Human Gene最新文献

{"title":"An investigation on genetic mutations affecting embryo, oocyte, and sperm quality: An IVF failure perspective","authors":"Tahereh Barati ,&nbsp;Zohreh Mirzaei ,&nbsp;Amir Ebrahimi ,&nbsp;Davood Ghavi ,&nbsp;Mahmoud Shekari Khaniani ,&nbsp;Sima Mansoori Derakhshan","doi":"10.1016/j.humgen.2025.201384","DOIUrl":"10.1016/j.humgen.2025.201384","url":null,"abstract":"<div><div>Successful reproduction in humans requires high-quality gametes and successful fertilization. Disruptions in oocyte and sperm maturation can cause infertility and IVF/ICSI procedure failure. Identifying valuable molecular markers is critical for understanding the genetic basis of these failures and assessing gamete quality. In this review, we have described the mutations that affect oocyte, embryo, and sperm quality at each stage of maturation. Genes such as TUBB8, BTG4, PADI6, MEI1, REC114, TLE6, KHDC3L, WEE2, PATL2, NLRP5, CHK1, ZP1, ZP2, and ZP3 are discussed for their roles in oocyte maturation, fertilization, zygote cleavage, and early embryonic development. As well as genes like KCNU1, DNAH6, HAUS7, PLCζ, ZDHHC19, CFTR, DAZ, CATSPER2, 3, and DNAH2 are explored for their influence on sperm morphology, motility, and count. These genetic markers and variants will serve as the basis for personalized genetic counseling and possible patient therapies.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201384"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144016","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}

{"title":"Exploring shared genetic factors and prognostic biomarkers in pancreatic cancer and non-alcoholic fatty liver disease: Focus on hsa-miR-29c-3p and COL11A1 axis","authors":"Ayan Saha ,&nbsp;Inan Rahman ,&nbsp;Ayan Roy ,&nbsp;Nusrat Azad ,&nbsp;Paromita Biswas ,&nbsp;Ayesha Tasnim Usha ,&nbsp;Abul Faisal M.D. Nuruddin Chowdhury ,&nbsp;Jannatul Ferdoush","doi":"10.1016/j.humgen.2024.201371","DOIUrl":"10.1016/j.humgen.2024.201371","url":null,"abstract":"<div><h3>Background</h3><div>Pancreatic cancer (PC) has a high fatality rate and is often diagnosed late. Obesity is a significant risk factor for PC, leading to inflammation and altered gut microbiota that may contribute to its development. Non-alcoholic fatty liver disease (NAFLD) is linked to obesity but its association with PC risk remains unclear. Both PC and NAFLD may share genetic factors, and research is ongoing to understand their underlying mechanisms through comprehensive sequencing data analysis.</div></div><div><h3>Method</h3><div>The study utilized bioinformatics tools and databases to analyze gene expression data from PC and obese NAFLD. Differential gene expression, enrichment analysis, and protein-protein interaction analysis identified potential biomarkers and therapeutic targets. Survival analysis validated hub genes, and correlation analysis was used to evaluate the relationships between immune cells and PC. Prognostic miRNA analysis and drug sensitivity assessment revealed predictive biomarkers for drug efficacy. Statistical methods were applied to evaluate significance.</div></div><div><h3>Results</h3><div>The study compared gene expression profiles between PC and NAFLD, revealing 58 common genes. Important pathways such as tyrosine metabolism, fatty acid degradation, and glycolysis/gluconeogenesis were revealed by enrichment analysis to be connected to the common genes in both diseases. Notably, five hub genes (MARCO, COL11A1, CDCP1, CLEC5A, COL6A6) emerged as potential players in PC and NAFLD. Survival analysis confirmed their significance in PC prognosis. The study also identified hsa-miR-29c-3p as a promising prognostic biomarker targeting COL11A1 in PC, along with the long non-coding RNA (IncRNA) taurine-upregulated gene 1 (TUG1) axis, which was associated with poor survival of PC patients. The clinical significance of hsa-miR-29c-3p was highlighted by Receiver Operating Characteristic (ROC) curve analysis, which also provided insight into the relationships between chemo-resistance, particularly with regard to Capecitabine.</div></div><div><h3>Conclusion</h3><div>The study identified the shared genetic factor COL11A1 as a possible biomarker in PC and NAFLD. Notably, hsa-miR-29c-3p emerged as a promising prognostic biomarker targeting COL11A1 in PC, with implications for patient survival. These findings contribute to our understanding of the underlying mechanisms and may offer clinical significance in predicting outcomes and guiding therapeutic approaches for these challenging diseases.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201371"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143807","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}

{"title":"Unravelling genetic commonalities between idiopathic pulmonary fibrosis and gastroesophageal reflux disease: A bioinformatics exploration","authors":"Sanjukta Dasgupta","doi":"10.1016/j.humgen.2025.201375","DOIUrl":"10.1016/j.humgen.2025.201375","url":null,"abstract":"<div><h3>Background</h3><div>Idiopathic pulmonary fibrosis (IPF) and gastroesophageal reflux disease (GERD) are chronic conditions that frequently co-occur, yet their genetic correlation remains underexplored.</div></div><div><h3>Methods</h3><div>This study utilized publicly available datasets (GSE150910 and GSE226303) from the NCBI-GEO database to identify common differentially expressed genes (DEGs) between IPF and GERD. DEGs were analyzed using DESeq2 and GEO2R, with hub genes identified via cytoHubba algorithms (MCC, MNC, DMNC). Subsequently, network interactions were analyzed with GeneMania, while pathway interactions were explored using the Enrichr tool. Potential drug targets were identified using DGIdb, with ADMET properties evaluated using SWISSADME and toxicity assessed via Protox-II. Molecular docking of the drug to target protein was performed using AutoDock Vina to predict the binding affinities.</div></div><div><h3>Results</h3><div>A total of 52 overlapping DEGs (51 up-regulated, 1 down-regulated) were identified between IPF and GERD, with nine hub genes (<em>MUC5AC</em>, <em>RGS2</em>, <em>AGR2</em>, <em>LIF</em>, <em>CXCL6</em>, <em>CXCL8</em>, <em>SULT1E1</em>, <em>RGS1</em>, and <em>IL1B</em>) selected through topological analysis. <em>RGS1</em> and <em>LIF</em> showed the highest diagnostic potential, supported by distinct correlation patterns in gene expression. Haloperidol, identified via DGIdb, interacts strongly with RGS2, confirmed by docking analysis (−7.5 kcal/mol). ADMET analysis demonstrated haloperidol's oral bioavailability and adherence to Lipinski's rules, while Protox-II classified it as toxicity class-3.</div></div><div><h3>Conclusions</h3><div>This study identifies nine common hub genes and highlights the association of the IL-10 signaling pathway in both IPF and GERD. Haloperidol emerged as a potential therapeutic drug for IPF patients with GERD, showing significant interaction with <em>RGS2</em>.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201375"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143811","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}

{"title":"Impact of unique host genetic variants in the HIV life cycle, differentiates the long-term non-progressors and rapid progressors in South Indian females","authors":"Muthukannan Aishwaryalakshmi ,&nbsp;Maruthamuthu Stalinraja ,&nbsp;Kalaimani Pandian ,&nbsp;Manoharan Mythreyee ,&nbsp;Madasamy Suresh ,&nbsp;Mariakuttikan Jayalakshmi","doi":"10.1016/j.humgen.2025.201382","DOIUrl":"10.1016/j.humgen.2025.201382","url":null,"abstract":"<div><div>Human immunodeficiency virus infected individuals manifest variability to resistance and susceptibility towards the progression of acquired immunodeficiency syndrome. This contrariety challenges the understanding of host genome for the disease progression and resistance. In this study, the reasons for the differential disease progression based on the immunogenetics of the individuals are explored through whole exome sequencing. A retrospective study of 19 HIV patients, clinically classified as Long-Term Non-Progressors (LTNPs = 9) and Rapid Progressors (RPs = 10), were sequenced for their coding regions using Illumina platform. The raw data of these 19 samples were analyzed for calling single nucleotide polymorphism using various bioinformatics tools like Alignment, GATK, and SnpEff. The variations in the exome were filtered based on missense pathogenicity and combined annotation dependent depletion score. The present study identified the variations in 35 host genes involved in HIV viral life cycle that differentiate the progression of AIDS in the infected individuals. Among these host genetic variants, the variations in the genes SERINC2, NUP153, PSIP1, SUPT4H1 and EP300 were found only in the LTNPs but not in RPs. Similarly the variations in the genes TRIM54, KAT2B, BICD2, FEZ, and MAP1LC3B were found only in the RPs. The variations in the genes PDCD6IP &amp; MAP1A were observed both in LTNPs &amp; RPs. Hence, the 5 genetic variants specifically found in the LNTPs might have a key role in the delayed progression of AIDS.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201382"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144018","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}

{"title":"Emerging role of hsa_circ_0000652, hsa-miR-21, SMAD2, and Foxo1 in type 2 diabetes mellitus pathogenesis","authors":"Abeer Mostafa ,&nbsp;Azza Abusree Ahmed ,&nbsp;Radwa T.M. Hassanien ,&nbsp;Hala Mahfouz ,&nbsp;Marwa Salah ,&nbsp;Heba M. Amr ,&nbsp;Sally A. Fahim","doi":"10.1016/j.humgen.2025.201386","DOIUrl":"10.1016/j.humgen.2025.201386","url":null,"abstract":"<div><h3>Background</h3><div>Diabetes mellitus (DM) is considered a metabolic disorder widely distributed worldwide. Optimal options of treatment and their related mechanisms are still unclear despite intense investigations. MicroRNAs (miRNAs) are small noncoding that control molecular signaling pathways in various diseases including DM. <em>miR-21</em> has a role in multiple biological processes as apoptosis, and proliferation of the cell. The aim of the present work is to investigate the epigenetic control of DM pathogenesis.</div></div><div><h3>Methods</h3><div>The current study enrolled 30 healthy controls and 30 patients diagnosed with type II diabetes (T2DM). <em>miR-21, hsa_circ_0000652, Foxo</em><em>1</em><em>, and SMAD2</em> expressions were evaluated by qRT-PCR. Moreover, Bioinformatics analysis of <em>hsa_circ_0000652</em> and its targeted pathways was investigated.</div></div><div><h3>Results</h3><div><em>hsa_circ_0000652 and miR-21</em> were up-regulated in T2DM. <em>hsa_circ_0000652</em> restricts the inhibitory effect of <em>miR-21</em> of its targeted genes (<em>SMAD2</em>, <em>Foxo1</em>) that were up regulated in diabetic patients (<em>P</em> value &lt;0.001), <em>miR-21</em> was significantly correlated with <em>hsa_circ_0000652, SMAD2, and Foxo1</em> (<em>p</em>-values = 0.022, 0.003, and &lt; 0.001, respectively). ROC analysis of <em>hsa-miR-21</em> and <em>hsa_circ_0000652</em> revealed that they are significant diagnostic factors for T2DM (P value &lt;0.001, AUC =0.98, 0.927), they also represent a significant risk factor for occurrence of T2DM.</div></div><div><h3>Conclusion</h3><div><em>hsa-miR-21</em> and <em>hsa_circ_0000652</em> are potent regulators in DM pathogenesis and could be novel therapeutic targets for treatment and prevention of DM.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201386"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143264574","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}

{"title":"Exploring the relationship between ERCC1 polymorphisms and colorectal cancer risk: Insights from an in-depth meta-analysis","authors":"Praveen Kumar Kampalli ,&nbsp;Mohan Krishna Ghanta ,&nbsp;Henu Kumar Verma ,&nbsp;Afroz Alam ,&nbsp;Sujatha Peela ,&nbsp;LVKS Bhaskar","doi":"10.1016/j.humgen.2024.201361","DOIUrl":"10.1016/j.humgen.2024.201361","url":null,"abstract":"<div><h3>Introduction</h3><div>In recent decades, there has been mounting evidence linking Excision repair cross-complementing gene (ERCC1) polymorphisms to colorectal cancer (CRC). According to recent epidemiological research, the ERCC1 polymorphism may have an impact on the incidence of colorectal cancer (CRC). However, there is controversy on ERCC1 genetic variants affecting CRC in these studies. Hence, this meta-analysis study aimed to analyze the link between CRC and ERCC1 gene polymorphism.</div></div><div><h3>Methodology</h3><div>We looked up information on the impact of ERCC1 genetic variations on CRC development in the Web of Science, PubMed, and Embase. Addressing the risk of colorectal cancer associated with mutations in the ERCC1 gene, no meta-analysis was conducted. Using Stata (version 12.0) applications, we effectively conducted a meta-analysis of thirteen case-control investigations and integrated the pooled odds ratios (ORs) according to a 95 % confidence interval (CI) of the overall and subgroup analysis.</div></div><div><h3>Results</h3><div>According to our findings, there appears to have been a noteworthy association found between rs3212986 and the risk of CRC in both the allele genetic model (OR 95 % CI = 1:44 (1.21–1.71) and the dominant genetic model (OR 95 % CI = 1:04 (0.93–1.15) for overall CRC.</div></div><div><h3>Conclusion</h3><div>In conclusion, the results of this meta-analysis showed that rs3212986 polymorphism was significantly associated with colorectal cancer risk, whereas rs11615 polymorphism was not significantly associated with colorectal cancer risk.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201361"},"PeriodicalIF":0.5,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142746427","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}

{"title":"Solute carrier family 2 members (SLC2A) as potential targets for the treatment of head and neck squamous cell carcinoma patients","authors":"Anoop Kumar Tiwari ,&nbsp;Devansh Jain ,&nbsp;Sheikh Nizamuddin ,&nbsp;Ravi Shanker Srivastava ,&nbsp;Sanjay Singh ,&nbsp;Sushant Kumar Shrivastava ,&nbsp;Arun Khattri","doi":"10.1016/j.humgen.2024.201365","DOIUrl":"10.1016/j.humgen.2024.201365","url":null,"abstract":"<div><h3>Objective</h3><div>Solute carrier family 2 (SLC2A) members have drawn interest in cancer research due to their crucial function in glucose metabolism. To understand their role in Head and Neck Squamous Cell Carcinoma (HNSCC), we have comprehensively analyzed the gene expression of SLC2A family members in HNSCC patients.</div></div><div><h3>Method</h3><div>RNAseq data of 520 HNSCC patients and 46 normals was downloaded from The Cancer Genome Atlas (TCGA) and analyzed using various statistical methods in R.</div></div><div><h3>Result</h3><div>Comparison of gene expression between normal and tumor samples showed significantly higher expression of <em>SLC2A1</em>, <em>4, 6,</em> and <em>9</em> in tumor samples compared to normal. Further analysis revealed that both HPV(−)ve and HPV(+)ve samples showed significantly higher expression of <em>SLC2A1</em> as compared to normal, though the difference was more pronounced in the case of HPV(−)ve. In contrast, <em>SLC2A9</em> showed a highly significant difference between HPV(−)ve and normal but not between HPV(+)ve and normal. Furthermore, <em>SLC2A</em> genes showed significant variation among the basal (BA), classical (CL), and mesenchymal (MS) expression groups of HNSCC patients. <em>SLC2A1</em> and <em>9</em> were significantly overexpressed in the BA group as compared to the other two groups, suggesting that these two genes can be utilized for the targeted therapy of HPV(−)ve HNSCC patients of the BA group.</div></div><div><h3>Conclusion</h3><div>Our results suggest that the biology of SLC2A family members is complex and, they may be playing different roles in different genomic backgrounds. More studies on SLC2A family members are needed to utilize them for targeted therapy or as diagnostic biomarkers.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201365"},"PeriodicalIF":0.5,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142746378","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}

{"title":"Meta-analysis of genes and genetic variants implicated in Type II diabetes mellitus, diabetic retinopathy, and diabetic nephropathy","authors":"A.N. Rizza ,&nbsp;Nethra Lenin ,&nbsp;Yazhini Ramaswamy ,&nbsp;Deepak Kumar Sundaramoorthy ,&nbsp;Rajiv Raman ,&nbsp;Sinnakaruppan Mathavan","doi":"10.1016/j.humgen.2024.201362","DOIUrl":"10.1016/j.humgen.2024.201362","url":null,"abstract":"<div><div>Meta-analysis is a popular technique for aggregating evidence from a variety of similar studies for collective comparison. This paper presents data on genes and genetic variants (SNPs) associated with Type 2 Diabetes Mellitus, Diabetic Retinopathy, and Diabetic Nephropathy. Retinopathy and nephropathy are microvascular diseases that occur as a consequence of long-term diabetes. An overlap of the genes and SNPs revealed only one gene and one SNP to be common among the three diseases. The pathways associated with these diseases showed overlap to a certain extent. In this study, we have pooled all the genes and genetic variants associated with these three diseases and analyzed the overlaps/interactions. Such analyses lead to a better understanding of the disease mechanisms. We have analyzed the data using various tools such as KEGG, GO, and Network Analyst. Several genes were identified that have a significant role in the pathways of all three diseases. <em>EPO</em> is the only gene which was identified to be associated commonly among the three diseases. Among the genetic variants, rs1617640 of the gene <em>EPO</em> is the only common variant among the three diseases. The data cataloged in this paper serves as a genomic resource for diabetes and its associated microvascular diseases and it will also benefit as a resource for scientists working in this area of research.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201362"},"PeriodicalIF":0.5,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142698280","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}

{"title":"Network pharmacology and molecular docking insights into Sirtuin-2 inhibitors (AK-7 and AGK-2): A synergistic strategy for COPD treatment","authors":"Vandana Yadav ,&nbsp;Vinita Pandey ,&nbsp;Pratikkumar Gaglani ,&nbsp;Atul Srivastava ,&nbsp;Soni ,&nbsp;Subhashini","doi":"10.1016/j.humgen.2024.201360","DOIUrl":"10.1016/j.humgen.2024.201360","url":null,"abstract":"<div><h3>Objective</h3><div>In the present study network pharmacology analysis of AGK-2 and AK-7 (SIRT-2 inhibitors) were performed to elucidate their mechanism in regulating COPD pathogenesis.</div></div><div><h3>Methods</h3><div>Different database (Swiss Target Prediction, GeneCards and DisGeNet) were used for predicting targets of compound and disease. Drug-Target network was constructed using Cytoscape while functional enrichment and pathway analyses were performed using STRING database. ShinnyGo database was utilized for Annotation, Visualization, and Integrated Discovery, along with Kyoto Encyclopedia of Genes and Genomes Pathway (KEGG). Molecular docking was performed to assess the binding affinities of AGK-2 and AK-7 to key proteins.</div></div><div><h3>Results</h3><div>AK-7 and AGK2 revealed 43 and 41 targets while 3392 targets related to COPD were found. Protein-protein interaction (PPI) network revealed 43 nodes and 133 edges for AK-7 and 41 nodes and 110 edges for AGK-2. Enrichment analysis highlighted distinct involvement of AGK-2 and AK-7 in various aspects of respiratory physiology including molecular signaling and neuronal secretions. AGK-2 revealed to influence pathways as EGFR and Ras/Raf/MAPK, while AK-7 targeted pathways like nitric oxide synthatase and tuberculosis, as well as regulating calcium signaling and neuro-immune interactions associated with COPD. Finally molecular docking revealed that AGK-2 showed good binding affinity with MAPK14 and STAT3. Whereas AK-7 with CASP3 and CXCL8. The findings highlight potency of AGK-2 and AK-7 in modulating inflammation, reactive oxygen species, and neuroimmune interactions, suggesting their efficacy in COPD management through SIRT-2 regulation.</div></div><div><h3>Conclusion</h3><div>The study offers novel insights into the potential of SIRT-2 inhibitors to modulate disease mechanisms at a molecular level.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201360"},"PeriodicalIF":0.5,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142746426","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}

{"title":"β2_adrenergic receptor gene polymorphisms p.Gly16Arg and p. Glu27Gln in Sudanese patients with bronchial asthma: A case-control study","authors":"Menas A. Abdalla ,&nbsp;Omer Alguily Yousif ,&nbsp;Salah Eldin G. Elzaki ,&nbsp;Ahmed Mohamedain ,&nbsp;Hamdan Z. Hamdan","doi":"10.1016/j.humgen.2024.201359","DOIUrl":"10.1016/j.humgen.2024.201359","url":null,"abstract":"<div><h3>Background</h3><div>Several reports have indicated the involvement of β2-adrenergic receptor gene (ADRB2) polymorphisms rs1042713 p.Gly16Arg and rs1042714 p.Glu27Gln in susceptibility to bronchial asthma and its clinical severity. This study investigated the genotype frequencies of these two polymorphisms in Sudanese patients with bronchial asthma, compared them to a healthy control group, and correlated the genotypes with the clinical severity of asthma.</div></div><div><h3>Methods</h3><div>A case-control study, matched for age, sex, and body mass index (BMI) was conducted at Al-Shaab Teaching Hospital in Khartoum, Sudan, between January and April 2022. The study included fifty subjects in each arm: adults with bronchial asthma were cases and healthy individuals were controls. Genotyping for rs1042713 p.Gly16Arg and rs1042714 p.Glu27Gln was determined by allele-specific polymerase chain reaction. Adjusted odds ratio (aOR) was calculated using asthma as a dependent factor and variables like ADRB2 gene polymorphisms, age, BMI, and sex as independent factor.</div></div><div><h3>Results</h3><div>The genotype GG (Gly16Gly) in the <em>ADRB2</em> rs1042713 p.Gly16Arg was more prevalent in cases compared to controls (28 % vs. 10 %) and showed a significant risk effect for bronchial asthma [aOR = 3.81, 95 % CI (1.23–11.80); <em>p</em> = 0.020]. The allele G is more frequent in cases than controls, however it was not statistically significant [OR = 1.27, 95 % CI (0.72–2.22); <em>p</em> = 0.394]. For <em>ADRB2</em> rs1042714 p.Glu27Gln, none of the genotypes or alleles showed any significant association with bronchial asthma. Additionally, none of the genotypes in the two gene polymorphisms were associated with the clinical severity of asthma.</div></div><div><h3>Conclusion</h3><div>In this study, the <em>ADRB2</em> rs1042713 p.Gly16Arg gene polymorphism showed a significant risk effect for bronchial asthma, while no association was observed with <em>ADRB2</em> rs1042714 p.Glu27Gln, further study is needed.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201359"},"PeriodicalIF":0.5,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142698203","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}