Genetic testing and molecular biomarkers最新文献

{"title":"Association of ANRIL Gene Polymorphisms with Gastric Cancer Risk: A Case-Control Study.","authors":"Samaneh Hasani, Farhad Pourfarzi, Mohammad Mazani, Abbas Yazdanbod, Aliakbar Fazaeli","doi":"10.1089/gtmb.2024.0302","DOIUrl":"10.1089/gtmb.2024.0302","url":null,"abstract":"<p><p><b><i>Background:</i></b> Gastric cancer's (GC) cause is unknown, but its complexity indicates that, in addition to environmental factors, it may have genetic origins. Scientists are studying single-nucleotide polymorphisms (SNPs) in the antisense noncoding RNA in the INK4 locus (ANRIL) gene, which encodes a long noncoding RNA molecule. They found a link between the ANRIL gene product and some polymorphisms and GC, suggesting genetic changes may lead to precancerous conditions. <b><i>Methods:</i></b> In a case-control research that included 250 patients with GC and 210 controls who were age- and gender-matched, four SNPs within the ANRIL gene were genotyped. These SNPs were rs1333049, rs496892, rs2383207, and rs2151280. Tetra-primer amplification refractory mutation system-PCR was utilized to carry out the process of genotyping. <b><i>Results:</i></b> It was found that the chance of developing GC was connected with three SNPs rs2151280, rs1333049, and rs496892. Nevertheless, rs2383207 did not demonstrate any meaningful connection. In addition, whereas CCTC and TTCC haplotypes were shown to be less common, certain haplotypes that contained these SNPs (TTCG, TCTC, and TTTC) displayed a considerably higher prevalence in the cancer group in comparison to the control group. <b><i>Conclusion:</i></b> This study showed novel associations between specific ANRIL gene polymorphisms (SNPs) and the risk of GC. These findings shed light on the potential role of ANRIL SNPs in GC risk and highlight the need for additional research to clarify the underlying functional processes. Understanding these functional processes might lead to developing novel diagnostic or treatment approaches for this cancer.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"445-451"},"PeriodicalIF":16.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142389695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Multigene Methylation for Blood-Based Detection of Colorectal Cancer.","authors":"Yingshuo Xu, Ailin Tan, Rui Liang, Huaidong Qu, Xiankun Li, Zhiqiang Wang","doi":"10.1089/gtmb.2023.0754","DOIUrl":"10.1089/gtmb.2023.0754","url":null,"abstract":"<p><p><b><i>Background:</i></b> Early screening for colorectal cancer (CRC) has the potential to improve patient prognosis, but current screening methods are limited. In this prospective study, we aimed to evaluate the multigene (<i>Septin9, SDC2, KCNQ5,</i> and <i>IKZF1</i>) detection in patient plasma for CRC diagnosis. <b><i>Methods:</i></b> Overall, 67 participants were enrolled, including 31 patients with CRC, 17 patients with colorectal polyp, and 19 normal controls who underwent colonoscopy. Carcinoembryonic antigen (CEA) and <i>Septin9, SDC2, KCNQ5</i>, and <i>IKZF1</i> methylation tests were performed. Sensitivity, specificity, and the area under the receiver operating characteristic (ROC) curve were used to evaluate the diagnostic value of each biomarker. The association between positive rates of methylated <i>Septin9, SDC2, KCNQ5</i>, and <i>IKZF1</i> and the clinicopathological characteristics of CRC was also analyzed. <b><i>Results:</i></b> The positive rate of multigene methylation detection was 87.1% (27/31) in patients with CRC, which was higher than single indicators: CEA (51.61%, 16/31), <i>Septin9</i> (41.94%, 13/31), <i>SDC2</i> (41.94%, 13/31), <i>KCNQ5</i> (58.06%, 18/31), and <i>IKZF1</i> (32.26%, 10/31). In the colorectal polyp group, the rate of multigene methylation detection is 88.24% (15/17), which was also higher than single indicator: CEA (17.65%, 3/17), <i>Septin9</i> (11.76%, 2/17), <i>SDC2</i> (64.71%, 11/17), <i>KCNQ5</i> (58.82%, 10/17), and <i>IKZF1</i> (35.29%, 6/17). The ROC curves further showed better diagnostic value of the multigene test for CRC than any single gene. Correlation analysis found that the positive rate of the test was not affected by patients' clinicopathologic characteristics. <b><i>Conclusion:</i></b> The combination of methylated <i>Septin9, SDC2, KCNQ5</i>, and <i>IKZF1</i> tests is preferable to individual gene tests for patients with CRC and polyp.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"402-409"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142283951","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":"Human Leukocyte Antigen-G Gene Polymorphism in Peninsular Malaysia: A Preliminary Report.","authors":"Che Ghazali Norul Hajar, Zulkafli Zefarina, Nor Suhaila Md Riffin, Tuan Hulwani Tuan Mohammad, Mohd Nazri Hassan, Sharifah-Nany Rahayu-Karmilla Syed-Hassan, Mohd Yusmaidie Aziz, Abd Rashid Nur Haslindawaty, Geoffrey Keith Chambers, Hisham Atan Edinur","doi":"10.1089/gtmb.2023.0492","DOIUrl":"10.1089/gtmb.2023.0492","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> Expression of the nonclassical human leukocyte antigen (<i>HLA</i>)<i>-G</i> gene is upregulated in placenta during pregnancy. In other cells, HLA-G is upregulated during parasitic infections and allergic reactions. Polymorphism at the <i>HLA-G</i> gene locus has been reported for many populations, but so far not for any ethnic groups in Malaysia. In this survey, we screened for genetic variation in <i>HLA-G</i> genes from representative Malay, Chinese, and Indian individuals living in Peninsular Malaysia. <b><i>Materials and Methods:</i></b> Blood samples were obtained with informed consent, and ethnicity classes were assigned based on self-declared pedigree information. Exons 2, 3, and 4 of the <i>HLA-G</i> gene were amplified by polymerase chain reaction and subjected to Sanger sequencing. <b><i>Results:</i></b> The most common genotype in Malays and Indians was found to be <i>HLA-G*01:01:01:01/01:01:01:01</i> with frequencies of 0.206 and 0.167, respectively, whereas the <i>HLA-G*01:01:03:01/01:01:01:01</i> genotype was the one most frequently observed in Chinese (0.221). Based on this study, <i>HLA-G*01:01:01:01</i> (0.427-0.448) is the most frequent <i>HLA-G</i> allele in the all three ethnic groups. In contrast, <i>HLA-G*01:01:02:01</i> (0.186) was observed as the second most frequent <i>HLA-G</i> allele in Malays and <i>HLA-G*01:04:01</i> in Chinese and Indians, (0.188-0.198, respectively). Several minor <i>HLA-G</i> alleles were detected at low frequency in Malays, Chinese, or Indians (<i>HLA-G*01:01:05</i>, <i>01:01:09</i>, <i>01:04:02</i>, and <i>01:04:03</i>). These have only rarely, if ever, been reported in other population groups. Subsequent statistical analysis including using principal coordinate data mapping showed the Malays, Chinese, and Indians are distinct but quite closely related to one another as compared with other population groups from across Europe and Africa. <b><i>Conclusion:</i></b> The HLA-G population data collected in this study showed that the ancestrally unrelated Malays, Chinese, and Indians are genetically distinct. This new database provides a foundation for further studies to capture <i>HLA-G</i> allelic diversity in uncharacterized populations of Malaysia and for future attempts to identify their roles in disease resistance and susceptibility.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"393-401"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142283952","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":"Whole-Genome Sequencing of Newly Emerged Fungal Pathogen <i>Aspergillus Lentulus</i> and Its Azole Resistance Gene Prediction.","authors":"Xiaodong Wang, Aikedai Yusufu, Hadiliya Hasimu, Paride Abliz","doi":"10.1089/gtmb.2024.0002","DOIUrl":"https://doi.org/10.1089/gtmb.2024.0002","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;&lt;i&gt;Aims:&lt;/i&gt;&lt;/b&gt; &lt;i&gt;Aspergillus lentulus&lt;/i&gt; is an important newly recorded species in the &lt;i&gt;A. fumigatus&lt;/i&gt; complex and its resistance to azole drugs and the high mortality rate of infected individuals have emerged as problems. Comprehensive understanding of the &lt;i&gt;A. lentulus&lt;/i&gt; is limited due to lack of genome-wide fine mapping data. The aim of this study was to investigate the &lt;i&gt;A. lentulus&lt;/i&gt; signature at the molecular level, analyze the genome-wide profile of this strain, and predict its possible genes that execute azole resistance. &lt;b&gt;&lt;i&gt;Methods:&lt;/i&gt;&lt;/b&gt; In this study, a whole-genome sequencing of a clinically isolated &lt;i&gt;A. lentulus&lt;/i&gt; strain (named &lt;i&gt;A. lentulus&lt;/i&gt; PWCAL1) was studied by PacBio Sequel sequencing platform. Azole resistance genes were predicted based on whole-genome sequencing data analysis, gene function annotation, comparative genomic analysis, and BLASTP alignment using the Mycology Antifungal Resistance Database to comprehensively understanding the genome-wide features, pathogenicity, and resistance mechanisms of &lt;i&gt;A. lentulus&lt;/i&gt;. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; The results of whole-genome sequencing demonstrated that the total length of &lt;i&gt;A. lentulus&lt;/i&gt; PWCAL1 genome was 31255105 bp, the GC content was 49.24%, and 6883 coding genes were predicted. A total of 4565, 1824, and 6405 genes were annotated in the Gene Ontology, Clusters of Orthologous Groups, and Kyoto Encyclopedia of Genes and Genomes databases, respectively. In the Pathogen Host Interactions Database and the Database of Fungal Virulence Factors, 949 and 259 interacting virulence factors were identified, respectively, with the main virulence factor-mutant virulence phenotype, being enriched in reduced virulence. Comparative genomic analysis showed that there were 5456 consensus core genes in this strain and four closely related strains of &lt;i&gt;A. fumigatus&lt;/i&gt; complex, which were mainly involved in human diseases, metabolism, organismal systems, etc. Among the three aligned &lt;i&gt;A. lentulus&lt;/i&gt; strains, the number of unique genes of this bacterium was the highest with a number of 171, and these genes were mainly associated with carbohydrate metabolism and cell growth and death. Resistance gene prediction demonstrated that the A5653 gene of this bacterium had &lt;i&gt;F46Y/N248T&lt;/i&gt; double point mutations on the &lt;i&gt;CYP51A&lt;/i&gt; gene, but no tandem repeat mutations in the promoter region were detected. Furthermore, 12 genes belonging to the fungal multidrug resistance ATP-binding cassette (ABC) transporters were identified based on the complete genome sequence and phylogenetic analysis of A. lentulus, which belonged to the ALDp subfamily, the PDR subfamily (&lt;i&gt;AtrB&lt;/i&gt;, &lt;i&gt;CDR1&lt;/i&gt;, and &lt;i&gt;CDR2&lt;/i&gt;), and the MDR subfamily (&lt;i&gt;MDR1&lt;/i&gt;), respectively, and there were four genes that are annotated to the major facilitator superfamily multidrug transporter. Further phylogenetic tree classification of the ABC transporter subfamilies predicted in the nine selected ","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"28 10","pages":"410-430"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142462817","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":"Analysis of <i>ANO6, HAPLN1</i>, and <i>EDIL3</i> Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.","authors":"Zijian Lian, Wei Luo, Jun Liu, Jing Wang, Wei Chai, Yan Wang, Sahil Sethi, Xinlong Ma","doi":"10.1089/gtmb.2023.0569","DOIUrl":"10.1089/gtmb.2023.0569","url":null,"abstract":"<p><p><b><i>Background:</i></b> Earlier research has demonstrated a genetic basis for the susceptibility to ankylosing spondylitis (AS) and the severity of AS. By employing a genome-wide association study, recent work has established a correlation between the susceptibility to AS and the <i>ANO6, HAPLN,</i> and <i>EDIL3</i> genes in a Western study population-though alternative studies have not corroborated these findings. This study aims to examine the effects of <i>ANO6</i>, <i>HAPLN1</i>, and <i>EDIL3</i> polymorphisms on the susceptibility and severity of AS among the predominantly Chinese Han population. <b><i>Methods:</i></b> The study involved the collection of blood samples from 497 patients with AS and 498 nonrelated healthy individuals. All participants in the study were human leukocyte antigen (HLA) HLA-B27 positive and of Han Chinese descent. Illness severity was the criteria used for classifying patients with AS. Thirteen tagSNPs in <i>ANO6</i>, <i>HAPLN1</i>, and <i>EDIL3</i> were chosen and then subjected to genetic typing. Analysis was conducted on the occurrence rates of various genotypes and alleles between the control group and patients with varying AS severity. <b><i>Results:</i></b> Following Bonferroni correction, it was found that the rs4768085 and rs17095830 single nucleotide polymorphism (SNPs) in <i>ANO6</i> were related to the susceptibility to AS. Further, the rs6869296 SNP in <i>HAPLN1</i> and the rs2301071 SNP between <i>EDIL3</i> and <i>HAPLN1</i> were also related to AS susceptibility. Regarding AS severity, the rs4768085, rs2897868, rs7965430, and rs11182965 SNPs in <i>ANO6</i> were found to be associated. <b><i>Conclusions:</i></b> Among the Han population in China, the <i>ANO6 and HAPLN1</i> genes are related to the susceptibility to AS; the <i>ANO6</i> gene is also associated with the severity of AS.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"385-392"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365022","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":"Relationship Between IL-10 Single Nucleotide Polymorphisms (rs1800871, rs1800872, and rs1800896) and the Severity of COVID-19.","authors":"Hossein Azadinejad,Parisa Feizollahi,Alireza Rezaeimanesh,Farhad Salari,Ali Gorgin Karaji","doi":"10.1089/gtmb.2024.0276","DOIUrl":"https://doi.org/10.1089/gtmb.2024.0276","url":null,"abstract":"Background: Interleukin-10 (IL-10) is an anti-inflammatory cytokine whose levels are elevated in patients with severe COVID-19. IL-10 polymorphisms may play a role in increasing IL-10 levels and the severity of COVID-19. This study aimed to investigate the relationship between IL-10 single nucleotide polymorphisms (SNPs) (rs1800896 [-1082 C < T], rs1800871 [-819 A > G], and rs1800872 [-592 T > G]) and the severity of COVID-19 in patients from Kermanshah Province, Iran. Methods: A total of 150 patients with mild COVID-19 (84 men and 66 women aged 40.1 ± 12.44 years) and 143 patients with severe COVID-19 (76 men and 67 women aged 61.04 ± 15.65 years) participated in this study. Blood samples were collected from the patients, DNA was extracted, and the genotype of each SNPs was determined using the polymerase chain reaction-restriction fragment length polymorphism method. Result: The results of this study did not show a significant relationship between the genotypes of the three studied SNPs and the severity of COVID-19 (p > 0.05). Conclusion: According to our findings, these SNPs were not associated with COVID-19 severity in patients in Kermanshah.","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"10 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142209334","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":"Genomic Landscape of Osteosarcoma of Bone in an Older-Aged Patient Population and Analysis of Possible Etiologies Based on Molecular Signature.","authors":"Hatem Kaseb, Chichun Tan, Jeffrey P Townsend, Jose Costa, William B Laskin","doi":"10.1089/gtmb.2024.0080","DOIUrl":"10.1089/gtmb.2024.0080","url":null,"abstract":"<p><p><b><i>Background:</i></b> Osteosarcoma (OS), the most common primary malignant bone tumor, occurs mostly in the pediatric and adolescent (P/A) population where it has been subject to intense study whereas OS arising in the older-aged adult population has undergone less scrutiny. <b><i>Materials and Methods:</i></b> In this study, we assess the molecular aberrations detected in eight older adult patients (>59 years of age) with OS of bone by whole-exome sequencing (WES) on formalin-fixed, paraffin-embedded tissue and quantified the contributions of endogenous and exogenous mutational processes to tumor mutational burden and to tumorigenesis through computational analysis. <b><i>Results:</i></b> We identified 86 clinically significant somatic mutations. <i>TP53</i> mutations occurred in OSs of three patients and one patient harbored a pathogenic germline mutation of <i>TP53</i>. Loss-of-heterozygosity of DNA-damage repair genes occurred in all six tumors evaluated. Computational analysis of single nucleotide variants within each tumor detected eight distinct mutagenic processes of which age-associated mutational processes, thiopurine chemotherapy, and defective homologous DNA recombination repair contributed the most to both tumor mutation burden and tumor pathogenesis. <b><i>Conclusion:</i></b> The genomic landscape of our older OS patients deciphered by WES is extremely diverse with only 15% of mutated somatic genes uncovered in our study previously described in P/A-enriched OS studies. Endogenous age-related mutagenic processes, defective DNA homologous recombination repair, and exogenous effects of chemotherapy are mainly responsible for pathogenic mutations in OS occurring in our cohort.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"351-359"},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758201","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 C->T Variation in 3'-Untranslated Region Elevates MED12 Protein Level in Breast Cancer That Relates to Better Prognosis.","authors":"Jianbin Chen, Tairen Wang, Weina Mu","doi":"10.1089/gtmb.2023.0641","DOIUrl":"10.1089/gtmb.2023.0641","url":null,"abstract":"<p><p><b><i>Objective:</i></b> Mediator complex subunit 12 (MED12) is among the most frequently mutated genes in various types of human cancers. However, there is still a lack of understanding regarding the role of MED12 in breast cancer patient. Therefore, the aim of this study is to explore the roles of MED12 in breast cancer. <b><i>Materials and Methods:</i></b> We utilized the UALCAN platform (http://ualcan.path.uab.edu/) for analyzing the transcriptional expression, protein expression, and protein phosphorylation data of MED12. Our study involved 35 breast cancer patients. From these samples, we extracted proteins and RNA. To obtain the sequence of MED12 3'-UTR, we performed reverse transcription-polymerase chain reaction and sequencing. We then used TargetScan to predict the miRNA targets of MED12 3'-UTR and confirmed the interactions between miRNAs and MED12 3'-UTR through dual luciferase assay. <b><i>Results:</i></b> The protein level of MED12 was upregulated in breast cancer, while the mRNA level did not show significant changes. Interestingly, higher levels of MED12 mRNA were associated with better prognosis, whereas patients with increased MED12 protein levels tended to have a poorer prognosis. Furthermore, through our analysis of the MED12 3'-UTR sequence, we identified a specific C->T variation that was unique to breast tumors. We also identified four miRNAs (miR-204, -211, -450 b, and -518a) that directly target MED12 3'-UTR. Most important, this C->T variation disrupts the interaction between MED12 3'-UTR and miR-450b, ultimately leading to the upregulation of MED12 in breast cancer. <b><i>Conclusion:</i></b> Our study revealed a significant finding regarding a mutation site in the MED12 3'-UTR that contributes to the upregulation of MED12 in breast cancer. This mutation disrupts the interactions between specific miRNAs and MED12 mRNA, leading to increased expression of MED12. These findings have important implications for breast cancer diagnosis, as this mutation site can serve as a potent biomarker.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"343-350"},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008588","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":"Kawasaki Disease: An update on Genetics and Pathophysiology.","authors":"Evdoxia Sapountzi, Eleni P Kotanidou, Vasiliki-Rengina Tsinopoulou, Kallirhoe Kalinderi, Liana Fidani, Andreas Giannopoulos, Assimina Galli-Tsinopoulou","doi":"10.1089/gtmb.2024.0035","DOIUrl":"10.1089/gtmb.2024.0035","url":null,"abstract":"<p><p>Kawasaki disease (KD), a systemic vasculitic condition predominantly affecting children, remains a significant challenge in pediatric health care. First identified in 1967, KD is now recognized as the primary cause of pediatric ischemic heart disease in developed countries. This review provides a comprehensive update of KD, focusing on biomarkers, pathophysiology, and genetic associations. KD's clinical manifestation, including symptoms such as persistent fever and mucocutaneous changes, often overlaps with other pediatric conditions, complicating its diagnosis. This ambiguity, especially in cases of incomplete KD, highlights the critical need for specific biomarkers and more precise diagnostic methods. Recent studies have made promising advancements in identifying serum biomarkers and microRNAs, contributing to the development of rapid diagnostic tools. However, these are yet to be fully integrated into clinical practice. The article focuses on the pathophysiological aspects of KD, highlighting the potential for targeted therapies and personalized medicine approaches based on genetic predispositions. Collaborative efforts in global research and raising public awareness about KD are emphasized as key strategies for improving its management. This review presents the current understanding of KD while pointing out the gaps and future directions in research and clinical care. The ultimate goal is to enhance diagnostic accuracy, optimize treatment strategies, and improve patient outcomes, thereby addressing the complexities of this enigmatic and potentially life-threatening condition in pediatric medicine.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"373-383"},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055378","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":"Mannose-Binding Lectin Gene Variants as Disease Susceptibility Biomarkers in Rheumatoid Arthritis.","authors":"Tarnjeet Kaur, Shreya Singh Kashyap, Sumeet Arora, Jatinder Singh, Manpreet Kaur","doi":"10.1089/gtmb.2024.0082","DOIUrl":"10.1089/gtmb.2024.0082","url":null,"abstract":"<p><p><b><i>Background</i>:</b> Rheumatoid arthritis (RA) is a chronic, inflammatory autoimmune disease characterized by progressive destruction of peripheral joints. About 1% of the human population worldwide is suffering from this disease. The pathophysiology of RA is largely being influenced by immune dysregulation. Mannose-binding lectin (MBL), an acute-phase protein, has been reported to play an important role in pathogenesis of RA by the activation of complement pathway. Various studies documented the established the role of MBL in pathogenesis of various autoimmune diseases, including RA. MBL protein is encoded by gene <i>MBL2</i>, mapped on chromosome 10q11.2-q21. <b><i>Objective:</i></b> Both MBL serum levels and activity are mainly determined genetically by its variants. So considering the putative clinical role of <i>MBL2</i>, this case-control association study was designed to assess its six functional variants in a northwestern Indian cohort. <b><i>Methods:</i></b> Genetic typing of six <i>MBL2</i> variants was done by amplification refractory mutation system-polymerase chain reaction. Data were analyzed using suitable statistical tools. <b><i>Results:</i></b> Significant difference has been observed in genotypic and allelic distribution between cases and controls for rs11003125. Comparison of allelic distribution for rs1800450 showed significantly high prevalence of A allele in cases than controls. <b><i>Conclusion:</i></b> These results indicate that <i>MBL2</i> variants may act as plausible marker for susceptibility toward RA. Keeping this in view, it is pertinent to screen these variants in other population groups of India.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"360-366"},"PeriodicalIF":1.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633066","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}