{"title":"A functional interplay between non-coding RNAs and cancer-associated fibroblasts in breast cancer","authors":"Sara Anajafi , Razie Hadavi , Seyede Maryam Valizadeh-Otaghsara , Maryam Hemmati , Mahmoud Hassani , Samira Mohammadi-Yeganeh , Masoud Soleimani","doi":"10.1016/j.genrep.2024.101990","DOIUrl":"10.1016/j.genrep.2024.101990","url":null,"abstract":"<div><p>Breast cancer is the most common cancer among women worldwide. Early detection and treatment are essential to improve patient outcomes and reduce mortality. Fibroblasts play a significant role in breast cancer development. Fibroblasts can be activated and influenced by cancer cells, leading to their identification as cancerassociated fibroblasts (CAFs), which are essential for tumor progression. In breast cancer, CAFs, as the main population of the tumor microenvironment, play a vital role and control several biological processes through non-coding RNAs(ncRNA) and signaling pathways. NcRNAs, such as long non-coding RNAs (lncRNAs) and microRNAs (miRNAs), function as epigenetic regulators to control gene expression. Several studies have suggested that ncRNAs interfere in regulating tumor initiation and progression and can be used as biomarkers and therapeutic targets in different cancer types. Exosomes are extracellular vesicles that interact between fibroblasts and cancer cells. Exosomes derived from CAFs can influence breast cancer cells. Cancer cellderived exosomes may promote CAF phenotype, and CAF-derived exosomes transport miRNAs, lncRNAs, and several other substances, promoting breast cancer cell proliferation, migration, invasion, and angiogenesis, making them a potential therapeutic target. Despite little knowledge of the underlying functions of lncRNAs and miRNAs in CAFs, this review investigates how these ncRNAs cross-talk between tumor cells and CAFs.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141853058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-21DOI: 10.1016/j.genrep.2024.101989
Emily T. Camilleri , Bipin Gaihre , Maryam Tilton , Catherine E. Gray , Lindsey A. Kirkeby , Zachary T. Resch , Lichun Lu
{"title":"Transcriptional profiling of fracture-associated cytokines and growth factors identifies transcriptional regulation of osteogenic genes by recombinant-human IL1β","authors":"Emily T. Camilleri , Bipin Gaihre , Maryam Tilton , Catherine E. Gray , Lindsey A. Kirkeby , Zachary T. Resch , Lichun Lu","doi":"10.1016/j.genrep.2024.101989","DOIUrl":"10.1016/j.genrep.2024.101989","url":null,"abstract":"<div><p>Signaling molecules secreted during bone fracture healing stimulate molecular and cellular changes to promote healing and tissue regeneration. Molecular characterization of cytokines and growth factors can provide insight into their function and potential application as biologics or drug targets for bone tissue regeneration. Previous studies have identified the expression of <em>IL1B</em>, <em>IL6</em>, <em>IL34</em>, <em>IGF1</em>, <em>ANGPT1</em>, and <em>TGFB3</em> during osteogenic differentiation and facture healing. In this study, we evaluated the transcriptome of adipose-derived mesenchymal stromal cells (AMSCs) following stimulation with these biological factors and examined their role in osteogenic differentiation. Stimulation of AMSCs with recombinant human (rh)-IL1B led to the largest gene expression changes compared to the other signaling factors including 1411 induced and 541 repressed genes (>2-fold). Rh-IL1B regulated genes included inflammatory (<em>IL1B</em>, <em>IL6</em>, <em>CCL2</em>) and osteogenic (<em>BMP2</em>, <em>RUNX2</em>, <em>TWIST2</em>) genes. Rh-IL1B also induced the expression of <em>BMP2</em> in bone marrow-derived mesenchymal stromal cells (BMSCs) and bone digest cells. Although no changes in osteogenic differentiation of AMSCs was observed, low concentrations of rh-IL1B (0.1 ng/mL) promoted alkaline phosphatase activity of differentiated bone digest cells. Further, rh-IL1B significantly induced the secretion of BMP2 from these cells. Together this data provides insight into the molecular function of fracture-associated biological factors.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141853482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-18DOI: 10.1016/j.genrep.2024.101984
Rahul Dey, Amitava Das
{"title":"An integrated bioinformatics approach for unravelling the molecular insights into psoriasis pathology and therapeutics","authors":"Rahul Dey, Amitava Das","doi":"10.1016/j.genrep.2024.101984","DOIUrl":"10.1016/j.genrep.2024.101984","url":null,"abstract":"<div><p>Psoriasis is a chronic relapsing inflammatory disease of the skin that affects almost 2–3 % population worldwide. The current treatment strategies include palliative therapeutics targeting the inflammatory pathways that do not completely cure the lesioned skin. The molecular cues in the hyper-proliferative and aberrantly differentiated keratinocytes of the psoriatic lesioned skin remain unknown. Through an integrative in-silico approach, we have analyzed human psoriatic skin samples from 3 RNA-Seq and 3 microarray datasets to identify 340 differentially expressed genes (DEGs). Further, these DEGs were analyzed using gene ontology enrichment, KEGG pathways, and protein-protein interaction networks for their role in disease pathology and the identification of hub genes. The expression of the hub genes was validated in a preclinical murine model of psoriasiform dermatitis. Finally, the ten hub genes were assessed for their drugability, which revealed 74 drugs targeting 7 hub genes (CCNA2, TOP2A, BIRC5, RRM2, CDK1, AURKA, and CCNB1) that can be repurposed for psoriasis treatment. This study provides an understanding of psoriasis pathophysiology and suggests key molecular biomarkers as therapeutic targets for effective mitigation of the disease.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141732066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-18DOI: 10.1016/j.genrep.2024.101987
Zimam Mahmud , Syeda Antara Shabnam , Israt Dilruba Mishu , Abdus Sadique , Laila N. Islam , Munirul Alam
{"title":"Unveiling the spectrum of antibiotic resistance and virulence genes in Escherichia coli: A comparative study of clinical and environmental isolates","authors":"Zimam Mahmud , Syeda Antara Shabnam , Israt Dilruba Mishu , Abdus Sadique , Laila N. Islam , Munirul Alam","doi":"10.1016/j.genrep.2024.101987","DOIUrl":"10.1016/j.genrep.2024.101987","url":null,"abstract":"<div><p>Multidrug resistant (MDR) <em>Escherichia coli</em> causing diarrhea and the spread of antibiotic resistance genes as well as virulence genes through aquatic MDR strains represent a major clinical concern worldwide. In this study, we examined the virulence gene contents and prevalence of multidrug resistance among <em>Escherichia coli</em> strains isolated from diarrheal patients and aquatic environment of Bangladesh. Clinical isolates from Mathbaria and environmental isolates from Dhaka (freshwater and wastewater) and Chittagong (marine-water) in Bangladesh were included. Herein, antibiotic resistance was examined using the disc diffusion method, while the screening of virulence genes was conducted through PCR assay. The results showed a high prevalence of multidrug resistance (MDR) among clinical isolates, with 90.91 % exhibiting MDR. Erythromycin resistance was observed in all clinical isolates, while mecillinam showed 100 % sensitivity. Significant resistance was also seen for ampicillin, azithromycin, and sulfamethoxazole-trimethoprim (>70 %) in clinical isolates. Among environmental isolates, 87.64 % were identified as MDR, with high resistance rates for erythromycin, ampicillin, and azithromycin. Geographic variations in resistance patterns were observed between Dhaka and Chittagong, with higher resistance in Dhaka for certain antibiotics such as Gentamycin (CN), Tetracycline (TE), Ciprofloxacin (CIP), Ampicillin (AMP), Cefixime (CFM), Mecillinam (MEL). Virulence gene prevalence differed between clinical and environmental isolates, with entero-toxigenic <em>E. coli</em> (ETEC) being dominant in clinical samples and Entero-invasive <em>E. coli</em> (EIEC) in environmental samples. Younger patients had significantly higher occurrence of virulence genes than older ones. No significant gender biasness was observed for the prevalence of antibiotic resistance and virulence. Comparative analysis showed Rampura isolates had the highest resistance and Mirpur isolates had the highest virulence gene prevalence. Results from sewerage samples showed significantly higher antibiotic resistance compared to river water isolates. In Chittagong, significant difference in resistance was noticed for the samples from Chatkhil and Patenga 1 zones, while virulence gene prevalence did not vary significantly. Overall, this study highlights the preponderance of MDR in clinical <em>E. coli</em> isolates and substantial antibiotic resistance and virulence genes in environmental isolates, particularly in non-coastal water sources. Therefore, effective antibiotic stewardship programs are crucial to combat resistance in clinical and environmental settings in Bangladesh.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141843338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-18DOI: 10.1016/j.genrep.2024.101983
Katrina R. Hamilton , Lakeya S. McGill , Claudia M. Campbell , Sophie M. Lanzkron , C. Patrick Carroll , Alban Latremoliere , Jennifer A. Haythornthwaite , Olga A. Korczeniewska
{"title":"Genetic contributions to pain modulation in sickle cell: A focus on single nucleotide polymorphisms","authors":"Katrina R. Hamilton , Lakeya S. McGill , Claudia M. Campbell , Sophie M. Lanzkron , C. Patrick Carroll , Alban Latremoliere , Jennifer A. Haythornthwaite , Olga A. Korczeniewska","doi":"10.1016/j.genrep.2024.101983","DOIUrl":"10.1016/j.genrep.2024.101983","url":null,"abstract":"<div><h3>Background</h3><p>Despite recent advances in our knowledge of genetic contributions to the highly variable sickle cell disease (SCD) phenotype, our understanding of genetic factors associated with pain sensitivity in SCD remains limited. Previous studies investigated specific variants in single candidate genes and their association with SCD pain variability. The primary aim of the current study was to expand the genes and polymorphisms tested to discover new risk genes (polymorphisms) associated with central sensitization for individuals with SCD.</p></div><div><h3>Methods</h3><p>Adults with sickle cell disease (<em>n</em> = 59, Mage = 36.8 ± 11.5, 65.8 % female) underwent quantitative sensory testing to examine central sensitization and general pain sensitivity. Participants reported average crisis and non-crisis pain intensities weekly using a 0–100 scale, and provided salivary samples for genotyping. The Hardy-Weinberg equilibrium was verified for controls, and allele distributions were tested with chi-square and odds ratio tests. The Benjamini-Hochberg procedure was used to control for false discovery rate. Regression analyses and Wilcoxon tests were used to test associations for normally distributed and skewed data, respectively.</p></div><div><h3>Results</h3><p>Central sensitization and general pain sensitivity were not associated with hemoglobin genotype (Ps > 0.05). Of 4145 SNPs tested, following false discovery rate adjustments, 11 SNPs (rs11575839, rs12185625, rs12289836, rs1493383, rs2233976, rs3131787, rs3739693, rs4292454, rs4364, rs4678, rs6773307) were significantly associated with central sensitization, and one SNP (rs7778077) was significantly associated with average weekly non-crisis pain. No SNPs were associated with general pain sensitivity.</p></div><div><h3>Conclusions</h3><p>These findings provide insights into genetic variants association with average non-crisis pain and central sensitization for individuals with SCD, and may provide support for genetic predictors of heightened pain experience within SCD.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2452014424001067/pdfft?md5=d0ce5a99748c8e96dd1bc6e7d74d7d48&pid=1-s2.0-S2452014424001067-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141732068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-17DOI: 10.1016/j.genrep.2024.101985
Qurratu'Aini Syasya Shamsuri , Abdul Hafiz Ab Majid
{"title":"16S rRNA metabarcoding of gut microbiota between untreated and Chitin Synthesis Inhibitors bait treated in three subterranean termite species","authors":"Qurratu'Aini Syasya Shamsuri , Abdul Hafiz Ab Majid","doi":"10.1016/j.genrep.2024.101985","DOIUrl":"10.1016/j.genrep.2024.101985","url":null,"abstract":"<div><p>Termites heavily depend on the gut microbiota to process a broad spectrum of biological reactions; therefore, influencing the gut microbiota is a crucial strategy for managing their infestation. Prior research has focused on the effects of entomopathogenic agents and antibiotics. However, there is a dearth of studies examining the impact of Chitin Synthesis Inhibitors (CSIs) on the gut microbiome. Therefore, this study aimed to characterize the gut microbiota in both untreated control and CSIs bait treated of <em>Coptotermes gestroi</em> (lower termite), <em>Globitermes sulphureus</em> and <em>Macrotermes gilvus</em> (higher termites) by amplifying V3 to V4 hypervariable region using 16S rRNA metagenomic in Illumina Miseq platform. Among all samples, the abundance of bacteria in higher termites was observed to be greater than in lower termite, and the abundance of bacteria in CSIs bait-treated samples is higher than in untreated control samples. This presumably due to established symbiont relationship with the pre-existing bacteria and archaea and divergence of dietary pattern. On the other hand, the gut microbiome also proved to highly susceptible to CSIs bait treatment hence, the upregulated after the bait treatment.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141638099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-16DOI: 10.1016/j.genrep.2024.101975
Ali Asghari , Mohammad Mohammadi , Mohammad Hossein Motazedian , Qasem Asgari
{"title":"Livestock as proper reservoirs for zoonotic Blastocystis subtypes in southwestern Iran: A potential threat to public health","authors":"Ali Asghari , Mohammad Mohammadi , Mohammad Hossein Motazedian , Qasem Asgari","doi":"10.1016/j.genrep.2024.101975","DOIUrl":"10.1016/j.genrep.2024.101975","url":null,"abstract":"<div><p><em>Blastocystis</em> sp. is a protozoan parasite commonly found in the gastrointestinal tract of humans and various animals, including livestock. This study aimed to assess the prevalence, subtypes (STs) distribution, and zoonotic transmission potential of <em>Blastocystis</em> sp. in livestock in southwestern Iran. A cross-sectional study was conducted, and fecal samples were collected from cattle and sheep in Shiraz, the capital city of Fars province. Molecular analysis was conducted to amplify a specific fragment from the SSU rRNA gene through PCR and sequencing to detect <em>Blastocystis</em>.sp. and identify the related STs in the livestock population. This study identified a relatively low occurrence of <em>Blastocystis</em> sp. in cattle (8 %; 4/50) and sheep (6 %; 3/50). Nonetheless, different zoonotic STs were found in these animals. In cattle, ST10 accounted for 50 % (2/4), ST1 for 25 % (1/4), and ST3 for 25 % (1/4) of the cases. In sheep, 66.7 % (2/3) and 33.3 % (1/3) of the positive isolates were classified as ST10 and ST3, respectively. <em>Blastocystis</em> sp. was more common in young animals and females, as well as in diarrheal samples (P > 0.05). The findings suggest a significant risk of zoonotic transmission of <em>Blastocystis</em> sp. from livestock to humans in the region. Although this small-scale research was not suitable for firm epidemiological conclusions, it underscores the importance of monitoring and implementing control measures to prevent zoonotic transmission of <em>Blastocystis</em> sp. from livestock to humans in southwestern Iran, highlighting the need for further research to better understand the epidemiology and public health implications of this parasite.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141638098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-14DOI: 10.1016/j.genrep.2024.101973
Kamal Mohammadian , Arash Moradi , Mansoureh Shabani , Somayeh Kazemi , Shahla Mohammad Ganji
{"title":"Deciphering the role of non-coding RNAs SNHG18, HOXA11-AS, MEG3, and MDC1-AS1 in glioma patients: A combined experimental and computational study","authors":"Kamal Mohammadian , Arash Moradi , Mansoureh Shabani , Somayeh Kazemi , Shahla Mohammad Ganji","doi":"10.1016/j.genrep.2024.101973","DOIUrl":"10.1016/j.genrep.2024.101973","url":null,"abstract":"<div><h3>Background</h3><p>Gliomas are brain tumours categorised into low-grade (I and II) and high-grade (III and IV). Unfortunately, patients with high-grade gliomas have a poor prognosis, which is why researchers are working to improve their management. One crucial area of study is the understanding of glioma tumorigenesis and progression. Recent research has shown that long non-coding RNAs (lncRNAs) play a potential role in this process.</p></div><div><h3>Material and methods</h3><p>We evaluated the expression of SNHG18, HOXA11-AS, MEG3, and MDC1-AS1 in 150 paraffin tissue block samples, including 37 low-grade gliomas, 58 high-grade gliomas, and 55 non-tumoural tissues. After RNA extraction and complementary DNA synthesis (cDNA), we used probe-based qPCR to evaluate the lncRNA expression level, followed by statistical analyses.</p></div><div><h3>Results</h3><p>The qRT-PCR analysis revealed differential expression patterns of lncRNAs in tumour tissues compared to controls. In low-grade tumours, SNHG18 and HOXA11-AS were upregulated (SNHG18: 1.78 ± 0.21, <em>p</em> < 0.001; HOXA11-AS: 1.24 ± 0.60, <em>p</em> < 0.001), while MEG3 and MDC1-AS1 were downregulated (MEG3: 0.72 ± 0.17, <em>p</em> < 0.001; MDC1-AS1: 0.24 ± 0.18, <em>p</em> < 0.001). In high-grade tumours, SNHG18 and HOXA11-AS were further upregulated (SNHG18: 3.16 ± 0.88, <em>p</em> < 0.001; HOXA11-AS: 3.83 ± 0.82, p < 0.001), and MEG3 and MDC1-AS1 remained downregulated (MEG3: 0.49 ± 0.29, p < 0.001; MDC1-AS1: 0.15 ± 0.09, p < 0.001). The bioinformatic-based study conveyed that the alteration in lncRNAs expression leads to dysregulation of RNA Polymerase II, which is observed in glioblastoma.</p></div><div><h3>Conclusion</h3><p>Our results suggest that SNHG18 and HOXA11-AS (up-regulated) may act as oncogenes in high-grade gliomas. In contrast, the downregulation of MEG3 and MDC1-AS1 in high-grade gliomas could be related to tumour suppressor properties. Therefore, it could be assumed that the expression levels of these lncRNAs may serve as potential biomarkers for diagnostic and therapeutic purposes.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141622426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-14DOI: 10.1016/j.genrep.2024.101981
Abdullah Al Saba , Zimam Mahmud , Farzana Ansari , Rubaiat Ahmed , Jasmin Nur , Md Sohrab Alam , Sajib Chakraborty , A.H.M. Nurun Nabi , Laila Noor Islam , Md. Zakir Hossain Howlader
{"title":"Single nucleotide variants rs7975232 and rs2228570 within vitamin D receptor gene confers protection against severity of COVID-19 infection in Bangladeshi population","authors":"Abdullah Al Saba , Zimam Mahmud , Farzana Ansari , Rubaiat Ahmed , Jasmin Nur , Md Sohrab Alam , Sajib Chakraborty , A.H.M. Nurun Nabi , Laila Noor Islam , Md. Zakir Hossain Howlader","doi":"10.1016/j.genrep.2024.101981","DOIUrl":"10.1016/j.genrep.2024.101981","url":null,"abstract":"<div><p>Vitamin D insufficiency has been linked to an elevated susceptibility to SARS CoV-2 infection in several studies owing to its immunomodulatory properties. This study aimed to examine the association between vitamin D levels and the genetic variations in the vitamin D receptor (VDR) gene with the severity of COVID-19. A total of 71 COVID-19 patients (Mild = 27, Moderate = 20, Severe = 24) and healthy individuals (<em>n</em> = 22) were recruited in this study. The 25 (OH) vitamin D level was found to be lowest in the severe COVID-19 patients (18.2 ng/mL) compared to other study participants. Initially, Whole Exome Sequencing (WES) of 29 individuals was conducted (patients, <em>n</em> = 22 and controls, <em>n</em> = 7) to identify potential mutational hotspots within the VDR gene. The WES data revealed 2 exonic and 10 intronic variants in the VDR region of the study participants. Further analysis included large number of samples comprising 64 individuals to evaluate the association of 3 SNPs, rs11168266, rs7975232, and rs2228570, with the disease severity employing Sanger sequencing or PCR-RFLP. The genotype T/T [OR (95%CI): 0.32 (0.13–0.79), <em>p</em> = 0.013] and genotype C/C [OR (95%CI): 0.36 (0.15–0.89), <em>p</em> = 0.02] of rs7975232 and rs2228570, respectively were found to be significantly associated with lower risk of COVID-19 severity under recessive model. In conclusion, the genotypes T/T and C/C of <em>Apa</em>I and <em>Fok</em>I confer protection against severe COVID-19 in Bangladeshi population, which warrants further validation in a larger sample size.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141638085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2024-07-14DOI: 10.1016/j.genrep.2024.101980
Farzaneh Motamedi , Mehri Khatami , Mohammad Mehdi Heidari , Mansoureh Azadeh , Negar Karami
{"title":"Evaluation of the expression of LINCOO475 and FOXO1 genes as tumor suppressor genes in breast cancer: Correlation of bioinformatics tools and experimental approaches","authors":"Farzaneh Motamedi , Mehri Khatami , Mohammad Mehdi Heidari , Mansoureh Azadeh , Negar Karami","doi":"10.1016/j.genrep.2024.101980","DOIUrl":"10.1016/j.genrep.2024.101980","url":null,"abstract":"<div><p>Breast cancer is one of the most prevalent forms of malignancy in humans and is considered the most important life-threatening factor among women worldwide. Long non-coding RNAs (LncRNAs) are thought to be potential transcripts that regulate the expression of important genes in vital processes such as cell proliferation, apoptosis, survival, and oxidative stress. <em>LINC00475</em> is an important lncRNA and is located on 9q22.31 and its expression is regulated by p53. <em>FOXO1</em> gene is an important regulator in physiological processes such as cell maintenance and differentiation, stimulation of cell cycle arrest, and apoptosis. In this study, we focused on identifying a possible association between <em>FOXO1</em> and <em>LINC00475</em> expression levels in breast cancer. Bioinformatics expression and Microarray data analysis were utilized to find their potential role as novel biomarkers in breast cancer. The correlation of gene expression levels with the survival rate of patients was determined using GEPIA. <em>LINC00475</em> and <em>FOXO1</em> expression levels were validated using quantitative reverse transcription PCR (qRT-PCR) in 55 tumors and 40 normal tissues. Our experiments indicated a significant decrease in the expression level of <em>LINC00475</em> and <em>FOXO1</em> genes in tumor tissues compared to normal samples. Moreover, the specificity and sensitivity of all statistical criteria were significant between the two groups. Also, we revealed a positive relationship between <em>LINC00475</em> and <em>FOXO1</em> expression in tumor samples. Based on gene expression analysis and lncRNA data, it was shown that <em>LINC00475</em> and <em>FOXO1</em> could represent as potential diagnostic biomarkers for early diagnosis of breast cancer.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141622428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}