Expert Review of Molecular Diagnostics最新文献_第9页

[⁶⁸Ga]PSMA-11 for positron emission tomography (PET) imaging of prostate-specific membrane antigen (PSMA)-positive lesions in men with prostate cancer. [68Ga]PSMA-11用于前列腺癌男性患者前列腺特异性膜抗原（PSMA）阳性病灶的正电子发射断层扫描（PET）成像。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-07-25 DOI: 10.1080/14737159.2024.2383439

Jessica Clore, Peter J H Scott

{"title":"[68Ga]PSMA-11 for positron emission tomography (PET) imaging of prostate-specific membrane antigen (PSMA)-positive lesions in men with prostate cancer.","authors":"Jessica Clore, Peter J H Scott","doi":"10.1080/14737159.2024.2383439","DOIUrl":"10.1080/14737159.2024.2383439","url":null,"abstract":"Introduction: Theranostics targeting prostate-specific membrane antigen (PSMA) represent a new targeted approach for prostate cancer care that combines diagnostic and therapeutic radiopharmaceuticals to diagnose and treat the disease. Positron emission tomography (PET) is the imaging method of choice and several diagnostic radiopharmaceuticals for quantifying PSMA have received FDA approval and are in clinical use. [68Ga]Ga-PSMA-11 is one such imaging agent and the focus of this article. One beta-emitting radioligand therapy ([177Lu]Lu-PSMA-617) has also received FDA approval for prostate cancer treatment, and several other alpha- and beta-emitting radioligand therapies are in clinical trials.Areas covered: Theranostics targeting PSMA in men with prostate cancer are discussed with a focus on use of [68Ga]Ga-PSMA-11 for imaging PSMA-positive lesions in men with prostate cancer. The review covers [68Ga]Ga-PSMA-11 manufacture, current regulatory status, comparison of [68Ga]Ga-PSMA-11 to other imaging techniques, clinical updates, and emerging applications of artificial intelligence for [68Ga]Ga-PSMA-11 PET.Expert opinion: [68Ga]Ga-PSMA-11 is used in conjunction with a PET/CT scan to image PSMA positive lesions in men with prostate cancer. It is manufactured by chelating precursor with68Ga, either from a generator or cyclotron, and has regulatory approval around the world. It is widely used clinically in conjunction with radioligand therapies like [177Lu]Lu-PSMA-617.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"565-582"},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758045","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}

引用次数: 0

Metabolomics for searching validated biomarkers in cancer studies: a decade in review. 在癌症研究中寻找有效生物标记物的代谢组学：十年回顾。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-06-21 DOI: 10.1080/14737159.2024.2368603

Ángeles López-López, Ángeles López-Gonzálvez, Coral Barbas

{"title":"Metabolomics for searching validated biomarkers in cancer studies: a decade in review.","authors":"Ángeles López-López, Ángeles López-Gonzálvez, Coral Barbas","doi":"10.1080/14737159.2024.2368603","DOIUrl":"10.1080/14737159.2024.2368603","url":null,"abstract":"Introduction: In the dynamic landscape of modern healthcare, the ability to anticipate and diagnose diseases, particularly in cases where early treatment significantly impacts outcomes, is paramount. Cancer, a complex and heterogeneous disease, underscores the critical importance of early diagnosis for patient survival. The integration of metabolomics information has emerged as a crucial tool, complementing the genotype-phenotype landscape and providing insights into active metabolic mechanisms and disease-induced dysregulated pathways.Areas covered: This review explores a decade of developments in the search for biomarkers validated within the realm of cancer studies. By critically assessing a diverse array of research articles, clinical trials, and studies, this review aims to present an overview of the methodologies employed and the progress achieved in identifying and validating biomarkers in metabolomics results for various cancer types.Expert opinion: Through an exploration of more than 800 studies, this review has allowed to establish a general idea about state-of-art in the search of biomarkers in metabolomics studies involving cancer which include certain level of results validation. The potential for metabolites as diagnostic markers to reach the clinic and make a real difference in patient health is substantial, but challenges remain to be explored.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"601-626"},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141431722","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}

引用次数: 0

The impact of next-generation sequencing for diagnosis and disease understanding of myeloid malignancies. 下一代测序对诊断和了解骨髓恶性肿瘤疾病的影响。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-07-01 Epub Date: 2024-07-25 DOI: 10.1080/14737159.2024.2383445

Erica Vormittag-Nocito, Madina Sukhanova, Lucy A Godley

{"title":"The impact of next-generation sequencing for diagnosis and disease understanding of myeloid malignancies.","authors":"Erica Vormittag-Nocito, Madina Sukhanova, Lucy A Godley","doi":"10.1080/14737159.2024.2383445","DOIUrl":"10.1080/14737159.2024.2383445","url":null,"abstract":"Introduction: Defining the chromosomal and molecular changes associated with myeloid neoplasms (MNs) optimizes clinical care through improved diagnosis, prognosis, treatment planning, and patient monitoring. This review will concisely describe the techniques used to profile MNs clinically today, with descriptions of challenges and emerging approaches that may soon become standard-of-care.Areas covered: In this review, the authors discuss molecular assessment of MNs using non-sequencing techniques, including conventional cytogenetic analysis, fluorescence in situ hybridization, chromosomal genomic microarray testing; as well as DNA- or RNA-based next-generation sequencing (NGS) assays; and sequential monitoring via digital PCR or measurable residual disease assays. The authors explain why distinguishing somatic from germline alleles is critical for optimal management. Finally, they introduce emerging technologies, such as long-read, whole exome/genome, and single-cell sequencing, which are reserved for research purposes currently but will become clinical tests soon.Expert opinion: The authors describe challenges to the adoption of comprehensive genomic tests for those in resource-constrained environments and for inclusion into clinical trials. In the future, all aspects of patient care will likely be influenced by the adaptation of artificial intelligence and mathematical modeling, fueled by rapid advances in telecommunications.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"591-600"},"PeriodicalIF":3.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758047","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}

引用次数: 0

Improving the diagnosis of tuberculosis: old and new laboratory tools. 改进结核病诊断：新旧实验室工具。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-06-05 DOI: 10.1080/14737159.2024.2362165

Priya Solanki, Linzy Elton, Isobella Honeyborne, Mirae Park, Giovanni Satta, Timothy D McHugh

{"title":"Improving the diagnosis of tuberculosis: old and new laboratory tools.","authors":"Priya Solanki, Linzy Elton, Isobella Honeyborne, Mirae Park, Giovanni Satta, Timothy D McHugh","doi":"10.1080/14737159.2024.2362165","DOIUrl":"10.1080/14737159.2024.2362165","url":null,"abstract":"Introduction: Despite recent advances in diagnostic technologies and new drugs becoming available, tuberculosis (TB) remains a major global health burden. If detected early, screened for drug resistance, and fully treated, TB could be easily controlled.Areas covered: Here the authors discuss M. tuberculosis culture methods which are considered the definitive confirmation of M. tuberculosis infection, and limited advances made to build on these core elements of TB laboratory diagnosis. Literature searches showed that molecular techniques provide enhanced speed of turnaround, sensitivity, and richness of data. Sequencing of the whole genome, is becoming well established for identification and inference of drug resistance. PubMed® literature searches were conducted (November 2022-March 2024).Expert opinion: This section highlights future advances in diagnosis and infection control. Prevention of prolonged hospital admissions and rapid TAT are of the most benefit to the overall patient experience. Host transcriptional blood markers have been used in treatment monitoring studies and, with appropriate evaluation, could be rolled out in a diagnostic setting. Additionally, the MBLA is being incorporated into latest clinical trial designs. Whole genome sequencing has enhanced epidemiological evidence. Artificial intelligence, along with machine learning, have the ability to revolutionize TB diagnosis and susceptibility testing within the next decade.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"487-496"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237016","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}

引用次数: 0

Current status of diagnostic assays for emerging zoonotic viruses: Nipah and Hendra. 新出现的人畜共患病病毒的诊断测定现状：尼帕病毒和亨德拉病毒。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-06-26 DOI: 10.1080/14737159.2024.2368591

Nancy Sharma, Vijay Lakshmi Jamwal, Sakshi Nagial, Manish Ranjan, Dharitri Rath, Sumit G Gandhi

{"title":"Current status of diagnostic assays for emerging zoonotic viruses: Nipah and Hendra.","authors":"Nancy Sharma, Vijay Lakshmi Jamwal, Sakshi Nagial, Manish Ranjan, Dharitri Rath, Sumit G Gandhi","doi":"10.1080/14737159.2024.2368591","DOIUrl":"10.1080/14737159.2024.2368591","url":null,"abstract":"Introduction: Nipah and Hendra viruses belong to the Paramyxoviridae family, which pose a significant threat to human health, with sporadic outbreaks causing severe morbidity and mortality. Early symptoms include fever, cough, sore throat, and headache, which offer little in terms of differential diagnosis. There are no specific therapeutics and vaccines for these viruses.Areas covered: This review comprehensively covers a spectrum of diagnostic techniques for Nipah and Hendra virus infections, discussed in conjunction with appropriate type of samples during the progression of infection. Serological assays, reverse transcriptase Real-Time PCR assays, and isothermal amplification assays are discussed in detail, along with a listing of few commercially available detection kits. Patents protecting inventions in Nipah and Hendra virus detection are also covered.Expert opinion: Despite several outbreaks of Nipah and Hendra infections in the past decade, in-depth research into their pathogenesis, Point-of-Care diagnostics, specific therapies, and human vaccines is lacking. A prompt and accurate diagnosis is pivotal for efficient outbreak management, patient treatment, and the adoption of preventative measures. The emergence of rapid point-of-care tests holds promise in enhancing diagnostic capabilities in real-world settings. The patent landscape emphasizes the importance of innovation and collaboration within the legal and business realms.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"473-485"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141456131","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}

引用次数: 0

The role of fecal biomarkers in individuals with inflammatory bowel disease. 粪便生物标志物在炎症性肠病患者中的作用。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-07-12 DOI: 10.1080/14737159.2024.2375224

Teagan S Edwards, Andrew S Day

{"title":"The role of fecal biomarkers in individuals with inflammatory bowel disease.","authors":"Teagan S Edwards, Andrew S Day","doi":"10.1080/14737159.2024.2375224","DOIUrl":"10.1080/14737159.2024.2375224","url":null,"abstract":"Introduction: Inflammatory bowel disease (IBD), encompassing Crohn's disease (CD) and Ulcerative Colitis (UC), is a relapsing and remitting condition. Noninvasive biomarkers have an increasingly important role in the diagnosis of IBD and in the prediction of future disease course in individuals with IBD. Strategies for the management of IBD increasingly rely upon close monitoring of gastrointestinal inflammation.Areas covered: This review provides an update on the current understanding of established and novel stool-based biomarkers in the diagnosis and management of IBD. It also highlights key gaps, identifies limitations, and advantages of current markers, and examines aspects that require further study and analysis.Expert opinion: Current noninvasive inflammatory markers play an important role in the diagnosis and management of IBD; however, limitations exist. Future work is required to further characterize and validate current and novel markers of inflammation. In addition, it is essential to better understand the roles and characteristics of noninvasive markers to enable the appropriate selection to accurately determine the condition of the intestinal mucosa.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"497-508"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590038","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}

引用次数: 0

A sandwich chemiluminescent magnetic microparticle immunoassay for cryptococcal antigen detection. 用于检测隐球菌抗原的夹心化学发光磁性微粒免疫分析法。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-06-19 DOI: 10.1080/14737159.2024.2369243

Junpu Li, Yan Guo

{"title":"A sandwich chemiluminescent magnetic microparticle immunoassay for cryptococcal antigen detection.","authors":"Junpu Li, Yan Guo","doi":"10.1080/14737159.2024.2369243","DOIUrl":"10.1080/14737159.2024.2369243","url":null,"abstract":"Background: Cryptococcosis is a global invasive mycosis associated with significant morbidity and mortality. Cryptococcal antigen (CrAg) testing from serum and cerebrospinal fluid (CSF) has been regarded as a gold standard for early diagnosis. This study aimed to develop and validate a rapid and sensitive sandwich chemiluminescent magnetic microparticle immunoassay (CMIA) for quantitative detection of CrAg in sera.Research design and methods: CMIA is based on magnetic beads modified with capture antibodies and biotinylated antibodies and Streptavidin-polyHRP, where biotinylated antibodies functioned as the recognition element and Streptavidin-polyHRP as the signal component. Assay parameters were first optimized, and then assay performances were evaluated.Results: Under optimized conditions, the total runtime of the CMIA was 22 min. The assay had a wide linear range (2 -10,000 ng/mL) and high analytical sensitivity (0.24 ng/mL), together with acceptable reproducibility, accuracy, and stability. Besides, it exhibited no cross-reactivity with other pathogens. Importantly, the assay showed 92.91% (95% CI, 80.97-93.02%) overall qualitative agreement with a commercial ELISA kit in a retrospective cohort of 55 cases with confirmed cryptococcal infection, and 72 controls without evidence of invasive fungal disease (IFD).Conclusion: These results demonstrated that the present study paved a novel strategy for reliable quantitative detection of CrAg in sera.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"533-540"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141327365","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}

引用次数: 0

Correlation between lipoprotein-associated phospholipase A2 and poststroke mild cognitive impairment. 脂蛋白相关磷脂酶 A2 与脑卒中后轻度认知障碍之间的相关性。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-07-03 DOI: 10.1080/14737159.2024.2370410

Yawei Cao, Xiaofeng Zhu, Jin Shang, Jinlong Zheng, Xiangyang Tian, Qiu Han, Jun Shen

{"title":"Correlation between lipoprotein-associated phospholipase A2 and poststroke mild cognitive impairment.","authors":"Yawei Cao, Xiaofeng Zhu, Jin Shang, Jinlong Zheng, Xiangyang Tian, Qiu Han, Jun Shen","doi":"10.1080/14737159.2024.2370410","DOIUrl":"10.1080/14737159.2024.2370410","url":null,"abstract":"Objectives: This study aimed to investigate the correlation between serum lipoprotein-associated phospholipase A2 (Lp-PLA2) and poststroke mild cognitive impairment (PSMCI).Methods: The patients included in the study were divided into PSMCI (68 cases) and cognitively normal (CN) (218 cases) groups and followed up for six months. Demographic and clinical data were collected. A logistic regression analysis was performed to determine whether Lp-PLA2 is an independent risk factor for PSMCI. Spearman's correlation analysis was used to examine the correlation between Lp-PLA2 levels and Montreal Cognitive Assessment (MoCA) scores. A receiver operating characteristic (ROC) curve analysis was performed to determine the diagnostic threshold value of Lp-PLA2 for PSMCI.Results: Serum Lp-PLA2 levels were significantly higher in the PSMCI group than in the CN group. The logistic regression analysis showed that Lp-PLA2 was an independent risk factor for PSMCI (OR = 1.05, 95% CI = 1.03-1.07). Spearman's correlation analysis revealed a significant correlation between the Lp-PLA2 levels and MoCA scores (R = -0.49). The area under the ROC curve for Lp-PLA2 was 0.849, and the threshold value for PSMCI occurrence was 236.8 ng/ml.Conclusions: Elevated serum Lp-PLA2 is an independent risk factor for PSMCI and may serve as a potential biomarker for PSMCI.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"541-547"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491495","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}

引用次数: 0

Cost analyses for malaria molecular diagnosis for research planners in India and beyond. 为印度及其他地区的研究规划人员提供疟疾分子诊断成本分析。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-05-20 DOI: 10.1080/14737159.2024.2356172

Vandana Panwar, Shivani Bansal, Charu Chauhan, Abhinav Sinha

{"title":"Cost analyses for malaria molecular diagnosis for research planners in India and beyond.","authors":"Vandana Panwar, Shivani Bansal, Charu Chauhan, Abhinav Sinha","doi":"10.1080/14737159.2024.2356172","DOIUrl":"10.1080/14737159.2024.2356172","url":null,"abstract":"Background: Malaria elimination mandates early and accurate diagnosis of infection. Although malaria diagnosis is programmatically dependent on microscopy/RDTs, molecular diagnosis has much better diagnostic accuracy. Higher cost of molecular diagnoses is a recognized challenge for use at the point of care. Because funding is always a recognized constraint, we performed financial cost-analyses of available molecular platforms for better utilization of available budget.Methods: Two strategies were applied to deduce the cost per sample. Strategy 1 included recurring components (RC) in minimum pack size, and biologist's time whereas strategy 2 included only RC and non-recurring components and costs are calculated for sample sizes (1-1,000,000) to infer the sample size effect.Results: Spin column-based manual DNA extraction (US$ 3.93 per sample) is the lowest-cost method, followed by magnetic bead-based automated, semi-automated, and PCI-based manual method. Further, DNA extraction cost per sample via spin column-based manual method and semi-automated method decreases with an increase in sample size up to 10,000. Real-time PCRs are ~ 2-fold more economical than conventional PCR, regardless of sample size.Conclusions: This study is the first for malaria to estimate systematic molecular diagnosis financial costs. Kit-based and automated methods may replace conventional DNA extraction and amplification methods for a frugal high-throughput diagnosis.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"549-559"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141070531","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}

引用次数: 0

Association between polymorphisms in TLR3, TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil. 巴西南部 TLR3、TICAM1 和 IFNA1 基因的多态性与 covid-19 严重程度之间的关系。

IF 3.9 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2024-06-01 Epub Date: 2024-06-17 DOI: 10.1080/14737159.2024.2367466

Matheus Braga, Mariana Akemi Sonoda Shiga, Pedro Emanuel Santiago Silva, Aléia Harumi Uchibaba Yamanaka, Victor Hugo Souza, Sergio Grava, Andréa Name Colado Simão, Janisleya Silva Ferreira Neves, Quirino Alves de Lima Neto, Joana Maira Valentini Zacarias, Jeane Eliete Laguila Visentainer

{"title":"Association between polymorphisms in TLR3, TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil.","authors":"Matheus Braga, Mariana Akemi Sonoda Shiga, Pedro Emanuel Santiago Silva, Aléia Harumi Uchibaba Yamanaka, Victor Hugo Souza, Sergio Grava, Andréa Name Colado Simão, Janisleya Silva Ferreira Neves, Quirino Alves de Lima Neto, Joana Maira Valentini Zacarias, Jeane Eliete Laguila Visentainer","doi":"10.1080/14737159.2024.2367466","DOIUrl":"10.1080/14737159.2024.2367466","url":null,"abstract":"Background: A distinct phenotype in Coronavirus disease 2019 (Covid-19) was observed in severe patients, consisting of a highly impaired interferon (IFN) type I response, an exacerbated inflammatory response.Objective: The aim of the present study was to investigate a possible association of single nucleotide polymorphisms (SNPs), in five genes related to the immune response, rs3775291 in TLR3; rs2292151 in TICAM1; rs1758566 in IFNA1; rs1800629 in TNF, and rs1800795 in IL6 with the severity of Covid-19.Methods: A cross-sectional study was performed, with non-severe and severe/critical patients diagnosed with Covid-19, by two public hospitals in Brazil. In total, 300 patients were genotyped for the SNPs, 150 with the non-severe form of the disease and 150 with severe/critical form.Results: The T/T genotype of TLR3 in recessive model shows 58% of protection against severe/critical Covid-19; as well as the genotypes G/A+A/A of TICAM1 in dominant model with 60% of protection, and in a codominant model G/A with 57% and A/A with 71% of protection against severe/critical Covid-19. Comparing severe and critical cases, the T/C genotype of IFNA1 in the codominant model and TC+C/C in the dominant model showed twice the risk of critical Covid-19.Conclusion: We can conclude that rs3775291, rs2292151 and rs1758566 can influence the COVID-19 severity.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"525-531"},"PeriodicalIF":3.9,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141305790","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}

引用次数: 0