point-of-care for molecular diagnostics.","authors":"Erving T Laryea, James H Nichols","doi":"10.1080/14737159.2023.2277374","DOIUrl":"10.1080/14737159.2023.2277374","url":null,"abstract":"<p><strong>Introduction: </strong>Faster turnaround times can lead to rapid patient treatment. Implementing a point-of-care (POC) molecular COVID-19 test requires careful planning. In the POC setting, there are numerous operators and regular monitoring of their activities is key to the successful implementation of a POC molecular test. Test errors can arise from samples, operators, reagents, the testing system, and even from the environment. These sources of error should be considered when implementing a new test.</p><p><strong>Areas covered: </strong>We outline the importance of establishing well-defined policies for staff to follow at the preanalytic, analytic and postanalytic phases of SARS-CoV-2 testing. As these factors are crucial for the accuracy and reliability of the test results. The key discussion points are from the CLSI EP23-Ed2 document on developing individualized quality control plans and medical literature search engines such as EMBASE, MEDLINE and MedlinePlus.</p><p><strong>Expert opinion: </strong>The risk management principles applied when implementing nucleic acid POC tests can identify specific control processes to help mitigate common sources of error when conducting molecular testing at the POC.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"971-977"},"PeriodicalIF":3.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66783728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marios A Diamantopoulos, Panagiotis G Adamopoulos, Andreas Scorilas
{"title":"Small non-coding RNAs as diagnostic, prognostic and predictive biomarkers of gynecological cancers: an update.","authors":"Marios A Diamantopoulos, Panagiotis G Adamopoulos, Andreas Scorilas","doi":"10.1080/14737159.2024.2408740","DOIUrl":"10.1080/14737159.2024.2408740","url":null,"abstract":"<p><strong>Introduction: </strong>Non-coding RNAs (ncRNAs) comprise a heterogeneous cluster of RNA molecules. Emerging evidence suggests their involvement in various aspects of tumorigenesis, particularly in gynecological malignancies. Notably, ncRNAs have been implicated as mediators within tumor signaling pathways, exerting their influence through interactions with RNA or proteins. These findings further highlight the hypothesis that ncRNAs constitute therapeutic targets and point out their clinical potential as stratification biomarkers.</p><p><strong>Areas covered: </strong>The review outlines the use of small ncRNAs, including miRNAs, tRNA-derived small RNAs, PIWI-interacting RNAs and circular RNAs, for diagnostic, prognostic, and predictive purposes in gynecological cancers. It aims to increase our knowledge of their functions in tumor biology and their translation into clinical practice.</p><p><strong>Expert opinion: </strong>By leveraging interdisciplinary collaborations, scientists can decipher the riddle of small ncRNA biomarkers as diagnostic, prognostic and predictive biomarkers of gynecological tumors. Integrating small ncRNA-based assays into clinical practice will allow clinicians to provide cure plans for each patient, reducing the likelihood of adverse responses. Nevertheless, addressing challenges such as standardizing experimental methodologies and refining diagnostic assays is imperative for advancing small ncRNA research in gynecological cancer.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"979-995"},"PeriodicalIF":3.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cytokeratin 18 in nonalcoholic fatty liver disease: value and application.","authors":"Yuan Wu, Jing Zhou, Jun Zhang, Hongshan Li","doi":"10.1080/14737159.2024.2413941","DOIUrl":"10.1080/14737159.2024.2413941","url":null,"abstract":"<p><strong>Introduction: </strong>Nonalcoholic fatty liver disease (NAFLD) is a common metabolism-related disease worldwide. Although studies have shown that some medications may be effective for treating NAFLD, they do not satisfy the medical requirements, and lifestyle changes are the most basic strategy. Thus, early detection of NAFLD and timely lifestyle interventions are highly important.</p><p><strong>Areas covered: </strong>The traditional diagnostic methods for NAFLD are limited by accuracy, cost, and security issues. Cytokeratin 18 (CK18), which is a marker of apoptosis and overall cell death, is an excellent biomarker for NAFLD. Liver fat accumulation in NAFLD triggers the activation of caspases, which increases the CK18 cleavage and its release into the blood. CK18 can help diagnose different stages of NAFLD, especially the nonalcoholic steatohepatitis (NASH) stage. In evaluating the efficacy of the NAFLD treatment and predicting the risk of NAFLD-related diseases, CK18 plays a significant role.</p><p><strong>Expert opinion: </strong>CK18 can non-invasively monitor the pathological conditions of NAFLD patients and provide new hope for the early diagnosis of NAFLD. Adding CK18 to the NAFLD diagnostic criteria that are widely used in clinical settings may be efficient for the detection of NAFLD and early effective intervention.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1009-1022"},"PeriodicalIF":3.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142461309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ning Wang, Jiliang Huang, Ying Fang, Honglin Du, Yanlin Chen, Shuquan Zhao
{"title":"Molecular biomarkers of blunt cardiac injury: recent advances and future perspectives.","authors":"Ning Wang, Jiliang Huang, Ying Fang, Honglin Du, Yanlin Chen, Shuquan Zhao","doi":"10.1080/14737159.2024.2405919","DOIUrl":"10.1080/14737159.2024.2405919","url":null,"abstract":"<p><strong>Introduction: </strong>Blunt cardiac injury (BCI), associated with high morbidity and mortality, involves multiple injuries. With no widely accepted gold standard diagnostic test and molecular biomarkers still in debate and far from application in clinical practice, exploring specific molecular biomarkers of BCI is of great significance. The clarification of molecular biomarkers can improve the diagnosis of BCI, leading to more precise care for victims in various situations.</p><p><strong>Areas covered: </strong>Using the search term 'Biomarker AND Blunt cardiac injury,' we carefully reviewed related papers from June 2004 to June 2024 in PubMed and CNKI. After reviewing, we included 20 papers, summarizing the biomarkers reported in previous studies, and then reviewed molecular biomarkers such as troponins, Nterminal proBtype natriuretic peptide (NT proBNP), hearttype fatty acid binding protein (hFABP), and lactate for BCI diagnosis. Finally, valuable views on future research directions for diagnostic biomarkers of BCI were presented.</p><p><strong>Expert opinion: </strong>Several advanced technologies have been introduced into clinical medicine, which have ultimately changed the research on cardiac diseases in recent years. Some biomarkers have been identified and utilized for BCI diagnosis. Herein, we summarize the latest relevant information as a reference for clinical practice and future studies.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"1023-1031"},"PeriodicalIF":3.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexander Domnich, Elvira Massaro, Giancarlo Icardi, Andrea Orsi
{"title":"Multiplex molecular assays for the laboratory-based and point-of-care diagnosis of infections caused by seasonal influenza, COVID-19, and RSV.","authors":"Alexander Domnich, Elvira Massaro, Giancarlo Icardi, Andrea Orsi","doi":"10.1080/14737159.2024.2408745","DOIUrl":"10.1080/14737159.2024.2408745","url":null,"abstract":"<p><strong>Introduction: </strong>SARS-CoV-2, seasonal influenza, and respiratory syncytial virus (RSV) are major causes of acute respiratory infections in all age groups and responsible for an enormous socio-economic burden. The recently coined term 'tripledemic' describes co-circulation of these three viruses, a novel epidemiological paradigm that poses profound public health implications.</p><p><strong>Areas covered: </strong>Real-time reverse transcription polymerase chain reaction (RT-PCR) is now considered the reference method for the diagnosis of SARS-CoV-2, influenza, and RSV infections. Syndromic-based multiplex RT-PCR panels that simultaneously detect several respiratory viruses have become increasingly common. This review explores available molecular diagnostics (MDx) platforms for the diagnosis of SARS-CoV-2, influenza, and RSV in the same biological sample. Within some limitations of the published validation and diagnostic accuracy studies, both laboratory-based and point-of-care multiplex panels proved highly performant in identifying SARS-CoV-2, influenza A, influenza B, and RSV. Improved operational efficiency and faster turnaround times make these assays potentially cost-effective or even cost-saving.</p><p><strong>Expert opinion: </strong>The adoption of multiplex MDx assays for the contemporary detection of SARS-CoV-2, influenza, RSV, and other respiratory pathogens will likely increase in the next few years. To maximize the clinical usefulness and cost-effectiveness of these assays, locally issued guidelines and protocols on their implementation should be adopted.</p>","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"997-1008"},"PeriodicalIF":3.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}