Human Gene最新文献

{"title":"Harnessing apigenin for breast cancer treatment: Current insights","authors":"Rajesh Kumar,&nbsp;Srividya Shivakumar","doi":"10.1016/j.humgen.2025.201454","DOIUrl":"10.1016/j.humgen.2025.201454","url":null,"abstract":"<div><div>Breast cancer (BC) continues to be the world's leading cause of mortality for women. Despite advancements in cancer treatments such as radiation, hormone therapy, chemotherapy, and targeted therapy, these methods often have significant adverse effects and damage healthy cells. Keeping in view these limitations, there is an urgent need to produce safe, accessible, and efficient breast anticancer treatments. Apigenin (API), a flavonoid derived from edible plants, has garnered considerable attention in recent years. In silico, in vitro, and in vivo investigations, API has shown encouraging chemopreventive properties. In particular, it has been demonstrated that API inhibits the growth of cancer cells, trigger apoptosis, and alter key signaling pathways that involved to the onset of cancer. With regard to BC and cancer stem cells (CSCs), the objective of this review is to present a comprehensive outline of the recent study on API, clarifying its mechanisms of action, pharmacokinetics, therapeutic efficacy, bioavailability, cytotoxicity and potential as a supplement to conventional cancer therapies. The information provided will be helpful to researchers and medical professionals who are interested in learning more about alternative cancer treatments.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201454"},"PeriodicalIF":0.5,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144713758","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":"Association of APOC3 and PNPLA3 genetic polymorphism in adult Pakistani population with non-alcoholic fatty liver disease","authors":"Muhammad Masroor ,&nbsp;Zeba Haque ,&nbsp;Haya Anwar ,&nbsp;Farina Hanif ,&nbsp;Waqas Ahmed Farooqui","doi":"10.1016/j.humgen.2025.201453","DOIUrl":"10.1016/j.humgen.2025.201453","url":null,"abstract":"<div><h3>Background</h3><div>NAFLD occurs in many individuals without obesity, metabolic syndrome, or diabetes, indicating other factors like genetic predisposition play a significant role.</div></div><div><h3>Objective</h3><div>This study investigates the association between genetic polymorphisms (PNPLA3 and APOC3) and metabolic markers, including liver enzymes and HbA1c, in predicting NAFLD within a Pakistani population.</div></div><div><h3>Methods</h3><div>This case-control study was conducted at Dow University of Health Sciences from 2015 to 2021. This reports part of the data from a larger project exploring risk factors for NAFLD. Data from 60 participants including gender and age matched 43 NAFLD cases and 17 controls were analyzed for genetic polymorphisms (PNPLA3 rs738408, rs738409; APOC3 rs2845116, rs2845117) with power estimates ranging from 71.6 to 90 % for genetic parameters. Anthropometric, biochemical, and liver enzyme measurements and DNA sequencing were performed. Categorical variables were analyzed using chi-square or Fisher's exact tests, for continuous variables independent <em>t</em>-tests (normally distributed) and Mann-Whitney <em>U</em> tests for non-normal liver parameters were applied. Genetic associations were evaluated through chi-square tests with Monte Carlo simulation (for small cell counts) and effect sizes calculated using Cramer's V.</div></div><div><h3>Results</h3><div>Significant associations were found between NAFLD and polymorphisms APOC3 rs2845117 (C allele, <em>p</em> = 0.027 and APOC3 rs2845116 (T allele, <em>p</em> = 0.039). A significant association was also observed for PNPLA3 10109C &gt; G (<em>p</em> = 0.00.030) but not PNPLA3 rs738408; 10,112C &gt; T (<em>p</em> = 0.073). Cases showed significantly higher BMI, HbA1c, fasting blood glucose, serum triglycerides, and liver enzymes (ALT, Alkaline phosphatase, Gamma GT) compared to controls (<em>p</em> &lt; 0.05).</div></div><div><h3>Conclusions</h3><div>Metabolic and anthropometric factors were strongly associated with NAFLD. Genetic variants in <em>APOC3</em> (rs2845117, rs2845116) and <em>PNPLA3</em> (rs738409) but not rs738408 showed significant associations with NAFLD. <em>APOC3</em> rs2845117 CC conferring the highest risk for NAFLD. These markers may aid early detection and guide targeted prevention.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201453"},"PeriodicalIF":0.5,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144713759","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":"Predicting the functional consequences of non-synonymous single nucleotide polymorphism (nsSNPs) in human IL-18 gene: an in-silico approach","authors":"Praveen Kumar Sahni ,&nbsp;Bunty Sharma ,&nbsp;Sanjay Kumar Singh ,&nbsp;Damandeep Kaur ,&nbsp;Shafiul Haque ,&nbsp;Hardeep Singh Tuli ,&nbsp;Ujjawal Sharma","doi":"10.1016/j.humgen.2025.201451","DOIUrl":"10.1016/j.humgen.2025.201451","url":null,"abstract":"<div><div>Single nucleotide polymorphisms (SNPs) are prevalent genetic variations that can alter protein structure and function, contributing to disease susceptibility and progression. Among SNPs, non-synonymous SNPs (nsSNPs) occurring in coding regions lead to amino acid substitutions, potentially altering protein properties. Interleukin 18 (IL-18), a pro-inflammatory cytokine, plays a significant role in maintaining immune responses, inflammation, and cell signaling and has been associated with various inflammatory diseases and cancer. Understanding the impact of nsSNPs in IL-18 protein structure, function, and disease association can be crucial in understanding its biological roles and clinical implications. The study aims to predict the functional consequence of nsSNPs in the human <em>IL18</em> gene and explore the correlation between IL-18 dysregulation and cancer patient survival rates. The study involves an in-silico approach to identify, characterize, and validate harmful nsSNPs. The tools include SIFT, PROVEAN, and PolyPhen-2 to identify deleterious SNP. I-Mutant 2.0 was used to assess protein stability, MutPred2 was used to identify disease-associated SNPs, and Clustal Omega and ConSurf were used for conservation analysis. Furthermore, the tertiary structure of the mutant protein was modelled and compared to the wild type using I-Tasser, ChimeraX, and ClusPro. Finally, the Kaplan Meier plot explores the correlation between gene deregulation and cancer patient survival rates. Analysis of 7802 SNPs identified 31 high-confidence nsSNPs in coding regions, with stability analysis revealing 23 destabilizing and 5 stabilizing nsSNPs. MutPred2 suggested potential functional changes. Conservation analysis identified critical residues, including D71G, E67D, E34A, and S111F (highly conserved and exposed) and Y24H, A162T, F137S, F137L, and V98G (conserved and buried). The mutant-modelled protein showed minor deviations from wild-type IL-18 proteins. The docking result revealed altered binding affinities with the IL-18 receptor. The Kaplan-Meier analysis revealed that high IL18 expression is associated with poor survival in gastric and lung cancers, while low expression is linked to poor outcomes in breast and ovarian cancers.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201451"},"PeriodicalIF":0.5,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144662603","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":"Unveiling the functional implications of long noncoding RNA (lncRNA) encoded peptides in various diseases","authors":"Anto Antony Selvaraj ,&nbsp;Rajshri Singh ,&nbsp;Sagar Barage","doi":"10.1016/j.humgen.2025.201452","DOIUrl":"10.1016/j.humgen.2025.201452","url":null,"abstract":"<div><div>Long non-coding RNAs (lncRNAs), once deemed to be non-coding sequences, but recent discoveries in genomic profiling prove that they code for small peptides with functional properties. These lncRNA-encoded peptides, known as lncPeptide (lncPEPs), have found to be involved various biological pathways with critical implications in various diseases. This review explores the expanding role of lncPEPs by examining their structural domains and their functions across various cellular pathways. It also elaborates its applications as novel biomarkers and therapeutical targets, with major focus on their involvement in disease progression. We have presented both the experimental and computational approaches used to discover and validate lncPEPs and key methodologies including ribosome profiling, targeted proteomics, CRISPR-based loss-of-function screens, and specialized bioinformatic pipelines for coding-potential prediction. Based on recent experimental findings and computational analysis, we highlight the growing functional significance of lncRNAs which underscore the potential of lncPEPs in future research on disease diagnosis and therapeutic development.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201452"},"PeriodicalIF":0.5,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144656270","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":"Relationship between the rs1799752 polymorphism of angiotensin-converting enzyme gene and susceptibility to sepsis in Egyptian patients: A single-center prospective study","authors":"Eman Mohamed Abdellatif ,&nbsp;Emad Hamdy Hamouda Mohammed ,&nbsp;Sally Wassfi Zaki Hammad","doi":"10.1016/j.humgen.2025.201450","DOIUrl":"10.1016/j.humgen.2025.201450","url":null,"abstract":"<div><h3>Background</h3><div>Early diagnosis of sepsis is a crucial component in improving disease prognosis and reducing mortality. The interindividual variations in susceptibility to sepsis, and in disease outcome, can be affected by several interacting elements including genetic factors. We aimed to investigate the relation of the angiotensin converting enzyme 1 (ACE1) gene polymorphism rs1799752 with the risk of sepsis in adult patients, and its relation with disease severity and prognosis.</div></div><div><h3>Methods</h3><div>In this case-control prospective study, we included 65 adult sepsis patients and 65 control subjects. For all study subjects, blood samples were collected for DNA extraction, followed by polymerase chain reaction for ACE1 rs1799752 genotyping. Clinical, laboratory data, and severity scores were recorded. Patients were followed up, and were divided into survivors (<em>n</em> = 40) and non-survivors (<em>n</em> = 25).</div></div><div><h3>Results</h3><div>DD genotype and D allele were significantly more frequent in sepsis patients than in control group, (<em>p</em> = 0.011, <em>p</em> = 0.022, respectively). Although DD genotype was associated with an increased risk of sepsis in univariate analysis, it was an insignificant risk factor in multivariate analysis (OR 1.455, 95 %CI 0.609–3.476, <em>p</em> = 0.399). SOFA scores and APACHEII scores were significantly higher in patients with DD genotype than other genotypes (<em>p</em> &lt; 0.001). Multivariate regression analysis showed that DD genotype was a significant independent predictor of mortality in the included patients.</div></div><div><h3>Conclusion</h3><div>The current observations revealed a potential prognostic role of the ACE1 insertion/deletion polymorphism in sepsis, where the DD genotype was significantly associated with greater disease severity and higher mortality rates, in comparison with other genotypes.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201450"},"PeriodicalIF":0.5,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144632122","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":"Association of mir196a2 and mir146a polymorphisms and colorectal cancer risk: A meta-analysis","authors":"Zahraa isam jameel ,&nbsp;Hanan Ali Kareem ,&nbsp;Zahraa Mohammed Yahya ,&nbsp;Ahmed Ali Hussein ,&nbsp;zahraa abdel Kareem","doi":"10.1016/j.humgen.2025.201448","DOIUrl":"10.1016/j.humgen.2025.201448","url":null,"abstract":"<div><div>Non-coding RNAs known as microRNAs (miRNAs) play a role as oncogenes or tumor suppressors. One form of genetic variation in the human genome is single nucleotide polymorphism (SNP) in miRNA regions. The relationships between miRNA SNPs and different types of cancer have been the subject of numerous investigations. This article looks into the link between colorectal cancer (CRC) and specific variations known as mir-196a2 and mir-146a. It does this by reviewing related research studies. To find all the papers that were relevant, we searched the literature in PubMed, Web of Science, and Science Direct. We evaluated the associations using three genetic models, which included a pooled ratio and a 95 % confidence range. In the groups from China, Italy, and Greece, we found a strong connection between the mir-196a2 genetic variation and colorectal cancer (CRC). The odds ratios (OR) for the different models were: for the additive model, it was 1.99, which means there was a significant link; for the dominant model, it was 1.24, which also meant there was a significant link; and for the recessive model, it was 1.09, which also meant there was a significant link. We found that the mir-146a variant greatly lowered the risk of cancer in allele (OR 0.32, 95 % CI 0.30–0.34, <em>p</em> = 0.0001, G vs. C), dominant (OR 0.72, 95 % CI 0.68–0.77), and heterozygous codominant (OR 0.51, 95 % CI 0.49–0.54, p = 0.000, GC vs. CC) genetic models. Stratified studies found that the mir-146a variation significantly reduced the risk of colon cancer. This meta-analysis adds to the growing body of evidence linking the mir-196a2 gene variant to colorectal cancer, particularly in the populations of Greece, Italy, and China. Our results indicate that the C/G polymorphism of miR-146a does not seem to be associated with CRC susceptibility. We need additional case-control studies to back up our findings in the future.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201448"},"PeriodicalIF":0.5,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144632123","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":"Epigenetic modifications in Bone metabolism: Exploring the link with osteoporosis","authors":"Kolawole Yusuf Suleiman ,&nbsp;Hamidu Ahmed ,&nbsp;Kigir Esther Solomon ,&nbsp;Gbadebo Hakeem Ibraheem ,&nbsp;Abdulbaki Adio Alfa-Ibrahim ,&nbsp;Okediran Babatunde Samuel ,&nbsp;Alhaji Zubair Jaji","doi":"10.1016/j.humgen.2025.201449","DOIUrl":"10.1016/j.humgen.2025.201449","url":null,"abstract":"<div><div>Osteoporosis is a pervasive skeletal disorder characterized by diminished bone mass and structural deterioration, resulting in heightened fracture risk. While genetic predispositions and hormonal factors have been extensively studied, a significant portion of osteoporosis pathogenesis remains unexplained, necessitating a deeper exploration of the role of epigenetic modifications. This review elucidates the intricate interplay between epigenetic mechanisms, specifically DNA methylation, histone modifications, and non-coding RNAs, and bone metabolism. We discuss how these reversible modifications serve as critical regulators influenced by environmental factors, lifestyle, and age, thus representing a nexus between genetic susceptibility and external risk factors.</div><div>Emerging evidence highlights the epigenetic alterations in key genes involved in osteogenesis and osteoclastogenesis, underscoring their contributions to the development of osteoporosis. Furthermore, we explore innovative therapeutic strategies targeting these epigenetic changes, such as DNA methyltransferase inhibitors and histone deacetylase inhibitors, which offer promising routes for restoring normal bone function and providing personalized therapeutic options. The insights garnered from this review position epigenetics as a transformative frontier in osteoporosis research, with the potential to unveil novel biomarkers for early diagnosis and targeted treatment strategies. This comprehensive examination of epigenetic influences on bone health underlines the urgency for continued research in this domain, aiming to improve therapeutic outcomes and enhance overall disease management.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201449"},"PeriodicalIF":0.5,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144656269","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":"Integrated meta-analysis reveals circulating miRNA panel for hepatocellular carcinoma diagnosis","authors":"Isbah Ashfaq ,&nbsp;Naz Fatima ,&nbsp;Nadeem Sheikh ,&nbsp;Asima Tayyeb","doi":"10.1016/j.humgen.2025.201440","DOIUrl":"10.1016/j.humgen.2025.201440","url":null,"abstract":"<div><h3>Objective</h3><div>HCC is the leading cause of deaths primarily in patients with liver ailment. Considering its incidence rate as global burden, efficacy of multiple drugs have changed the landscape of overall management of this disease. Recently, diagnosis based on non-invasive microRNAs has impacted the clinical outcomes of various cancers. The current study focuses on identifying potential non-invasive biomarkers for the early detection of HCC.</div></div><div><h3>Methods</h3><div>This research underscores the significance of a unique panel of circulating miRNAs observed at three distinct stages of liver disease: chronic hepatitis, liver cirrhosis, and HCC. The dataset, comprising microarray profiles of circulating miRNAs, was acquired from GEO repository. The DE-miRNAs and their overlapping at different stages of liver diseases were identified. The bioinformatics analyses were performed and statistical analysis was conducted to identify the significant and unique panel of circulating miRNAs.</div></div><div><h3>Results</h3><div>Altogether, 3 miRNAs such as hsa-miR-1290, hsa-let-7a-5p, and hsa-mir-16-5p were found with AUC ≥0.80 and <em>P</em>-value ≤0.05. Furthermore, pathways enrichment analysis revealed association of genes and signalling pathways.</div></div><div><h3>Conclusion</h3><div>In conclusion, suggested panel of circulating miRNAs may provide a potential approach for non-invasive diagnosis of HCC. These miRNAs could serve as timely indicators for detecting HCC, thereby offering a promising strategy for the effective management of this condition.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201440"},"PeriodicalIF":0.5,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549375","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 colorectal cancer mechanisms: Insights from a regulatory network of ncRNAs, TFs, and mutated genes","authors":"Pankaj Kumar Tripathi,&nbsp;Chakresh Kumar Jain","doi":"10.1016/j.humgen.2025.201447","DOIUrl":"10.1016/j.humgen.2025.201447","url":null,"abstract":"<div><div>Colorectal cancer (CRC) presents a significant challenge due to its complexity and high mortality rates, yet the precise molecular drivers remain elusive. Non-coding RNAs (ncRNAs), known for their roles in various cancers including CRC, are implicated in these intricate mechanisms. This study aimed to elucidate key regulators by constructing a regulatory network integrating CRC patient-mutated genes with transcription factors (TFs) and ncRNAs. Utilizing Onco-DB and COSMIC, we detected overexpressed genes and analyzed their mutational profiles, constructing a curated interactome network. Topological analysis identified the top ten hub genes, with five (CDK1, MYC, TOP2A, CCNA2, BRCA1) implicated in the gene regulatory network (GRN). These genes, characterized by high mutation rates, play pivotal roles in CRC tumour formation via mechanisms like gene amplification, cancer progression, proliferation, and migration. Additionally, potential TFs (SP1, E2F1, ESR1, MYC, E2F3) and miRNAs (hsa-miR-16-5p, hsa-miR-186-5p, hsa-miR-29b-3p) were identified, as a regulatory element. Additionally, the construction of the ceRNA network revealed that the 7 circRNA and 3 lncRNA collectively sponged the same miRNA “hsa-miR-16-5p”, ultimately affecting the expression of targeted mRNA BRCA1 and CDK1. This comprehensive approach sheds light on the molecular mechanisms of regulatory elements underlying CRC development, offering insights for clinical diagnosis and innovative treatment strategies.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201447"},"PeriodicalIF":0.5,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144588729","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":"Investigation the role of ADRB2 rs1042713 and rs1042714 polymorphisms among COPD patients of West Bengal population, India","authors":"Nasima Sultana ,&nbsp;Indranil Ganai ,&nbsp;Saheen Sultana ,&nbsp;Himani Adhikari ,&nbsp;Arghya Laha ,&nbsp;Himani Biswas ,&nbsp;Saibal Moitra ,&nbsp;Sanjoy Podder","doi":"10.1016/j.humgen.2025.201446","DOIUrl":"10.1016/j.humgen.2025.201446","url":null,"abstract":"<div><h3>Background</h3><div>Chronic obstructive pulmonary disease (COPD) is a complex lung disease characterized by restricted airflow and breathing problems. β2-adrenergic receptor (β2AR) encoded by β2-adrenergic receptor gene (<em>ADRB2</em>) is a transmembrane receptor protein expressed in the airway smooth muscle cells and found to be associated with COPD in various populations. However, no studies were performed in any Indian population so far.</div></div><div><h3>Objectives</h3><div>The present study aims to investigate the association between <em>ADRB2</em> polymorphisms rs1042713 and ras1042714 and COPD focusing on their expression analysis on RNA level in West Bengal population, India.</div></div><div><h3>Methods</h3><div>Epidemiological details including smoking status of 523 patients and 428 controls between 40 and 80 years of age was recorded in self-prepared questionnaire. Spirometry was performed to assess forced expiratory volume in 1 s/forced vital capacity (FEV₁/FVC), FEV₁ and peak expiratory flow rate. Genotyping was done by Polymerase chain reaction-Restriction fragment length polymorphism. qRT-PCR results were calculated using 2-ΔΔCq method.</div></div><div><h3>Results</h3><div>Genotype frequencies of rs1042713AA and rs1042714CC genotypes were significantly higher in COPD patients than controls (<em>P</em> = 0.02 and 0.01 respectively). Smoker patients with rs1042713AA and rs1042714CC genotypes had significantly lower FEV₁ (<em>P</em> &lt; 0.0001). A linear inverse relationship was found between smoking duration and both FEV₁ and FEV₁/FVC in smoker patients (<em>P</em> &lt; 0.00001). The ADRB2 mRNA expression was significantly decreased in the 46AA/79CC haplotype (<em>P</em> = 0.04) than 46AA/79GG, 46GG/79CC as compared with wild-type haplotype 46GG/79GG.</div></div><div><h3>Conclusion</h3><div>The present study is the first to report that <em>ADRB2</em> polymorphisms (rs1042713 and rs1042714) are associated with COPD susceptibility through mRNA expression analysis among West Bengal population, India.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201446"},"PeriodicalIF":0.5,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144588630","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}