Genetic testing and molecular biomarkers最新文献

{"title":"hsa-miR-1301-3p Promotes the Proliferation and Migration of Nonsmall Cell Lung Cancer Cells and Reduces Radiosensitivity via Targeting Homeodomain-Only Protein Homeobox.","authors":"Mei Qu, Zhiliang Jin, Yanhua Xu, Wenjie Sun, Yuan Luo, Nannan Zhang, Zhengrong Huang, Linzhi Han, Yan Gong, Conghua Xie","doi":"10.1089/gtmb.2022.0214","DOIUrl":"10.1089/gtmb.2022.0214","url":null,"abstract":"<p><p><b><i>Background:</i></b> There is increasing evidence that abnormal expression of microRNAs is involved in the occurrence and progression of tumors. In previous experiments, we found that the content of hsa-miR-1301-3p in tumor tissues of patients with nonsmall cell lung cancer (NSCLC) showed an obvious upward trend compared with that in normal tissues. We performed a detailed study on the impact and underlying mechanism of hsa-miR-1301-3p in NSCLC cells. <b><i>Methods:</i></b> The impact of hsa-miR-1301-3p on NSCLC cell proliferation, apoptosis, migration, and invasion was examined using colony formation, flow cytometry, modified Boyden chamber, and wound healing assays. Different doses of radiation were applied to NSCLC cells to investigate their sensitivity to radiotherapy. The potential target gene of hsa-miR-1301-3p was determined by dual-luciferase reporter assay and immunoblotting. <b><i>Result:</i></b> hsa-miR-1301-3p was upregulated in NSCLC tissues and cells. hsa-miR-1301-3p effectively promoted the rapid proliferation, migration, and invasion of NSCLC cells, while inhibiting apoptosis. It also induced radioresistance in NSCLC cells. hsa-miR-1301-3p targeted the homeodomain-only protein homeobox (HOPX) mRNA 3' untranslated region and inhibited its transcription in NSCLC cells. Exogenous HOPX overexpression antagonized the mechanism by which hsa-miR-1301-3p regulates NSCLC cell proliferation, metastasis, and apoptosis. <b><i>Conclusions:</i></b> hsa-miR-1301-3p plays an oncogenic role in the occurrence and development of NSCLC. By targeting HOPX, hsa-miR-1301-3p can not only promote the proliferation and metastasis of NSCLC cells, but also alleviate apoptosis and reduce radiosensitivity.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 12","pages":"393-405"},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139073846","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":"Frequency of Epidermal Growth Factor Receptor Gene Variant in Roma Population.","authors":"Soňa Mačeková, Matúš Mathia, Dana Dojčáková","doi":"10.1089/gtmb.2023.0377","DOIUrl":"10.1089/gtmb.2023.0377","url":null,"abstract":"<p><p><b><i>Aims:</i></b> The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (<i>EGFR</i>) gene causes neonatal inflammatory skin and bowel disease 2, a disorder that is lethal during infancy due to skin infections and sepsis. This variant seems to be restricted to people of Roma origin with the majority of patients thus far reported being from Slovakia or the Czech Republic. The aim of this study was to establish the frequency of this variant in the Roma population in Slovakia. <b><i>Methods:</i></b> A population sample of 1321 unrelated healthy individuals of Roma origin from Slovakia was tested for the p.GLY428Asp variant in <i>EGFR</i> gene by real-time PCR. <b><i>Results:</i></b> The carrier frequency in the Roma ethnic group was 2.65%. <b><i>Conclusions:</i></b> This is the first report of the frequency of this variant. A high frequency of carriers together with a significant number of patients reported previously proves the p.GLY428Asp variant in the <i>EGFR</i> gene is a major health concern of the Roma populations in Slovakia and neighboring regions.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 11","pages":"357-359"},"PeriodicalIF":1.4,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138451344","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":"Can Precision Pregnancy Save More Mothers?","authors":"Malorye Branca","doi":"10.1089/gtmb.2023.29080.mbr","DOIUrl":"10.1089/gtmb.2023.29080.mbr","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 11","pages":"347-350"},"PeriodicalIF":1.4,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138451342","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":"First Complete Sequence of Human Y Chromosome Assembled.","authors":"","doi":"10.1089/gtmb.2023.29078.eag","DOIUrl":"10.1089/gtmb.2023.29078.eag","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 11","pages":"355-356"},"PeriodicalIF":1.4,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138451343","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":"From Barbershops to Procedure Rooms, Charles R. Rogers Meets Black Men Where They Are.","authors":"Jonathan D Grinstein","doi":"10.1089/gtmb.2023.29079.jgr","DOIUrl":"10.1089/gtmb.2023.29079.jgr","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 11","pages":"351-354"},"PeriodicalIF":1.4,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138451345","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":"F-Box and Leucine-Rich Repeat Protein 7 Is a Prognostic Biomarker and Is Correlated with the Immunosuppressive Microenvironment in Colorectal Cancer.","authors":"Shuai Wang,&nbsp;Xunping Zhao,&nbsp;Shuyuan Zhu,&nbsp;Jiali Xu,&nbsp;Tao Luo","doi":"10.1089/gtmb.2023.0075","DOIUrl":"10.1089/gtmb.2023.0075","url":null,"abstract":"<p><p><b><i>Background:</i></b> Colorectal cancer (CRC) is a common malignancy of the digestive system, but its specific mechanisms of occurrence and development remain incompletely understood. F-Box and leucine-rich repeat protein 7 (FBXL7) is a subunit of the Skp-cullin-F-box ubiquitin ligase, involved in cell cycle regulation, endothelial cell damage, and inflammatory immunological responses. However, the role of FBXL7 in CRC remains unknown. In this study, we investigated the clinical significance and potential mechanism of FBXL7 expression in CRC progression. <b><i>Methods:</i></b> We utilized data from The Cancer Genome Atlas (TCGA) and the University of California Santa Cruz Xena (UCSC Xena) database for bioinformatic analyses. Clinical CRC samples were used to confirm FBXL7 expression. Gene set enrichment analysis (GSEA) and various databases, such as TCGA, UCSC Xena, cBioPortal, University of ALabama at Birmingham CANcer data analysis portal, MethSurv, Tumor Immune Estimation Resource (TIMER), TIMER2.0, Tumor-Immune System Interaction Database, and Tumor Immune Dysfunction and Exclusion Database (TIDB), were used to investigate the role of FBXL7 in CRC. Statistical analysis was performed using R (v.3.6.3) or GraphPad Prism 8.0. <b><i>Results:</i></b> Our findings revealed the predictive significance of FBXL7 in CRC patients. FBXL7 expression was associated with tumor stage, lymph node stage, pathological stage, perineural invasion, and lymphatic invasion. GSEA analysis identified associations between FBXL7 and extracellular matrix organization, as well as immune-related pathways. Immunological analysis revealed a correlation between high FBXL7 expression and the development of an immunosuppressive microenvironment. <b><i>Conclusion:</i></b> Identifying FBXL7 as a novel biomarker for CRC could shed light on the promotion of CRC development by the immune environment.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"325-338"},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49676561","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 Merits and Challenges of Genetic Testing.","authors":"Kaley Katz,&nbsp;Sharon F Terry","doi":"10.1089/gtmb.2023.29077.persp","DOIUrl":"10.1089/gtmb.2023.29077.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"317-318"},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41234311","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":"<i>Correction to:</i> Preanalytic and Analytic Quality System Considerations in Noncoding RNA Biomarker Development for Clinical Diagnostics, by William S. Schleif, et al. <i>Genet Test Mol Biomarkers</i> 2023; (vol. 29, no. 5; 172-182); doi: 10.1089/gtmb.2022.0086.","authors":"","doi":"10.1089/gtmb.2022.0086.correx","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0086.correx","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 10","pages":"345"},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71411737","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":"Investigating the Association of <i>MTHFR C677T</i> Gene Polymorphism with Recurrent Spontaneous Abortion Among Azerbaijani Women from Northwest Iran.","authors":"Amin Moqadami,&nbsp;Abedeh Rezaei,&nbsp;Alireza Ahmadi,&nbsp;Parastoo Badamchizadeh,&nbsp;Zahra Karimi,&nbsp;Faezeh Molaei,&nbsp;Mohammad Khalaj-Kondori","doi":"10.1089/gtmb.2023.0330","DOIUrl":"10.1089/gtmb.2023.0330","url":null,"abstract":"<p><p><b><i>Background:</i></b> Recurrent spontaneous abortion (RSA), defined as two or more succeeding abortions during 20 weeks of gestation, affects 3-5% of pregnancies. Several studies have found that most women with RSA had at least one (and sometimes two copies) of the methylenetetrahydrofolate reductase (<i>MTHFR</i>) C677T variant. <b><i>Materials and Methods:</i></b> The study involved 118 women who had two or more spontaneous abortions (SAs) as the case group and 118 women who had at least one live birth but no SA as the control group. Clinical features such as age, body mass index (BMI), medication received, family history of abortion, and thrombophilia were investigated. Real-time PCR was used for genotyping subjects for <i>MTHFR</i> C677T gene polymorphism. <b><i>Results:</i></b> Significant differences in age, BMI, and medication received characters have been shown between those in the patients' group. For the <i>MTHFR C677T</i> gene, the genotypes for the patients' group were 36%, 60%, and 4%, whereas the genotypes for the control group were 30%, 58%, and 12%. In addition, the C and T allelic frequencies were 59% and 41% in the healthy control group and 67% and 33% in the patients' group, respectively. A significant association was found between the TT genotype and RSA. A 3.84-fold increased risk of RSA was associated with the TT genotype (odds ratio = 3.84, confidence interval: 1.28-10.93, <i>p</i>-value = 0.02). <b><i>Conclusions:</i></b> In this study, homozygosity for the T allele was significantly lower in the RSA-affected than in healthy women, whereas heterozygosity did not vary substantially between the two groups, which was in line with other studies.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"339-344"},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49676562","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":"Prevalence of p.G87V and p.Gln298=Variations in <i>LIPA</i> Gene Within Middle Eastern Population Living Around Los Angeles.","authors":"Jayden Jackson, Justin Farajzadeh, Robert Turner, Kevin Yukutake, Eric Baghdasaryan, Emily St Denis, Tigran Barseghyan, Pamela Herrera, Sajo Begaj, Marvin Pietruszka, Yadira Valles-Ayoub","doi":"10.1089/gtmb.2023.0003","DOIUrl":"10.1089/gtmb.2023.0003","url":null,"abstract":"<p><p><b><i>Background:</i></b> The <i>LIPA</i> gene encodes for lysosomal acid lipase (LAL), which catalyzes the hydrolysis of cholesterol esters and triglycerides. Variations in the <i>LIPA</i> gene impair LAL activity, predisposing patients to a rare metabolic disorder called LAL deficiency (LAL-D). The lack of functioning LAL promotes lipid accumulation and subsequent dyslipidemia, which can increase the likelihood of complications in both infants and adults. Although the worldwide prevalence is 1:500,000 births, the frequency in Mizrahi Jewish populations is projected to be as high as 1 in every 4200 births (Valles-Ayoub et al.) based on the <i>LIPA</i> p.G87V variant frequency among 162 individuals. <b><i>Materials and Methods:</i></b> This study was conducted to validate the previously reported prevalence of LAL-D in the Mizrahi Jewish population based on the pathogenic <i>LIPA</i> missense variants in exon 4 (c.260G>T; p.G87V) and exon 8 (c.894G>A; p.Gln298=) using a larger cohort of those with Middle Eastern ancestry living around Los Angeles. Among the 1184 individual samples sequenced, 660 self-reported as Mizrahi Jewish, while the remaining 524 came from other Middle Eastern groups labeled as \"non-Jewish.\" <b><i>Results:</i></b> Of the 1184 samples, 22 alleles of the exon 4 variant were identified (1.85%), and 2 alleles of the exon 8 variant were identified (0.16%). For the exon 4 variant, 20 of 22 (90.9%) heterozygotes were Mizrahi Jewish, while 2 of 22 (9.09%) heterozygotes were \"non-Jewish.\" For the exon 8 variant, 2 of 2 (100%) heterozygotes were Mizrahi Jewish. This suggests that the prevalence of LAL-D in this population is 1 in 900, which suggests that LAL-D may be 4.6% higher in the Mizrahi Jewish population in previous reports. <b><i>Conclusion:</i></b> These findings show increased prevalence of <i>LIPA</i> gene exon 4 variation p.G87V in the Middle East population when compared to the general population, indicating the need for prenatal screening in those of Mizrahi Jewish ancestry.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 10","pages":"319-324"},"PeriodicalIF":1.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71411738","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}