Gene Reports最新文献

{"title":"Correlation of miRNA-124-3p and SP1 expression levels in spinal cord injury","authors":"Maryam Zand ,&nbsp;Mehdi Sadegh ,&nbsp;Behzad Khansarinejad ,&nbsp;Mahdieh Mondanizadeh","doi":"10.1016/j.genrep.2025.102231","DOIUrl":"10.1016/j.genrep.2025.102231","url":null,"abstract":"<div><h3>Background</h3><div>Spinal cord injury (SCI) is a serious traumatic event affecting the central nervous system, leading to severe mobility and functional impairments. MicroRNAs, particularly miR-124, play a crucial role in neurogenesis and neuronal protection in this condition. Concurrently, Specific Protein 1 (SP1) is involved in various cellular processes, including cell growth and apoptosis. This study investigates the relationship between miR-124-3p and SP1 expression levels in a rat model of spinal cord injury.</div></div><div><h3>Methods</h3><div>An experimental study was conducted using 72 male Wistar rats, divided into three groups: SCI, sham, and control. A standardized SCI model was established through a mechanical compression method at the T9-T10 spinal region. Motor function was assessed using the Basso, Beattie, and Bresnahan (BBB) scoring system at four-time points: 1 h, 1 day, 3 days, and 7 days post-injury. Histological examination was performed via Nissl staining, while RT-qPCR was used to quantify miR-124-3p and SP1 expression levels in spinal cord tissues.</div></div><div><h3>Results</h3><div>The BBB scores indicated a significant decline in motor function across all time points post-SCI. Histological analysis confirmed successful injury induction. Notably, miR-124-3p expression decreased significantly in the SCI group compared to controls, whereas SP1 levels increased significantly following injury.</div></div><div><h3>Conclusions</h3><div>This study demonstrates a marked reduction of miR-124-3p alongside an elevation of SP1 levels in response to SCI. These findings suggest a complex interplay between these molecules that may influence neuronal response and recovery mechanisms post-SCI. Understanding this relationship could provide insights into potential therapeutic targets for enhancing recovery following SCIs.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102231"},"PeriodicalIF":1.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143878688","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":"Genetic polymorphisms and enamel caries susceptibility: A comprehensive review","authors":"Mehdi Akafzadeh ,&nbsp;Bahar Bonakdar ,&nbsp;Yasin Nazari ,&nbsp;Atefe Ali Moradi ,&nbsp;Shakiba Akbarian","doi":"10.1016/j.genrep.2025.102235","DOIUrl":"10.1016/j.genrep.2025.102235","url":null,"abstract":"<div><div>Dental caries remains a significant global public health challenge, affecting millions of individuals and highlighting the need for effective prevention strategies. Notably, genetic polymorphisms, particularly single nucleotide polymorphisms (SNPs), play a critical role in individual susceptibility to caries by influencing enamel formation, salivary composition, and immune responses. Enamel caries remains a significant public health concern, influenced by a complex interplay of genetic and environmental factors. This comprehensive review explores the critical role of genetic polymorphisms in susceptibility to enamel caries. By identifying risk alleles, dental professionals can tailor preventive strategies, including customized fluoride treatments and dietary recommendations, to individual genetic profiles. Such targeted interventions can empower patients to adopt healthier behaviors, thereby reducing caries incidence. Understanding the genetic underpinnings of dental caries will advance both research and clinical practice, leading to more effective prevention strategies and improved patient outcomes.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102235"},"PeriodicalIF":1.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928006","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":"Mapping immunogenic epitopes of F13L protein in Mpox Clade Ib: HLA-B*08 and HLA-DRB1*01 as predictors of antigen presentation, disease incidence, and lethality","authors":"Israel Lara-Vega ,&nbsp;Armando Vega-López","doi":"10.1016/j.genrep.2025.102232","DOIUrl":"10.1016/j.genrep.2025.102232","url":null,"abstract":"<div><div>Mpox, an infectious disease caused by the MPXV virus, can lead to painful skin rashes, lymphadenopathy, and fever. While most individuals recover fully, some develop severe illness. The Clade Ib Mpox outbreak is primarily driven by human-to-human transmission, underscoring the urgent need for a coordinated response at national, regional, and international levels. The prediction of epitopes based on human leukocyte antigen (HLA) antigen presentation and their association with disease outcomes forms a crucial basis for developing targeted therapies. This study conducted a bioinformatic prediction of T-cell epitopes and their HLA class I and II-restricted alleles to identify immunogenic epitopes and HLA alleles of the Clade Ib F13L protein of Mpox, an essential protein for viral maturation and the formation of enveloped virions. Moreover, we explored correlations between these epitopes and incidence and lethality rates in hospitalized patients, using data from various regions as an example. We identified a set of 10 epitopes with immunogenic potential and several HLA alleles predicted to efficiently present these epitopes to T cells. Notably, a statistically significant negative correlation was observed between the frequency of HLA-B*08 and HLA-DRB1*01 alleles and incidence and lethality rates in hospitalized patients in Mexico, illustrating potential broader implications.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102232"},"PeriodicalIF":1.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864902","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":"Genetic parameters, phenotypic diversity, selection differential and gain analysis through EFA, HCA and multivariate analysis for growth, yield and yield components in potato (Solanum tuberosum L)","authors":"K. Hanume Gowda ,&nbsp;H. Amarananjundeswara ,&nbsp;B. Fakrudin ,&nbsp;K.R. Vasudeva ,&nbsp;Jyoti Kattegoudar ,&nbsp;B. Doddabasappa","doi":"10.1016/j.genrep.2025.102225","DOIUrl":"10.1016/j.genrep.2025.102225","url":null,"abstract":"<div><div>Potato is a globally significant food crop and a vital source of nutrition, plays a crucial role in food security due to its high productivity, nutritional value and adaptability to diverse agro-climatic conditions. This study was conducted at Horticulture Research and Extension Centre, Haasan during kharif and rabi season of 2021–22, aimed to investigates genetic parameters, phenotypic diversity, selection differential and gain to identify high yielding superior potato genotypes using Pearson's correlation analysis, hierarchical cluster analysis (HCA), principal component analysis (PCA), exploratory factor analysis (EFA) and multi-trait genotype ideotype distance index (MGIDI) analysis to enhance growth, yield and yield components. The pooled ANOVA revealed significant genotypic, environmental and G × E interactions, with stable growth, yield traits and genotype-specific responses for tuber size and weight. Significant positive correlations were found between tuber yield per plant and traits like tuber size (<em>r</em> = 0.52), tuber diameter (<em>r</em> = 0.44) and plant height (<em>r</em> = 0.50). Hierarchical clustering identified 2 major clusters, with Cluster 1 genotypes showing high performance for growth and yield traits. PCA revealed 6 components explaining 81.05 % of variance, with PC1 associated with tuber yield per hectare (0.34), tuber yield per plot (0.34), number of tubers per plant (0.33), and tuber yield per plant (0.33) and PC2 on number of leaves at 75 days after planting (DAP) (0.52), number of internodes (0.49) and number of branches per plant at 75 DAP (0.43), while the PCA biplot grouped genotypes into 4 quadrants, highlighting superior performance in Quadrant II and lower performance in Quadrant IV for growth and yield traits. The factor analysis identified 6 factors influencing growth, yield, and yield components in potatoes. FA1 primarily relates to yield traits, such as tuber yield per hectare (−0.94), number of tubers per plot (−0.87), tuber yield per plot (−0.94), and haulm yield on a fresh weight basis (−0.80). FA2 is associated with vegetative growth, capturing the number of branches at 75 DAP (0.79), number of leaves at 75 DAP (0.69), and number of internodes (0.87). High selection gain was reported for number of tubers per plant (31.7 %), number of tubers per plant (24.1 %), tuber yield per plant (23.8 %) emphasizing breeding potential. The MGIDI analysis identified genotypes P-85, P-73, RH-2, P-69, P-83, and P-58 as superior for multiple traits. This study successfully identified superior potato genotypes with high yield potential and stable growth traits through genetic parameter analysis, PCA, HCA, EFA, selection differential, and MGIDI, offering valuable insights for targeted breeding to enhance productivity and adaptability.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102225"},"PeriodicalIF":1.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842553","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":"Harnessing genetic potentials for drought tolerance in wheat (Triticum aestivum L.) using tolerance indices and molecular markers","authors":"Mst. Anamika Amzad ,&nbsp;Md. Arifuzzaman ,&nbsp;Md. Ashraful Alam","doi":"10.1016/j.genrep.2025.102230","DOIUrl":"10.1016/j.genrep.2025.102230","url":null,"abstract":"<div><div>Drought is a major abiotic stressor in bread wheat that causes substantial yield losses globally. So, the investigation was conducted to find out drought tolerant genotypes in bread wheat using tolerance indices and molecular characterization at juvenile and grain filling stages. The experiments were conducted with 30 bread wheat genotypes and 54 simple sequence repeats (SSRs) alleles. The experiment was designed as randomized complete block design with three treatments viz. 0 M, 0.2 M, and 0.4 M mannitol solution at juvenile stages and split plot design with two treatments viz. control and drought at grain filling stages. The results revealed significant variations among the genotypes for traits under study in both stages. To reveal drought tolerance among the genotypes, six drought tolerance indices were employed. The genotype BARI Gom 30, BARI Gom 32, BARI Gom 22, BARI Gom 26, BARI Gom 27 and BWMRI-1 carried superior rank score and regarded as drought tolerant genotypes. For molecular genetic characterization, in total 54 alleles were detected using SSRs where number of alleles locus ranged from 4 to 9 with an average of 5.4. The 30 bread wheat genotypes grouped into two populations and four unique clusters. Finally, considering the morpho-physiological and molecular study, the genotypes BARI Gom 22, BARI Gom26, BARI Gom 30 and BARI Gom 32 are identified as drought tolerant genotypes and provide an undertaking aims for further research and breeding efforts to develop wheat varieties with tolerance against drought to subtropical environments.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102230"},"PeriodicalIF":1.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143854435","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":"Genetic categorization of congenital genitourinary abnormalities from an embryological perspective","authors":"Daniel Eduardo Bejarano-García ,&nbsp;Ana María Vega-Pantoja ,&nbsp;Jessica M. Forero-Delgadillo ,&nbsp;Vanessa Amparo Ochoa-Jiménez ,&nbsp;Alexis Gomez ,&nbsp;Matthew G. Sampson ,&nbsp;Harry M. Pachajoa-Londoño ,&nbsp;Alejandro Padilla-Guzmán ,&nbsp;Ana María Portilla-Buenaventura ,&nbsp;Jaime M. Restrepo","doi":"10.1016/j.genrep.2025.102229","DOIUrl":"10.1016/j.genrep.2025.102229","url":null,"abstract":"<div><div>With the acquisition of more advanced technology, new concepts have emerged that contribute to understanding pathologies in the pediatric population, including nephropathies and uropathies, while knowledge of embryology, genetics, and molecular biology has helped refine diagnostic and therapeutic approaches. Various areas of Pediatric Nephrology apply these scientific advancements in genetics and molecular biology, such as the diagnosis and management of renal anomalies, renal neoplasms, and hypertension. These topics, previously underexplored in children with kidney disease from a genetic standpoint due to their low incidence and lack/expense of genotyping technologies, are gaining recognition due to their implications in the progression toward chronic kidney failure.</div><div>This review aims to provide insights into the relevance of genetic evaluation of extra-renal anomalies related to kidney and urinary tract malformations, such as in cases of single umbilical artery, underdevelopment of facial bones, abnormalities of the orbits and auricles, congenital heart diseases, anorectal malformations, external genitalia alterations, supernumerary nipples, as well as all abnormalities observed during prenatal ultrasounds.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102229"},"PeriodicalIF":1.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842554","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":"A reappraisal of chloroplast genetic SNPs in phylogeny and barcoding of Pteris species (genus Pteris L.): Multispecies coalescence analysis, ancient hybridization, and deep coalescence","authors":"Maedeh Alaeifar,&nbsp;Masoud Sheidai,&nbsp;Fahimeh Koohdar","doi":"10.1016/j.genrep.2025.102224","DOIUrl":"10.1016/j.genrep.2025.102224","url":null,"abstract":"<div><div>The genus <em>Pteris</em> L. (Pteridaceae) is one of the largest fern genera, comprising about 200 to 250 species distributed globally. There is ongoing debate regarding species classification and phylogeny within <em>Pteris</em>, as phylogenetic studies have revealed incongruences between trees constructed from various genetic regions. To address this, we conducted a multispecies coalescence analysis of <em>matK</em> and <em>rbcL</em> sequences using publicly available data, aiming to identify genetic regions suitable for phylogenetic analysis and molecular barcoding of <em>Pteris</em>. We employed methods such as STAR-BEAST and contained gene coalescence analyses for phylogenetic reconstruction, as well as redundancy analysis (RDA) and latent factor mixed model analysis to pinpoint biologically significant SNPs.</div><div>Our study highlights phylogenetic relationships among <em>Pteris</em> species based on chloroplast DNA sequences, revealing discordance between <em>matK</em> and <em>rbcL</em>. Findings indicated deep coalescence and incomplete lineage sorting (ILS) within the genus. Both D-statistics and admixture analyses showed evidence of genetic admixture and introgression. Notably, <em>matK</em> sequences demonstrated higher success in species delineation than <em>rbcL</em>, with combined data enhancing taxonomic resolution and indicating the role of SNPs in adaptations to local environments. Additionally, species delineation analyses using the GMYC and ASAP methods revealed congruent results, with most species clustering closely, although a few exceptions were observed. The use of concatenated DNA sequences successfully delineated sections within <em>Pteris</em>, highlighting the taxonomic utility of these markers. Divergence time estimation from the concatenated sequences indicated a deep evolutionary history for <em>P. tremula</em>, with the majority of species diverging more recently within the past 1 to 15 million years, further supporting rapid speciation within the genus.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102224"},"PeriodicalIF":1.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860735","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":"Differential roles of catalase-encoding genes (katA and katB) in response to oxidative stress and antibiotics in Pseudomonas aeruginosa","authors":"Albandari Alzaidi,&nbsp;Megan Lajoie,&nbsp;Dong H. Kwon","doi":"10.1016/j.genrep.2025.102226","DOIUrl":"10.1016/j.genrep.2025.102226","url":null,"abstract":"<div><div>Bacterial cells growing under aerobic conditions produce reactive oxygen species that damage macromolecules, which leads to cellular death. However, bacterial cells possess oxidative stress-scavenging systems that detoxify these reactive oxygen species. Antibiotics can induce oxidative stress, which contributes to cellular death alongside their specific killing mechanisms. An imbalance between the oxidative stress-scavenging systems and antibiotic-induced oxidative stress may affect bacterial survival or death. Catalases are one of the oxidative stress-scavenging systems and detoxify hydrogen peroxide, thereby protecting cells from oxidative stress. <em>Pseudomonas aeruginosa</em> is a Gram-negative human pathogen and has multiple genes encoding catalase. This study explores the roles of catalase-encoding genes (<em>katA</em> and <em>katB</em>) in response to oxidative stress and antibiotics in <em>P. aeruginosa</em>. The catalase-encoding genes were knocked out in <em>P. aeruginosa</em> PAO1 and clinical isolates. The resulting mutant strains (<em>katA</em>::Tc, <em>katB</em>::Gm, <em>katA</em>::Tc/<em>katB</em>::Gm) were tested for their susceptibility to hydrogen peroxide, superoxide, and antibiotics. The results showed that the <em>katA</em>::Tc was more susceptible to hydrogen peroxide, while the <em>katB</em>::Gm was more susceptible to superoxide. MIC (minimum inhibitory concentration) levels for <em>katB</em>::Gm with chloramphenicol were decreased by 2- to 4-fold compared to the parental strain. However, MIC levels for <em>katA</em>::Tc remained unchanged for all antibiotics tested. These results indicate that <em>katA</em> and <em>katB</em> detoxify both hydrogen peroxide and superoxide, with <em>katA</em> being more effective against hydrogen peroxide and <em>katB</em> being more effective against superoxide than vice versa. Furthermore, <em>katB</em> appears to confer resistance to oxidative stress induced by chloramphenicol in <em>P. aeruginosa</em>.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102226"},"PeriodicalIF":1.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143842552","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":"Identifying toxicity and tolerance mechanisms of Chlorella sp. exposure to phenol through growth inhibition and comparative transcriptomic analysis","authors":"Manlin Yan,&nbsp;Quanyu Zhao","doi":"10.1016/j.genrep.2025.102227","DOIUrl":"10.1016/j.genrep.2025.102227","url":null,"abstract":"<div><div>Phenol is a typical pollutant in the industrial wastewaters. Degradation capacity of microalgae strongly affects the toxicity of phenol. Not all kinds of microalgae can degrade phenol. In this study, one algal strain, <em>Chlorella</em> sp. QY-1, was selected that cannot degrade phenol. The ecotoxicity of phenol was evaluated by the growth inhibition test and the molecular mechanism was investigated by comparative transcriptomic analysis. <em>Chlorella</em> sp. QY-1 cannot degrade phenol which increase the toxicity and reduce the tolerance compared with a phenol-degrading algal strain, <em>Chlorella</em> sp. L5. <em>Chlorella</em> sp. Comparative transcriptomic analysis revealed the toxicity and tolerance at the gene level. Phenol led to the damage of the related genes of cell wall and DNA replications. No down-regulated genes were found in photosynthesis pathway. It was proved that the down-regulations of CO₂ fixation, ABC transporters and MAPK (mitogen-activated protein kinase) signaling pathway led to the growth inhibition. Only one gene of superoxide dismutase (SOD) was identified to be down-regulated significantly in the related genes to antioxidant enzymes. Theζ-carotene desaturase gene, ZDS, in the pathway of carotenoid biosynthesis was up-regulated. It was indicated that the pigment biosynthesis was part of tolerance. The up-regulated of transcription factor IIH, CCNH, was also beneficial to the tolerance of phenol. The current finding is valuable to evaluate the ecotoxicity of microalgae to pollutants.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102227"},"PeriodicalIF":1.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143833682","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":"Influence of the ACE2, TMPRSS2, TYK2, SLC6A20, and IFNAR2 gene variants on susceptibility to SARS-CoV-2 infection","authors":"Seyedeh Sepideh Aghamirli ,&nbsp;Mohammad Zarif ,&nbsp;Marzieh Khalouei ,&nbsp;Kolsoum Saeidi ,&nbsp;Nasrollah Saleh-Gohari","doi":"10.1016/j.genrep.2025.102228","DOIUrl":"10.1016/j.genrep.2025.102228","url":null,"abstract":"<div><div>This cross-sectional study investigates the genetic factors influencing susceptibility to coronavirus disease 2019 (COVID-19), focusing on the role of key human genes, including <em>angiotensin-converting enzyme 2 (ACE2)</em>, <em>transmembrane serine protease 2 (TMPRSS2)</em>, <em>tyrosine kinase 2 (TYK2)</em>, <em>solute carrier family 6 member 20 (SLC6A20)</em>, and <em>interferon alpha and beta receptor subunit 2 (IFNAR2)</em>. Whole-exome sequencing was performed on a cohort of 100 individuals, both with and without a history of SARS-CoV-2 infection. A total of 140 genetic variations, including single nucleotide variations, insertions/deletions, and splicing variants, were identified across these genes. Among the variants, nine, such as rs759499720 and rs776459296 in <em>ACE2</em>, rs386818798 in <em>TMPRSS2</em>, and rs759744926 in <em>IFNAR2</em>, were found to increase the risk of COVID-19. To further explore their impact, bioinformatics homology modeling was employed to assess how these genetic changes affect the three-dimensional (3D) structure of the associated proteins, revealing functional alterations that may contribute to disease severity. These findings suggest that variations in these genes may play a critical role in the pathogenesis of COVID-19, highlighting the importance of considering genetic factors in the development of targeted treatments and vaccines for better disease management.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102228"},"PeriodicalIF":1.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870567","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}