Genetic testing and molecular biomarkers最新文献

{"title":"LINC00891 Attenuates the Proliferation and Metastasis of Osteosarcoma Cells via miR-27a-3p/TET1 Axis.","authors":"Shufang Zhang,&nbsp;Rongchun Chen","doi":"10.1089/gtmb.2023.0163","DOIUrl":"https://doi.org/10.1089/gtmb.2023.0163","url":null,"abstract":"<p><p><b><i>Objective:</i></b> There is currently no adequate treatment for osteosarcoma, a bone malignancy that poses a serious threat to adolescents and children. The dysregulation of long noncoding RNAs is associated with many cancers, including osteosarcoma. LINC00891 expression is aberrant in endometrial cancer, lung cancer, and thyroid cancer, and likely regulate the malignant behavior of cancer. However, the potential function and mechanisms of LINC00891 in osteosarcoma progression remain unclear. <b><i>Materials and Methods:</i></b> LINC00891, miR-27a-3p, and TET1 mRNA expression in osteosarcoma cells were analyzed using quantitative reverse transcription-polymerase chain reaction. CCK-8 and Transwell experiments were performed on osteosarcoma cells to investigate proliferation, migration, and invasion, respectively. Ten-eleven translocation 1 (TET1) protein was analyzed using western blotting. Luciferase experiment was performed to investigate the interactions between LINC00891 with miR-27a-3p, and miR-27a-3p with TET1. <b><i>Results:</i></b> LINC00891 expression was dramatically decreased in the five osteosarcoma cell lines examined, particularly in 143B and SaoS-2 cells. LINC00891 overexpression due to plasmid transfection sharply blocked the proliferation, migration, and invasion of osteosarcoma cells. Dual-luciferase reporter experiments found that LINC00891 sponges miR-27a-3p, and LINC00891 overexpression sharply decreases miR-27a-3p expression. Transfection with miR-27a-3p mimic accelerated the malignant behaviors in LINC00891 overexpressed-osteosarcoma cells. Moreover, TET1 was a novel targeted-gene of miR-27a-3p. TET1 protein was significantly impeded, whereas LINC00891 overexpression elevated TET1 mRNA and protein in osteosarcoma cells. MiR-27a-3p overexpression inhibited TET1 mRNA and protein in osteosarcoma cells. <b><i>Conclusions:</i></b> Our study verified that LINC00891 attenuates the proliferation and metastasis of osteosarcoma cells via the miR-27a-3p/TET1 axis. This study clarifies a new mechanism and therapeutic target for the development of osteosarcoma.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 8","pages":"248-257"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10149747","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":"Diagnose Quickly and Effectively: Now.","authors":"Dawn Barry,&nbsp;Sharon F Terry","doi":"10.1089/gtmb.2023.29075.persp","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29075.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 8","pages":"229-231"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10475343","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>RAD51</i>, <i>XRCC1</i>, <i>XRCC2</i>, and <i>XRCC3</i> Polymorphisms with Risk of Breast Cancer.","authors":"Priyanka Gupta,&nbsp;Vasudha Sambyal,&nbsp;Kamlesh Guleria,&nbsp;Manjit Singh Uppal,&nbsp;Meena Sudan","doi":"10.1089/gtmb.2023.0012","DOIUrl":"https://doi.org/10.1089/gtmb.2023.0012","url":null,"abstract":"<p><p><b><i>Background:</i></b> DNA repair genes are among the low-penetrance genes implicated in breast cancer. However variants of DNA repair genes may alter their protein function thus leading to carcinogenesis. Breast cancer is the most common cancer among women in India. The aim of the present study was to identify association, if any, of single nucleotide polymorphisms (SNP's) in four genes involved in DNA repair pathways including, <i>RAD51</i> rs1801320, <i>XRCC1</i> rs25487, <i>XRCC2</i> rs3218536, and <i>XRCC3</i> rs861539 with the risk of breast cancer. <b><i>Materials and Methods:</i></b> In this case-control study 611 female subjects (311 breast cancer patients and 300 healthy controls) were screened for four SNPs using polymerase chain reaction-restriction fragment length polymorphism analyses. Multifactor dimensionality reduction (MDR) analysis was performed to estimate the gene-gene interaction. Protein-protein interaction network analysis were studied using the STRING database. <b><i>Results:</i></b> The GC genotype (<i>p</i> = 0.018) and the combined GC+CC (<i>p</i> = 0.03) genotypes of <i>RAD51</i> rs1801320 were significantly associated with reduced risk of breast cancer. The CT genotype (<i>p</i> = 0.0001), the combined CT+TT genotypes (<i>p</i> = 0.0002), and the T allele (<i>p</i> = 0.0019) of <i>XRCC3</i> rs861539 polymorphism were associated with reduced risk of the breast cancer. No association of <i>XRCC1</i> rs25487 and <i>XRCC2</i> rs3218536 polymorphisms with breast cancer was observed. MDR analysis indicated a positive interaction between <i>XRCC3</i> and <i>XRCC2</i>. String network analysis showed that the RAD51, XRCC1, XRCC2, and XRCC3 proteins are in strong interaction with each other and other breast cancer-related proteins such as BRCA2. <b><i>Conclusion:</i></b> <i>RAD51</i> rs1801320 and <i>XRCC3</i> rs861539 polymorphisms were associated with reduced risk of breast cancer. There is evidence of positive interactions among <i>XRCC1</i>, <i>XRCC2</i>, <i>XRCC3</i>, and <i>RAD51</i>.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"205-214"},"PeriodicalIF":1.4,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10277145","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":"Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas.","authors":"Christina L Elling, Salina H Goff, Scott D Hirsch, Kaitlyn Tholen, Jennifer M Kofonow, Danielle Curtis, Charles E Robertson, Jeremy D Prager, Patricia J Yoon, Todd M Wine, Kenny H Chan, Melissa A Scholes, Norman R Friedman, Daniel N Frank, Brian W Herrmann, Regie Lyn P Santos-Cortez","doi":"10.1089/gtmb.2023.0132","DOIUrl":"10.1089/gtmb.2023.0132","url":null,"abstract":"<p><p><b><i>Background:</i></b> Otitis media (OM) is defined as middle ear (ME) inflammation that is usually due to infection. Globally, OM is a leading cause of hearing loss and is the most frequently diagnosed disease in young children. For OM, pediatric patients with Down syndrome (DS) demonstrate higher incidence rates, greater severity, and poorer outcomes. However, to date, no studies have investigated the bacterial profiles of children with DS and OM. <b><i>Method:</i></b> We aimed to determine if there are differences in composition of bacterial profiles or the relative abundance of individual taxa within the ME and nasopharyngeal (NP) microbiotas of pediatric OM patients with DS (<i>n</i> = 11) compared with those without DS (<i>n</i> = 84). We sequenced the 16S rRNA genes and analyzed the sequence data for diversity indices and relative abundance of individual taxa. <b><i>Results:</i></b> Individuals with DS demonstrated increased biodiversity in their ME and NP microbiotas. In children with OM, DS was associated with increased biodiversity and higher relative abundance of specific taxa in the ME. <b><i>Conclusion:</i></b> Our findings suggest that dysbioses in the NP of DS children contributes to their increased susceptibility to OM compared with controls. These findings suggest that DS influences regulation of the mucosal microbiota and contributes to OM pathology.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"221-228"},"PeriodicalIF":1.1,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10216039","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":"Evaluating the Clinical Application of Automatic Chromosome Harvesting for Prenatal Karyotype Analysis.","authors":"Yunmeng Wang,&nbsp;Yifan Feng,&nbsp;Chanchan Ma,&nbsp;Jing Zhao,&nbsp;Shiying Sun","doi":"10.1089/gtmb.2023.0047","DOIUrl":"10.1089/gtmb.2023.0047","url":null,"abstract":"<p><p><b><i>Objective:</i></b> The clinical value of an automatic chromosome harvester was evaluated, which included a comparison between the manual and automatic harvesting for the isolation of amniotic fluid cell chromosomes. <b><i>Methods:</i></b> Amniotic fluid samples from 96 high-risk gravida cases identified at 17-25 weeks treated at the Prenatal Diagnostic and Reproductive Center from June to July 2022 were collected. These samples underwent both manual and automatic chromosome collection, and their harvest time and number of amniotic cells were compared. These chromosomes were then used to produce karyotypic data for each sample using an automatic chromosomal karyotype analysis system, scan karyotype. <b><i>Results:</i></b> The average automatic harvesting time per sample, 3.92 min, was significantly lower than that of the manual harvesting, 7.89 min (<i>p</i> < 0.001). In addition, the average number of cells from the automatic harvesting (4.16 × 10⁶ pieces) was significantly increased when compared with those of the manual group (2.10 × 10⁶ pieces; <i>p</i> < 0.001). Further karyotyping revealed that both sets of chromosomes produced clear bands and good dispersion data, producing no significant differences in these evaluations (<i>p</i> > 0.05). However, the number of analyzable karyotypes obtained using the automatic harvester was significantly higher than those of the manual harvesting (<i>p</i> < 0.001). <b><i>Conclusions:</i></b> The automatic chromosome harvester can effectively save time, manual labor and consumables, harvest more analyzable karyotypes, and improve the efficiency of clinical diagnosis. The automatic chromosome harvester is highly stable and repeatable, which has the potential to help achieve large-scale standardized chromosome harvesting and is worthy of widespread clinical promotion.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"215-220"},"PeriodicalIF":1.4,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9895544","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":"The Application of Artificial Intelligence in the Diagnosis of Cancer and Rare Genetic Diseases.","authors":"Danielle Donadio,&nbsp;Sharon F Terry","doi":"10.1089/gtmb.2023.29074.persp","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29074.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"203-204"},"PeriodicalIF":1.4,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10117425","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":"Role of Genetic Polymorphism and Expression of Angiopoietin-2 in Patients with Primary Liver Cancer Among the Southeastern Chinese Hans Population.","authors":"Bin Wang,&nbsp;Yunxiao Lv,&nbsp;Shenjian Ye,&nbsp;Jin Zhao,&nbsp;Xinling Pan","doi":"10.1089/gtmb.2022.0198","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0198","url":null,"abstract":"<p><p><b><i>Background:</i></b> Angiopoietin-2 <b>(</b>Ang2)-mediated angiogenesis plays a crucial role in the pathogenesis of vascular-rich cancers. However, the genetic polymorphism and expression level of Ang2 in patients with primary liver cancer remain unknown. <b><i>Methods:</i></b> This study included 234 primary liver cancer patients and 199 healthy controls. The expression levels of Ang2 in liver cancer tissues and plasma were determined. Peripheral blood samples were collected to test five <i>ANGPT2</i> single nucleotide polymorphisms (rs2442598, rs734701, rs1823375, rs11137037, and rs12674822). <b><i>Results:</i></b> Plasma Ang2 levels in patients with liver cancer were upregulated compared with that in healthy controls. The upregulation of plasma Ang2 levels was significantly associated with vascular invasion, metastasis, and clinical stage. Notably, the transcription level of <i>ANGPT2</i> was elevated in tumor tissues compared with para-carcinoma tissues. Individuals with the TT genotype at rs2442598 and genotype AC and AC+CC at rs11137037 had higher liver cancer risk compared with healthy controls. <b><i>Conclusions:</i></b> Upregulated Ang2 levels in blood plasma and cancer tissues of liver cancer patients confirm that Ang2 plays a vital role in the pathogenesis of liver cancer. <i>ANGPT2</i> rs2442588 and rs11137037 are associated with liver cancer risk, thereby highlighting their role in screening individuals susceptible to liver cancer.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"193-198"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9760387","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":"Impact of PIWIL1 Single Nucleotide Polymorphisms on Gastric Cancer Risk in a Chinese Population.","authors":"Dan Hu,&nbsp;Laicheng Wang,&nbsp;Xin Chen,&nbsp;Yunchai Lin,&nbsp;Shunpeng Zhang,&nbsp;Zongcheng Fan,&nbsp;Feng Peng","doi":"10.1089/gtmb.2022.0061","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0061","url":null,"abstract":"<p><p><b><i>Background:</i></b> PIWI-like proteins contribute to the onset and progression of carcinogenesis. Whether single nucleotide polymorphisms (SNPs) in the PIWI-like 1 (PIWIL1) gene affect the morbidity and mortality of gastric cancer (GC) remains unclear. To investigate the efficacy of PIWIL1 SNPs genotype on the morbidity and mortality of GC and its interaction within PIWIL1 gene SNPs variation and between elevated plasma glucose. <b><i>Materials and Methods:</i></b> We conducted a case-control study that contained 216 GC patients and 204 cancer-free controls to compare differential expression of PIWIL1 SNPs. <b><i>Results:</i></b> PIWIL1 gene rs1106042 AA and AG genotypes were associated with significantly reduced GC risk (odds ratio [OR]: 0.15 and 0.26, <i>p</i> < 0.001 and <i>p</i> = 0.016), and rs10773771 CT+CC type significantly increased cancer risk (OR: 1.54 <i>p</i> = 0.037). We observed strong associations between rs10773771 and pathological type (<i>p</i> = 0.012), rs11703684, and invasion depth (<i>p</i> = 0.012). We noticed significant gene-gene interaction between rs1106042 and rs10773771 (<i>p</i> = 0.0107). Interaction between the copresence of rs1106042 GG plus hyperglycemia was also significant (relative excess risk due to interaction: 28.78, attributable proportion due to interaction: 68.2%, synergy index: 3.32). Patients with rs1892723 TT and rs1892722 GG+GA type had better survival (<i>p</i> = 0.030 and <i>p</i> = 0.048). <b><i>Conclusion:</i></b> rs10773771 CT+CC was associated with GC risk increase, rs1106042 AA and AG function as a protective factor. rs1892723 CT+TT and rs1892722 AA type may portend a poor prognosis. Elevated fasting plasma glucose will significantly increase the risk of PIWIL gene rs1106042 GG carcinogenesis by multiplicative interaction.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"185-192"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9760386","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":"Creating a Path for Gene and Cell Therapies to Be Accessible to Patients.","authors":"Helen Albert","doi":"10.1089/gtmb.2023.29073.hal","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29073.hal","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"199-201"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9761766","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":"The Applicability of Polygenic Risk Scores in Under-Represented Populations.","authors":"Katie Riefski,&nbsp;Sharon F Terry","doi":"10.1089/gtmb.2023.29072.persp","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29072.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 6","pages":"183-184"},"PeriodicalIF":1.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9791897","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}