Phenomics (Cham, Switzerland)最新文献

{"title":"A Novel Heterozygous <i>IHH</i> c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.","authors":"Ting Zhu, Lijie Guan, Dan Chen, Yi Luo, Mianmian Zhu, Rongyue Sun, Jiamin Shi, Qiu Wang, Yuan Chen, Yihong Wang, Hongwei Wang, Zhongqiu Lu, Dan Wang","doi":"10.1007/s43657-024-00191-9","DOIUrl":"10.1007/s43657-024-00191-9","url":null,"abstract":"<p><p>Brachydactyly A1 (BDA1) is a rare disorder characterized by the disproportionate shortening of fingers and/or toes with or without symphalangism. Mutations in <i>Indian hedgehog signaling molecule</i> (<i>IHH</i>), which impair the effect of functional IHH protein derived from its precursor IHH, are commonly identified in patients with BDA1 or acrocapitofemoral dysplasia (ACFD). The ultrasound phenotype of fetuses with <i>IHH</i> mutations has rarely been described. To better understand the consequences of <i>IHH</i> mutation, we analyzed the characteristics of a Chinese fetus with BDA1 caused by a novel heterozygous <i>IHH</i> mutation. Clinical data and genomic DNA were collected from the proband and family members. Whole-exome sequencing (WES) was performed to identify potential causative mutations. Sequence analysis was performed to investigate the conservation of the affected leucine residue in IHH. Protein 3D modeling was performed to predict the effects of the mutation on protein structure. In vitro overexpression transfection experiments in human embryonic kidney 293T (HEK293T) cell lines were performed to evaluate the pathogenicity of the identified mutation. The fetal proband carried a novel heterozygous mutation in <i>IHH</i> (NM_002181.4: c.331_333delCTG, NP_002172.2: p.Leu111del) inherited from the father; this mutation manifested as shortening of the limbs, with more severe shortening observed in the proximal extremities than in the distal extremities, as evidenced by ultrasound. The Leu111 residue is highly conserved among vertebrates, and deletion of this residue destabilizes the protein structure. Western blotting analysis of HEK293T cells in overexpression transfection experiments revealed that the Leu111del mutation led to an increase in the level of the IHH precursor and a reduction in the level of functional IHH protein compared with those in HEK293T cells expressing wild-type IHH, indicating that this mutation might cause IHH protein dysmaturity. The novel heterozygous mutation c.331_333delCTG (p.Leu111del) in the <i>IHH</i> gene is the likely cause of BDA1 in this Chinese fetus. This mutation causes IHH protein maturation failure. These findings contribute to our understanding of the molecular pathogenesis of BDA1 and the clinical identification of fetal BDA1.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 2","pages":"123-136"},"PeriodicalIF":3.7,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improved prediction of swimming talent through random forest analysis of anthropometric and physiological phenotypes.","authors":"Cheng Liu, Bingxiang Xu, Kang Wan, Qin Sun, Ruwen Wang, Yue Feng, Hui Shao, Tiemin Liu, Ru Wang","doi":"10.1007/s43657-024-00176-8","DOIUrl":"10.1007/s43657-024-00176-8","url":null,"abstract":"<p><p>The field of competitive swimming lacks broadly applicable predictive models for talent identification across various age groups of adolescent swimmers. This study aimed to construct a predictive model for athletic talent using machine learning methods based on anthropometric and physiological data. Baseline data were collected from 5444 participants aged 10-18 in Shanghai, China, between 2015 and 2018, with 4969 completing a 3-year follow-up. Talents were discerned based on their performance over the follow-up period, revealing age- and sex- dependent developmental differences between swimmers classified as talented versus non-talented. After controlling for confounding variables, age and sex, nine machine learning algorithms were employed, with Random Forest achieving the highest performance and being selected as the final model. The model demonstrated excellent predictive performance on both the test dataset and an independent validation dataset from Shandong (<i>n</i> = 118), indicating its strong generalizability. Furthermore, using the SHapley Additive exPlanations (SHAP) method to interpret the model, abdominal skinfold, lung capacity, chest circumference, shoulder width, and triceps skinfold were identified as the five most critical indicators for talent identification.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00176-8.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 5","pages":"465-472"},"PeriodicalIF":3.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk Analysis of Atrial Fibrillation Based on ECG Phenotypes: The RAF-ECP Study Protocol.","authors":"Aiguo Wang, Jiacheng He, Xujian Feng, Jingchun Luo, Wei Chen, Yong Wei, Cuiwei Yang","doi":"10.1007/s43657-023-00151-9","DOIUrl":"10.1007/s43657-023-00151-9","url":null,"abstract":"<p><p>Atrial fibrillation (AF) is the most common supraventricular arrhythmia in clinical practice, and many patients exhibit silent AF. Variables based on Electrocardiogram (ECG) have shown promise in assessing AF risk in the previous study. This study protocol proposes a systematic approach, named RAF-ECP, to evaluate the role of ECG phenotypes in assessing the risk of AF. The protocol aims to standardize the definition and calculation of ECG phenotypes, ensuring consistency and comparability across different research studies and healthcare settings. Data will be collected from multiple clinical laboratories, with an anticipated sample size of 10,000 cases (lead I and II, 10 s) evenly distributed between subjects with and without AF events in one-year time frame. By analyzing ECG data and baseline information, statistical tests and machine learning classifiers will be employed to identify significant risk factors and develop a comprehensive risk assessment model for AF. The anticipated outcomes include hazard ratio values, confidence intervals, <i>p</i> values, as well as accuracy, sensitivity, and specificity measures. The study also discusses the clinical relevance and potential benefits of standardizing ECG phenotypes, emphasizing the need for collaboration between multiple centers to obtain diverse and representative datasets. The proposed RAF-ECP study protocol offers a novel and significant approach to understanding the impact of ECG phenotypes on AF risk assessment. Its integration of statistical analysis and machine learning techniques has the potential to advance AF research and contribute to the development of improved risk prediction models and clinical decision support tools.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"617-632"},"PeriodicalIF":3.7,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alterations of Sensory-related Functional Brain Network Connectivity in <i>Nrsn2</i> Homozygous Knockout Mice.","authors":"Yuan Yi, Fei Dai, Yuwen Zhang, Jiawei Han, Jialu Wei, Lingbo Wang, He Wang, Yu An","doi":"10.1007/s43657-024-00181-x","DOIUrl":"10.1007/s43657-024-00181-x","url":null,"abstract":"<p><p><i>Neurensin-2</i> (<i>Nrsn2</i>) is a neuro-specific gene linked to neurodevelopmental disorders and has recently been reported to function as a bidirectional emotional regulator, highlighting its molecular roles in the nervous system. However, the connections between <i>Nrsn2</i>, brain architecture, and functionality remain to be fully elucidated. Our study utilized 11.7 T multimodal magnetic resonance imaging (MRI) to assess the impact of <i>Nrsn2</i> gene knockout on the brain's microstructure, regional functional activity, and network connectivity during different developmental phases in mice. We observed significant changes in the functional brain network connectivity of <i>Nrsn2</i> ^-/- mice without marked differences in brain microstructure or regional activity. These changes were particularly pronounced in sensory-related areas, such as the gustatory and auditory systems, in both juvenile and adult specimens. Previous studies have correlated the enhanced Default Mode Network (DMN) with depression, and <i>Nrsn2</i> knockout has been associated with stress resilience. Our findings further revealed reduced connectivity in various DMN regions in adult <i>Nrsn2</i> ^-/- mice, suggesting a potential link to increased stress tolerance. Moreover, the sensory system's critical role in environmental perception implies that alterations in network connectivity due to <i>Nrsn2</i> knockout could affect the processing and integration of external inputs, thereby influencing emotional experiences.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00181-x.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 5","pages":"473-486"},"PeriodicalIF":3.7,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Organ Crosstalk: The Role of Spleen.","authors":"Yidan Gao, Shiwei Shen, Yongjun Wang, Mei Tian","doi":"10.1007/s43657-023-00147-5","DOIUrl":"10.1007/s43657-023-00147-5","url":null,"abstract":"<p><p>In modern medicine, spleen, the largest secondary lymphoid organ, is responsible for red blood cell turnover and immune inductions. The immune system and spleen actively orchestrate local or systemic inflammatory responses under different disease conditions. In traditional Chinese medicine (TCM), spleen contributes to the body integrity and the essence of \"Qi\"by collaborating in concert with the other organs (\"Zang\" in TCM). In both realms, spleen is not a solitary organ since it constantly interacts or \"crosstalks\" with the rest of the body to maintain homeostasis by secreting or responding to signaling molecules from relevant pathways. Since the spleen is involved in organ crosstalk axes, the health status of many other organs can be potentially alluded when we clinically assess the spleen. However, due to structural delicacy and intrinsic disadvantages of conventional pathology such as biopsy, evaluating the spleen status is challenging. To this end, molecular imaging, a non-invasive and efficient modality, emerged as an elegant solution to provide highly precise depiction of spleen phenotypes. It provides a mesoscopic overview of the spleen's physical status and biological processes occurring at the cellular or molecular level in vivo. With the application of molecular imaging modalities, spleen is now appreciated as a key organ involved in the development or progress of various diseases, such as cancer. We expect molecular imaging of the spleen to be a robust starting point for us to understand the molecular level changes underlying physiological observations including spleen crosstalk in TCM and modern medicine, providing mechanistic evidence for phenotypic patterns.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 2","pages":"192-207"},"PeriodicalIF":3.7,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Towards Risk Stratification in Clinical Care for IgA Nephropathy: Genetic Risk Scores: Comments on the Study \"Clinical Application of Polygenic Risk Score in IgA Nephropathy\".","authors":"Celine C Berthier, Wenjun Ju","doi":"10.1007/s43657-024-00184-8","DOIUrl":"10.1007/s43657-024-00184-8","url":null,"abstract":"","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 5","pages":"527-530"},"PeriodicalIF":3.7,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-Omics Exploration of Obesity Biomarkers in Sedentary and Weight Loss Cohorts.","authors":"Hui Wang, Yixiao Zhuang, Rong Hua, Ting Yao, Kaiqing Lin, Yitao Zhang, Rui Huang, Ruwen Wang, Shanshan Guo, Qiwei Shen, Yikai Shao, Wei Wu, Linling Fan, Yonghao Feng, Qiyuan Yao, Hongying Ye, Xingxing Kong, Qiongyue Zhang, Ru Wang, Tiemin Liu","doi":"10.1007/s43657-024-00165-x","DOIUrl":"10.1007/s43657-024-00165-x","url":null,"abstract":"<p><p>Sedentary behavior for two years during the coronavirus disease 2019 (COVID-19) pandemic contributes to weight gain. Gut microbiota and blood metabolome are related to body mass index (BMI) and indicate individual metabolic changes. Surgery and exercise are effective weight-loss methods. The precise plasma metabolites and gut microbiota biomarkers involved and the underlying mechanisms are still largely unclear. To address this issue, we analyzed weight gain and weight loss cohorts to identify biomarkers associated with obesity. In the sedentary cohort, 49 subjects were recruited in year 2019. After two years of sedentary behavior during the COVID-19 pandemic, the BMI of 24 subjects significantly increased (Weight gain group), while that of the remnant 25 subjects remained constant (Maintaining weight group). At baseline and two years post baseline, the gut microbiota and blood metabolome, as well as body composition and clinical indicators, were all collected. In weight loss studies, we analyze the plasma metabolome of the two cohorts, including individuals who underwent laparoscopic sleeve gastrectomy (LSG) surgery and exercise intervention. Weight gain through sedentary behavior contributed to the variation of the gut microbiota and plasma metabolites composition. Creatine, phenylalanine and tyrosine exhibited significant positive associations with BMI and fat mass. We further confirmed the association between BMI and plasma metabolites in two weight loss cohorts. By utilizing a linear regression model, we found that 10 metabolites including creatine were correlated with BMI in weight loss individuals. Based on receiver operating characteristic (ROC) curves, creatine exhibited a satisfactory classification performance in regard to predicting weight reduction (AUC_LSG = 0.890, AUC_S _ports = 0.840). Moreover, some gut microbiota, including <i>Bifidobacterium angulatum DSM 20098</i> = <i>JCM 7096</i> and <i>Rothia dentocariosa M567I</i> could affect BMI through the mediating factor of creatine.</p><p><strong>Graphical abstract: </strong></p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00165-x.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"5 2","pages":"137-153"},"PeriodicalIF":3.7,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cohort Profile: TRacing Etiology of Non-communicable Diseases (TREND): Rationale, Progress and Perspective.","authors":"Hui-Ying Ren, Ying Lv, Bei-Ning Ma, Chang Gao, Hong-Mei Yuan, Hai-Hong Meng, Zheng-Qian Cao, Ya-Ting Chen, Yan-Xi Zhang, Yu-Ting Zhang, Wei Liu, Yu-Ping Fan, Meng-Han Li, Yu-Xuan Wu, Zhuo-Yue Feng, Xin-Xin Zhang, Zhen-Jian Luo, Qiu-Yi Tang, Anke Wesselius, Jian Chen, Hong-Xing Luo, Qi-Rong Qin, Lianmin Chen, Evan Yi-Wen Yu","doi":"10.1007/s43657-024-00196-4","DOIUrl":"10.1007/s43657-024-00196-4","url":null,"abstract":"<p><p>The TRacing Etiology of Non-communicable Diseases (TREND) cohort is a prospective longitudinal cohort and biobank that is mainly based in Ma'anshan, Anhui Province, China. The primary aim of the study is to decipher comprehensive molecular characterization and deep phenotyping for a broad spectrum of chronic non-communicable diseases (NCDs), which focuses on providing mechanistic insights with diagnostic, prognostic and therapeutic implications. The recruitment was initiated in 2023 and is expected to complete in 2025 with 20,000 participants originated from urban and rural area. In the first phase, 3360 participants were recruited. Follow-up visits are scheduled annually and intervally for a total of 30 years. The cohort includes individuals aged over 18 years. Two participants with first-degree linkage were recruited from a household. The age distribution of recruited participants was stratified into four categories: 18-45, 45-55, 55-65, and ≥65 years, aligning with the population proportions of Ma'anshan. Meanwhile, the gender distribution was controlled by pairing men and women from the same household. Data collected at baseline includes socio-economic information, medical history, lifestyle and nutritional habits, anthropometrics, blood oxygen, electrocardiogram (ECG), heart sound, as well as blood, urine and feces tests results. Molecular profiling includes genome, proteome, metabolome, microbiome and extracellular vesicles -omics. Blood, urine and fecal samples are collected and stored at -80 °C in a storage facility for future research.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00196-4.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"584-591"},"PeriodicalIF":3.7,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome.","authors":"Rui Lin, Saihua Zheng, Haiyu Su, Guiying Wang, Xuelian Li, Chenqi Lu","doi":"10.1007/s43657-024-00183-9","DOIUrl":"10.1007/s43657-024-00183-9","url":null,"abstract":"<p><p>Polycystic ovarian syndrome (PCOS) is the most common reproductive metabolic disorder in women of reproductive age. However, the underlying mechanism is unclear, because the main symptoms vary with age and the pathogenesis is complex and multifactorial. In order to explore the gene expression and regulation networks, and identify potential biomarkers for diagnosis and treatment of PCOS, we conducted whole RNA sequencing of protein-coding genes, lncRNAs, and miRNAs in peripheral blood with case-control design. RNA sequencing and weighted gene co-expression network analysis (WGCNA) were performed on four pairs of PCOS cases and control peripheral blood samples. The results showed that there were significant differences in the expression levels of 341 mRNAs, 252 lncRNAs and 47 miRNAs between PCOS patients and control groups. Bioinformatics analysis showed that these differentially expressed genes (DEGs) were mainly involved in the metabolic, immune, endocrine, and nervous systems, and also identified potential WGCNA module related with PCOS. The DEGs of PCOS as reported in other published literatures were used to verify our DEGs in this study. These results suggest that the ceRNA regulatory relationship between <i>miR-17-5p</i>, <i>LINC02213</i> and <i>FCGR1A</i>, the <i>trans</i>-regulatory relationship between <i>RP11-405F3.4</i>:<i>IL1R1</i> and <i>RP11-405F3.4</i>:<i>IL27</i>, and a hub lncRNA of <i>LINC02649</i> in core regulatory network, which have significant potential for PCOS research. We constructed the core WGCNA module of PCOS from the whole transcriptome of human peripheral blood and characterized the key gene characteristics of PCOS. These findings provide key insights into the candidate characteristics and mechanism elucidation of PCOS.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00183-9.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 6","pages":"570-583"},"PeriodicalIF":3.7,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Significance of <i>Methyl-CpG Binding Domain4</i> Polymorphism rs140693 and Clinical Characteristics in Chinese Lung Cancer Patients.","authors":"Zhengxing Li, Yuewen Hu, Chang Xu, Zixiu Zou, Zhenyu Sun, Zhunyi Gao, Man Xiao, Shicheng Guo, Yi Wang, Haijian Wang, Zhiping Wang, Qiang Li, Bo Shen, Yuanlin Song, Junjie Wu","doi":"10.1007/s43657-024-00171-z","DOIUrl":"10.1007/s43657-024-00171-z","url":null,"abstract":"<p><p>Lung cancer remains the leading cause of death among cancer patients, and the five-year survival rate is less than 25%. However, <i>Methyl-CpG Binding Domain</i> (<i>MBD</i>)<i>4</i> polymorphism rs140693 predicts the prognosis of lung cancer patients still needs further verification. Primary lung cancer patients (<i>n</i> = 839) were collected from two hospitals, genomic DNA was extracted from blood, and genotyping was performed using SNPcan technology. Kaplan-Meier technique and multivariate Cox proportional hazards model were used to analyze the prognosis association between <i>MBD4</i> and clinical characteristics. Significantly conferred a poorer prognosis was associated with the CT genotype (CT vs. CC; adjusted hazard ratio [HR] = 1.21, 95% CI: 1.03-1.43, <i>p</i> = 0.023) and dominant CT + TT genotype (CT + TT vs. CC; HR = 1.19, 95% CI: 1.02-1.39, <i>p</i> = 0.029) of <i>MBD4</i> polymorphism rs140693 for all lung cancer patients, compared with the CC genotype. Stratified analysis showed that polymorphism rs140693 CT and dominant CT + TT genotype conferred a significantly poorer prognosis in female and lung adenocarcinoma (ADC) cancer patients, compared with the CC genotype. Non-small cell lung cancer (NSCLC) patients with the CT genotype had a poorer prognosis than those with the CC genotype. Additionally, the allele T of small cell lung cancer (SCLC) patients compared with the allele C was associated with a poor prognosis, and the CT and recessive TT genotype of SCLC patients conferred a significantly poor prognosis. The <i>MBD4</i> polymorphism rs140693 is a significant prognostic genetic marker for predicting the prognosis of lung cancer patients.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s43657-024-00171-z.</p>","PeriodicalId":74435,"journal":{"name":"Phenomics (Cham, Switzerland)","volume":"4 5","pages":"453-464"},"PeriodicalIF":3.7,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}