Genetics research最新文献

{"title":"STOML2 Alleviates Osteoarthritis by Regulating Mitochondrial Energy Metabolism and Oxidative Stress.","authors":"Fei Xie, Kun Miao, Hao Wu, Xuejun Wu","doi":"10.1155/genr/9303825","DOIUrl":"10.1155/genr/9303825","url":null,"abstract":"<p><p>Osteoarthritis (OA) is associated with chondrocyte dysfunction and cartilage degeneration, but how mitochondrial homeostasis is maintained during OA progression remains incompletely understood. Here, we show that Stomatin-like protein 2 (STOML2) is downregulated in IL-1β-stimulated chondrocytes and in human OA cartilage. STOML2 depletion impairs oxidative phosphorylation, elevates mitochondrial reactive oxygen species, and promotes chondrocyte senescence and ferroptotic cell death. Mechanistically, STOML2 interacts with the mitochondrial Na⁺/Ca²⁺ exchanger (NCLX) to support mitochondrial Ca²⁺ efflux and metabolic stability. Restoring STOML2 enhances NCLX-dependent Ca²⁺ handling, mitigates mitochondrial Ca²⁺ overload and the glycolytic shift, and improves ATP production. In a rat OA model, intra-articular delivery of STOML2 attenuates cartilage degeneration and reduces inflammatory changes in the joint. Together, these findings identify a STOML2-NCLX axis that safeguards mitochondrial Ca²⁺ homeostasis and chondrocyte viability, suggesting STOML2 as a potential therapeutic target for OA.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2026 1","pages":"e9303825"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13088865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147698705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to \"BRCA1 Exon 11 Mutations in Breast Cancer: A Study From Pakistan\".","authors":"","doi":"10.1155/genr/9873852","DOIUrl":"10.1155/genr/9873852","url":null,"abstract":"","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2026 1","pages":"e9873852"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13140306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147432573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.","authors":"Muhammad Waleed Iqbal, Muhammad Shahab, Fakhreldeen Dabiellil, Yousef A Bin Jardan, Mohammed Bourhia, Xinxiao Sun, Qipeng Yuan","doi":"10.1155/genr/6682668","DOIUrl":"https://doi.org/10.1155/genr/6682668","url":null,"abstract":"<p><p>Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a potentially lethal metabolic disorder, is often associated with single-nucleotide polymorphisms (SNPs) in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene. The current research investigates the structural and functional implications of these genetic variants through diverse bioinformatics techniques. A range of in silico techniques were utilized to thoroughly evaluate the effect of nonsynonymous SNPs. Molecular docking and molecular dynamics simulation evaluation comprehensively validated the mutational impact on protein's stability. Gene interaction analysis demonstrated that ACADM is involved in several cellular pathways and co-expression networks. Two nsSNPs, rs121434282 and rs200724875, were found to have a significant impact on the composition and functionality of ACADM. This research lays the foundation for precision medicine advancements, specifically against metabolic disorders. Thorough validation of the proposed nsSNPs, supported by animal models, is crucial for understanding their role in MCADD.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2026 1","pages":"e6682668"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147432631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.","authors":"Haolang Zhao, Sidi Zhang, Haoyun Zhu, Zhonglin Jia","doi":"10.1155/genr/3754674","DOIUrl":"10.1155/genr/3754674","url":null,"abstract":"<p><p>Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of etiological research. This review summarizes key findings in the identification of NSOC susceptibility genes and loci across successive stages of sequencing technology development. With the evolution of sequencing approaches, from Sanger sequencing to next-generation sequencing (NGS) and third-generation sequencing (TGS), and more recently to emerging technologies including epigenomics, single-cell sequencing, spatial omics, and multiomics integration, the field of NSOC genetics has undergone a transformative shift from low-throughput to high-throughput analyses. These advancements have enabled progress from the identification of common, classical susceptibility genes to the discovery of de novo mutations, rare variants, complex genomic structural variations, and the elucidation of cell differentiation trajectories. These advances have substantially enhanced our multidimensional understanding of the genetic heterogeneity underlying NSOC and reflect a broader transition in research focus from susceptibility mapping to mechanistic elucidation. Future studies should continuously promote methodological innovations in sequencing technologies, optimize study design, and explore integrative multiomics approaches to refine ethnicity- and subtype-specific genetic databases. Accelerating the translation of basic research findings into clinical applications will provide a solid foundation for early disease screening, genetic counseling, and precision prevention.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2026 1","pages":"e3754674"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13101648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"EMP3 Expression in HER2-Enriched Breast Cancer is Linked to PI3K/AKT Signaling and Indicates Poor Prognosis.","authors":"Mingda Zhu, Chenyang Tian, Ninine Marthe Nkenfag, Niannian Wang, Weiping Yu","doi":"10.1155/genr/8242640","DOIUrl":"10.1155/genr/8242640","url":null,"abstract":"<p><strong>Purpose: </strong>EMP3 is closely associated with HER2 expression and trastuzumab resistance. However, the prognostic value of EMP3 in the HER2 subtype remains poorly understood. It is necessary to clarify the relationship between EMP3 and prognosis in HER2-enriched breast cancer.</p><p><strong>Methods: </strong>The expression of EMP3 was measured using immunohistochemistry staining. Then, Chi-square tests were carried out to investigate the relationship between EMP3 and relevant clinical data. After that, univariable and multivariable Cox regression were used to filter out factors with independent prognostic value, while a nomogram was constructed to forecast the disease-free survival (DFS) rates of patients. Subsequently, we employed R to identify genes exhibiting a correlation coefficient exceeding 0.6 with EMP3 expression and then mapped such genes onto the PI3K-AKT pathway through the KEGG database. Patients were then stratified into two subgroups based on the median EMP3 expression, and differential expression status of the PI3K-AKT pathway between the groups was analyzed. The proliferation capacity under trastuzumab treatment was detected through plate colony formation and EdU incorporation assays in cells with different EMP3 expression levels. Nude mouse xenograft tumor formation experiments were employed to further verify the connection between EMP3 expression and trastuzumab resistance.</p><p><strong>Results: </strong>A total of 90 HER2-enriched breast cancer patients were enrolled in this research. EMP3 expression did not exhibit any significant association with age, menopausal status, T-stage, N-stage, androgen receptor, Ki67, EGFR, or CK5/6. Results from univariate and multivariate Cox regression analysis confirmed that EMP3 expression, T-stage, and N-stage served as independent prognostic factors for DFS. The prognostic model constructed based on EMP3 expression, T-stage, and N-stage has good predictive power. The model's C-index was measured to be 0.745. The calibration curves of the model largely coincided with the diagonal line, suggesting that the actual DFS of patients was almost the same as the DFS predicted by the model. The genes positively associated with EMP3 expression status bear a close association with the PI3K-AKT pathway among HER2-enriched breast cancers. Enhanced activation of the PI3K-AKT pathway was detected in the EMP3 high-expression group. Results derived from both in vitro and in vivo experiments demonstrate that EMP3 regulates the PI3K/AKT pathway and promotes resistance to trastuzumab.</p><p><strong>Conclusions: </strong>High EMP3 expression in HER2-enriched breast cancer predicts poor patient outcomes. Overexpression of EMP3 exerts an upregulatory effect on the PI3K-AKT pathway and boosts the development of trastuzumab resistance.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2026 1","pages":"e8242640"},"PeriodicalIF":2.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13100895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147769703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Onset High Myopia and Severe Anisometropia Associated With Familial Exudative Vitreoretinopathy of Irregular Dominant Inheritance in 11 Chinese Families: Analysis of Refraction Features and Pathogenic Variations.","authors":"Wan-Yu Cheng, Wei-Ning Rong, Hui-Ping Li, Xiao-Guang Wang, Rui Qi, Xiao-Long Qi, Xun-Lun Sheng, Wei Chi","doi":"10.1155/genr/9963550","DOIUrl":"10.1155/genr/9963550","url":null,"abstract":"<p><strong>Purpose: </strong>The genetic spectrum and early clinical indicators of familial exudative vitreoretinopathy (FEVR) remain incompletely defined, and few studies have investigated the genetic variants and clinical phenotypes associated with eoHM-FEVR and anisometropia-FEVR patients. The purpose of this study was to screen the pathogenic variations in 11 FEVR families and analyze the refractive status and pathogenic genes in patients with irregular dominantly inherited FEVR.</p><p><strong>Methods: </strong>The patients with clinical diagnoses of eoHM-FEVR or anisometropia-FEVR were evaluated from October 2019 to August 2022. Comprehensive ophthalmic tests were performed on participants to confirm the phenotype. The genotype was identified using whole-exon sequencing and further verified the results among other family members by Sanger sequencing. Normal protein structures were modeled with AlphaFold, whereas mutant variants were analyzed via PyMOL. Variant pathogenicity followed the American College of Medical Genetics and Genomics (ACMG) guidelines. The protein-protein interaction (PPI) network analysis with STRING and <i>k</i>-means clustering was applied for detecting the interaction of genes in the candidate genes, and the ClusPro Server was used for protein-protein docking.</p><p><strong>Results: </strong>A total of 11 FEVR families were included in the study, and all the probands were found to have high myopia in both eyes or one eye before the age of 7 years. The pathogenic variants were identified in the genes <i>TSPAN12</i>, <i>LRP5</i>, and <i>FZD4</i> known to be associated with FEVR in six probands. Among 13 eoHM-related genes, <i>FZD4</i> and <i>LRP2</i> encode proteins that can dock together as analyzed by ClusPro software.</p><p><strong>Conclusion: </strong>This study observed dominant inheritance of an irregular pattern in FEVR families, with asymmetric FEVR presenting as severe anisometropia. The eye with higher myopia often had more advanced FEVR and pronounced fundus changes. PPI network analysis revealed important modules of gene interaction, and the FZD4-LRP2 complex protein was potentially related to high myopia development. For patients with high myopia or with obvious anisometropia in both eyes, more attention should be paid clinically to the comprehensive examination of the peripheral fundus and early genetic testing.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"9963550"},"PeriodicalIF":2.1,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12748083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145877880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lifestyle Modify Optic Nerve Injury in Mendelian Randomization.","authors":"Maobin Zhou, Yanyu Shangguan, Xiaodong Liu","doi":"10.1155/genr/6698323","DOIUrl":"10.1155/genr/6698323","url":null,"abstract":"<p><strong>Background: </strong>Optic nerve injury, as a neurodegenerative disorder, leads to irreversible visual impairment. Although the underlying mechanisms linking physical activity to optic nerve injury remain unclear, this study aimed to establish a causal relationship between physical activity and optic nerve injury using a Mendelian randomization (MR) framework.</p><p><strong>Methods: </strong>This MR study utilized genome-wide significant variants as instrumental variables (IVs) for assessing the relationship between physical activity and optic nerve injury, focusing on individuals of European descent. The approach was supported by comprehensive sensitivity analyses and augmented by bioinformatics tools including differential gene expression, Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses.</p><p><strong>Results: </strong>Our study demonstrated that after adjustment for MVPA, alcohol intake, BMI, blood glucose, blood lipids, and smoking, LST was positively associated with glaucoma risk (<i>β</i> = 0.016, 95% CI: 0.004 to 0.027, <i>p</i> = 0.014), indicating its role as an independent risk factor. Conversely, MVPA was negatively associated with glaucoma risk (<i>β</i> = -0.012, 95% CI: -0.022 to -0.002, <i>p</i> = 0.026), supporting a protective effect, while smoking also showed a significant association (<i>β</i> = -0.020, 95% CI: -0.039 to -0.002, <i>p</i> = 0.037). Sensitivity analyses confirmed the robustness of these findings, and bioinformatic analyses implicated cholesterol metabolism and fibrosis pathways in optic nerve injury.</p><p><strong>Conclusion: </strong>These findings underscore the potential of lifestyle modifications, including increased physical activity and reduced sedentary behavior, as a cost-effective strategy to prevent and manage optic nerve injury.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"6698323"},"PeriodicalIF":2.1,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12740456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145849895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Truncating Variant in the <i>ERCC6</i> Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.","authors":"Mehdi Khorrami, Erfan Khorram, Mohammad Amin Tabatabaiefar, Omid Yaghini, Omid Iravani, Aida Kheirollahi, Majid Kheirollahi, Vida Yazdani, Mitra Pakbaz","doi":"10.1155/genr/7396691","DOIUrl":"10.1155/genr/7396691","url":null,"abstract":"<p><strong>Background: </strong>Cockayne syndrome (CS) is a rare, autosomal-recessive, multisystem disorder characterized by microcephaly, failure to thrive, photosensitivity, leukodystrophy, muscle contracture, and intellectual disability. It is caused by deleterious variant in the <i>ERCC6</i> and <i>ERCC8</i> genes, which are involved in the transcription-coupled nucleotide excision repair system. According to severity and age of onset, CS is categorized into four types: I, II, III, and cerebrooculofacioskeletal syndrome (COFS). However, some researchers consider COFS to be a distinct disease from CS, while others describe COFS as a severe form of CS.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) and Sanger sequencing were used to identify potential pathogenic causative variant.</p><p><strong>Results: </strong>WES data analysis revealed a nonsense variant (NM_000124: c.3862C>T, p.R1288X) in the <i>ERCC6</i> gene, which was co-segregated using Sanger sequencing. Although this variant has been reported previously in association with both CS and COFS separately, this study's patient manifested intermediate symptoms.</p><p><strong>Conclusion: </strong>This study's findings expand the clinical spectrum of the variant (NM_000124: c.3862C>T, p.R1288X) and provide more supporting evidence that CS and COFS are phenotypic spectrums rather than different clinical conditions in which genetic and epigenetic factors probably play a pivotal role in the severity of symptoms.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"7396691"},"PeriodicalIF":2.1,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12740455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145849823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a Multilayered Prognostic Model for Wilms' Tumor Based on Characteristic Lymphocyte Genes.","authors":"Zexi Li, Jing Liu, Yurui Wu","doi":"10.1155/genr/1964582","DOIUrl":"10.1155/genr/1964582","url":null,"abstract":"<p><strong>Objective: </strong>To develop a prognostic nomogram for Wilms' tumor (WT) integrating genetic and clinical factors to improve evaluation accuracy and clinical utility.</p><p><strong>Methods: </strong>RNA sequencing (RNA-seq) data from 125 WT patients and single-cell RNA (scRNA-seq) data from 2437 samples were analyzed using bioinformatics tools for data processing, including normalization and scaling with SCTransform, and cell clustering with Seurat. Principal component analysis (PCA) and Uniform Manifold Approximation and Projection (UMAP) were utilized for data visualization. Differential gene expression analysis identified pivotal genes for the Genetic Feature Prognostic Model for WT (GPM-WT). Univariate Cox regression analysis refined this model by incorporating clinical prognostic indicators. Survival analysis, Cox regression, and ROC curve assessments evaluated these models' prognostic capabilities. Immune cell infiltration and drug sensitivity were quantified, linking these to patient risk categories.</p><p><strong>Results: </strong>Six prognostic lymphocyte genes (<i>KLRC1</i>, <i>APOC2</i>, <i>GBP2</i>, <i>SLA</i>, <i>MLLT3</i>, and <i>SIGLEC5</i>) were identified for GPM-WT. Clinical factors, age and sex, were integrated to refine the model. The Lymphocyte Gene and Clinical Features Prognostic Nomogram (LGCPN-WT) effectively distinguished high from low-risk groups, predicting 2-5-year survival rates with area under the curve (AUC) values of 0.771, 0.774, 0.751, and 0.785. Elevated immune cell infiltration and enhanced drug sensitivity characterized the high-risk group, exhibiting significant responsiveness to chemotherapy, targeted, and immunotherapy treatments (<i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>The study developed an integrated LGCPN-WT model, significantly enhancing survival prediction accuracy and clinical utility for WT, thus supporting personalized treatment approaches.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"1964582"},"PeriodicalIF":2.1,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Common Genetic Variants in <i>TRIO</i> Are Associated With Autism in Chinese Han Population.","authors":"Han Shen, Xiaoxuan Sun, Ziqi Wang, Miaomiao Jiang, Jinxin Wang, Tianlan Lu, Weihua Yue, Dai Zhang, Lifang Wang, Jun Li","doi":"10.1155/genr/7762302","DOIUrl":"10.1155/genr/7762302","url":null,"abstract":"<p><p>Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability. Nevertheless, the involvement of genetic variants in ASDs is not fully understood. One gene of interest is <i>TRIO</i>, which encodes a large protein that aids in GDP-to-GTP exchange as a Ras homologous (Rho) guanine nucleotide exchange factor (GEF), facilitating cytoskeleton reorganization. Thus, it plays crucial roles in neuronal migration, neurite outgrowth, and synaptic transmission. <i>De novo</i> mutations in <i>TRIO</i> have been extensively reported in the pathogenesis of ASDs. However, no evidence currently supports the genetic association between common variants in <i>TRIO</i> and ASDs. To investigate the role of common genetic variations in autism risk, we analyzed 12 tagging single-nucleotide polymorphisms (SNPs) in the <i>TRIO</i> gene. These tagging SNPs captured an average of 75% of all common variations in <i>TRIO</i> with a minor allele frequency (MAF) > 5%. Using the family-based association study in 239 Chinese Han autism trios, we identified the significant association of three SNPs (rs32593, rs33005, and rs27479) with autism. To confirm the association, the sample size was expanded to 427 trios by recruiting 188 additional trios. Our findings across all 427 trios confirmed that A allele of rs32593, G allele of rs33005, and C allele of rs27479 showed a preferential transmission to the affected offspring (rs32593: A > G, Z = 2.600, <i>p</i> = 0.0093; rs33005: G > T, Z = 2.978, <i>p</i> = 0.0029; rs27479: C > A, Z = 3.214, <i>p</i> = 0.0013) after Bonferroni's correction (<i>p</i> < 0.0042). Haplotype analyses showed that one haplotype (A-G) constructed from rs32593 and rs33005 was significantly associated with autism (<i>p</i> = 0.0064; Global <i>p</i> = 0.022). These results suggested that the common variants in <i>TRIO</i> might be involved in the susceptibility to autism in the Chinese Han population.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2025 ","pages":"7762302"},"PeriodicalIF":2.1,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12721762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}