Human Genomics最新文献

{"title":"Tapping natures rhythm: the role of season in mitochondrial function and genetics in the UK biobank.","authors":"Anastasios Papadam, Mihail Mihov, Adriana Koller, Hansi Weissensteiner, Klaus Stark, Felix Grassmann","doi":"10.1186/s40246-025-00743-8","DOIUrl":"10.1186/s40246-025-00743-8","url":null,"abstract":"<p><strong>Background: </strong>Mitochondria are small organelles inside our cells crucial for producing energy and heat, cell signaling, production and degradation of important molecules, as well as cell death. The number of mitochondria in each cell is a marker for mitochondrial function, which generally declines with increasing age. However, we found that there is also a considerable seasonal variation of mitochondrial abundance, which warrants further research.</p><p><strong>Methods: </strong>We leveraged data from individuals participating in the UK Biobank study and computed their mitochondrial abundance from Exome sequencing reads mapping to the mitochondrial genome. The seasonal effect was modelled as a sine-cosine function across the year and changes in amplitude, acrophase and displacement of mitochondrial abundance due to various demographic, lifestyle, genetic, proteomic, and metabolomic markers were investigated with multivariate regression.</p><p><strong>Results: </strong>We found that mitochondrial DNA (mtDNA) abundance was higher in winter than in summer. This difference is related to advanced age, a higher BMI and smoking behavior which resulted in a reduced amplitude of mtDNA abundance. A higher education reduced the acrophase (i.e., shifted the distribution to earlier in the year) and a higher BMI and lack of physical activity led to a later acrophase. Generally, increased immune cell count resulted in lower amplitude, and an increased platelet and lymphocyte count was found to increase the acrophase. Importantly, a reduced seasonal amplitude was associated with increased risk for cardiovascular, digestive, genitourinary, and respiratory diseases as well as all-cause mortality. Most of the metabolomic and proteomic markers were associated with mtDNA displacement (i.e., increase of the baseline level) but not acrophase or amplitude. Similarly, we found that there are multiple genetic variants influencing displacement, but none reached genome-wide significance when investigating acrophase or amplitude.</p><p><strong>Conclusion: </strong>Seasonal variation of mtDNA abundance is influenced by environmental, lifestyle and immune parameters. Differences in the seasonal oscillation of mitochondrial abundance could potentially explain discrepancies of previous associations results and might be useful to improve future risk prediction.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"34"},"PeriodicalIF":3.8,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Displacement of distant regulatory elements of FOXC1 as a potential human disease mechanism.","authors":"Jesús-José Ferre-Fernández, Linda M Reis, Elena V Semina","doi":"10.1186/s40246-025-00735-8","DOIUrl":"10.1186/s40246-025-00735-8","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"33"},"PeriodicalIF":3.8,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.","authors":"Qi-Wen Wang, Wen-Bin Zou, Emmanuelle Masson, Claude Férec, Zhuan Liao, Jian-Min Chen","doi":"10.1186/s40246-025-00740-x","DOIUrl":"10.1186/s40246-025-00740-x","url":null,"abstract":"<p><p>Serine peptidase inhibitor, Kazal type 1 (SPINK1), a 56-amino-acid protein in its mature form, was among the first pancreatic enzymes to be extensively characterized biochemically and functionally. Synthesized primarily in pancreatic acinar cells and traditionally known as pancreatic secretory trypsin inhibitor, SPINK1 protects the pancreas by inhibiting prematurely activated trypsin. Since 2000, interest in SPINK1 has resurged following the discovery of genetic variants linked to chronic pancreatitis (CP). This review provides a historical overview of SPINK1's discovery, function, and gene structure before examining key genetic findings. We highlight three variants with well-characterized pathogenic mechanisms: c.-4141G > T, a causative enhancer variant linked to the extensively studied p.Asn34Ser (c.101A > G), which disrupts a PTF1L-binding site within an evolutionarily conserved HNF1A-PTF1L cis-regulatory module; c.194 + 2T > C, a canonical 5' splice site GT > GC variant that retains 10% of wild-type transcript production; and an Alu insertion in the 3'-untranslated region, which causes complete loss of function by forming extended double-stranded RNA structures with pre-existing Alu elements in deep intronic regions. We emphasize the integration of a full-length gene splicing assay (FLGSA) with SpliceAI's predictive capabilities, establishing SPINK1 the first disease gene for which the splicing impact of all possible coding variants was prospectively determined. Findings from both mouse models and genetic association studies support the sentinel acute pancreatitis event (SAPE) model, which explains the progression from acute pancreatitis to CP. Additionally, SPINK1 variants may contribute to an increased risk of pancreatic ductal adenocarcinoma (PDAC). Finally, we discuss the therapeutic potential of SPINK1, particularly through adeno-associated virus type 8 (AAV8)-mediated overexpression of SPINK1 as a strategy for treating and preventing pancreatitis, and highlight key areas for future research.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"32"},"PeriodicalIF":3.8,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic risk factors associated with ocular perfusion pressure in primary open-angle glaucoma.","authors":"Heejin Jin, Je Hyun Seo, Young Lee, Sungho Won","doi":"10.1186/s40246-025-00738-5","DOIUrl":"10.1186/s40246-025-00738-5","url":null,"abstract":"<p><strong>Background: </strong>Primary open-angle glaucoma (POAG) is the leading cause of irreversible vision loss. However, its genetic risk factors, such as the vascular hypothesis of POAG, remain unclear. Here, we aimed to explore the genetic associations between mean ocular perfusion pressure (MOPP) and POAG. We performed genome-wide analysis with gene-based analysis from the UK Biobank (N = 459,195), which includes genetic data and ocular phenotypes. Bidirectional two-sample Mendelian randomisation (MR), multivariable MR, and mediation analysis were conducted using summary statistics from a previous meta-analysis of genome-wide association studies (N = 216,257).</p><p><strong>Results: </strong>CEP85L, GRIA4, GRIN2A, LRFN5, MAGI1, POU6F2, RBFOX1, RBMS1, RBMS3, RBPMS, TRHDE, TUBB3, ZFHX3, and ZMAT4 were significantly correlated with various ocular phenotypes. Furthermore, POAG shared strong genetic associations with corneal resistance factor (CRF), intraocular pressure (IOP), refractive error (RE), and MOPP but none with corneal hysteresis (CH). Univariable MR showed a negative causal effect of CH, CRF, and MOPP and a positive causal effect of IOP on POAG occurrence. In multivariable MR, MOPP exhibited a direct causal effect on POAG, which was supported by the mediation analysis results.</p><p><strong>Conclusions: </strong>We successfully determined 14 genetic loci related to CH, CRF, IOP, RE, and MOPP. In univariable and multivaribale MR analyses, a causal effect of MOPP on POAG were observed. In addition, the mediation analysis supported that MOPP exerted direct and indirect causal effects on POAG. This finding indicates that MOPP may serve as a potential causal factor in POAG, providing valuable insights into the pathophysiology of POAG as vascular theory.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"31"},"PeriodicalIF":3.8,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11934579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment and validation of a DIP panel for forensic ancestry inference and personal identification.","authors":"Shuanglin Li, Shuyan Mei, Yanfang Liu, Wei Cui, Bofeng Zhu","doi":"10.1186/s40246-025-00727-8","DOIUrl":"10.1186/s40246-025-00727-8","url":null,"abstract":"<p><strong>Background: </strong>Biallelic Deletion/Insertion polymorphisms (DIPs), known for their significant diversity across various populations, serve as valuable markers for forensic ancestry inference and personal identification. In this study, we utilized DIPs to provide a potentially powerful forensic examination tool specifically tailored for East Asian populations. Our focus on ancestry allows us to delve deeper into the genetic signatures that characterize this diverse group, offering enhanced resolution in forensic analyses.</p><p><strong>Methods: </strong>A total of 56 autosomal DIPs, 3 Y-chromosome DIPs, and the Amelogenin were selected to build the 60-panel. Population genetic parameters, principal component analysis (PCA), STRUCTURE analysis, and phylogenetic tree construction were employed to evaluate the capacity for ancestry inference. The verification guidelines recommended by the Scientific Working Group on DNA Analysis Methods were followed in the developmental validations of the 60-panel.</p><p><strong>Results: </strong>The PCA, STRUCTURE, and phylogenetic tree constructions were not only consistent with each other but also corroborated by previous research. The combined probability of discrimination and the cumulative probability of paternity exclusion values were 0.999999999999 and 0.9937, respectively. These values indicate that the 60-panel is not only a useful tool for personal identification testing within the East Asian population but also provides valuable biogeographic information. Furthermore, the validation study of the 60-panel, which included assessments of PCR conditions, sensitivity, species specificity, stability, mixture analysis, reproducibility, and case sample studies, as well as analysis of degraded samples, demonstrated that the panel is well-suited for forensic testing. The panel's performance was particularly notable in the analysis of degraded samples, showcasing its potential for use in challenging forensic cases.</p><p><strong>Conclusion: </strong>The newly developed 60-panel demonstrated robust performance in validation tests, yielding reliable genotypes even from poor-quality samples like degraded DNA. It offers valuable biogeographic insights and sufficient polymorphism for personal identification, which assisted forensic examinations in East Asian populations.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"30"},"PeriodicalIF":3.8,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11927128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying behavior regulatory leverage over mental disorders transcriptomic network hubs toward lifestyle-dependent psychiatric drugs repurposing.","authors":"Mennatullah Abdelzaher Turky, Ibrahim Youssef, Azza El Amir","doi":"10.1186/s40246-025-00733-w","DOIUrl":"10.1186/s40246-025-00733-w","url":null,"abstract":"<p><strong>Background: </strong>There is a vast prevalence of mental disorders, but patient responses to psychiatric medication fluctuate. As food choices and daily habits play a fundamental role in this fluctuation, integrating machine learning with network medicine can provide valuable insights into disease systems and the regulatory leverage of lifestyle in mental health.</p><p><strong>Methods: </strong>This study analyzed coexpression network modules of MDD and PTSD blood transcriptomic profile using modularity optimization method, the first runner-up of Disease Module Identification DREAM challenge. The top disease genes of both MDD and PTSD modules were detected using random forest model. Afterward, the regulatory signature of two predominant habitual phenotypes, diet-induced obesity and smoking, were identified. These transcription/translation regulating factors (TRFs) signals were transduced toward the two disorders' disease genes. A bipartite network of drugs that target the TRFS together with PTSD or MDD hubs was constructed.</p><p><strong>Results: </strong>The research revealed one MDD hub, the CENPJ, which is known to influence intellectual ability. This observation paves the way for additional investigations into the potential of CENPJ as a novel target for MDD therapeutic agents development. Additionally, most of the predicted PTSD hubs were associated with multiple carcinomas, of which the most notable was SHCBP1. SHCBP1 is a known risk factor for glioma, suggesting the importance of continuous monitoring of patients with PTSD to mitigate potential cancer comorbidities. The signaling network illustrated that two PTSD and three MDD biomarkers were co-regulated by habitual phenotype TRFs. 6-Prenylnaringenin and Aflibercept were identified as potential candidates for targeting the MDD and PTSD hubs: ATP6V0A1 and PIGF. However, habitual phenotype TRFs have no leverage over ATP6V0A1 and PIGF.</p><p><strong>Conclusion: </strong>Combining machine learning and network biology succeeded in revealing biomarkers for two notoriously spreading disorders, MDD and PTSD. This approach offers a non-invasive diagnostic pipeline and identifies potential drug targets that could be repurposed under further investigation. These findings contribute to our understanding of the complex interplay between mental disorders, daily habits, and psychiatric interventions, thereby facilitating more targeted and personalized treatment strategies.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"29"},"PeriodicalIF":3.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serine/threonine kinase 11 (STK11) associated adnexal tumors: from biology to therapeutic impact.","authors":"Guanxiang Huang, Wenyu Lin, Tingting Jiang, Yuanjun Cai, Chengbin Lin, Pengming Sun","doi":"10.1186/s40246-025-00741-w","DOIUrl":"10.1186/s40246-025-00741-w","url":null,"abstract":"<p><p>Female adnexal malignancies, while relatively uncommon, exhibit high mortality rates due to often-late diagnosis. The serine/threonine kinase 11 (STK11) is a tumor suppressor gene, and its inactivation or mutation often leads to an autosomal dominant genetic disorder known as Peutz-Jeghers syndrome (PJS), which is associated with ovarian and cervical cancers. STK11-associated adnexal tumors mostly originate from the ovary, with a low incidence rate but high metastasis rates worldwide. In addition to surgery and chemotherapy, it is necessary to optimize relevant screening policy and targeted therapy. STK11-associated adnexal tumors are difficult to diagnose by histopathology. Although genetic testing involves higher costs, it can serve as a primary preventive measure for high-risk populations with STK11-associated tumors. A more intensive screening program (MISP) is needed for individuals with significant clinical symptoms and a family history of PJS. These tumors may be adequately treated with fertility-sparing surgery in young women with lower malignant potential tumors. Prophylactic adnexectomy, chemotherapy, and immunotherapy may offer potential clinical benefits but also pose significant challenges. Therefore, surgery should be undertaken with careful and comprehensive consideration of the patient's age, reproductive history, risk of malignancy, genetic mutation lineages, post-operative complications, and other conditions. Further research is essential to develop better screening, diagnostic, and treatment strategies.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"28"},"PeriodicalIF":3.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic profiling of Cell-free DNA fragmentation uncovers postprandial metabolic and immune alterations.","authors":"Ziting Zhu, Tao Chen, Manting Zhang, Xiaodi Shi, Pan Yu, Jianai Liu, Xiuzhi Duan, Zhihua Tao, Xuchu Wang","doi":"10.1186/s40246-025-00739-4","DOIUrl":"10.1186/s40246-025-00739-4","url":null,"abstract":"<p><strong>Background: </strong>Food intake affects body homeostasis and significantly changes circulating cell-free DNA (cfDNA). However, the source and elimination of postprandial cfDNA is difficult to trace, and it is unknown whether these changes can be revealed by cfDNA fragmentomics based on liquid biopsy.</p><p><strong>Methods: </strong>We performed shallow whole-genome sequencing of 30 plasma samples from 10 healthy individuals at fasting and postprandial (30-min and 2-h time points). We assessed the effect of postprandial states on cfDNA fragment size distribution and utilized deconvolutional analysis of end motifs to determine the potential roles of DNA nucleases in cfDNA fragmentation. We correlated the fragmentation index (defined as the ratio of short-to-long fragments) with gene expression to estimate the relative contribution of various cellular and tissue sources to cfDNA.</p><p><strong>Results: </strong>Compared to the fasting state, we observed a significant increase in short cfDNA fragments (70-150 bp) and a decrease in long fragments (151-250 bp) at the 30-minute postprandial state, followed by an inverse trend two hours later. Deconvolutional analysis of cfDNA end motifs showed that DNASE1L3 activity decreased at the 30-minute postprandial state, while DNASE1 and DFFB activities increased at the 2-hour postprandial state. We found that the expression of genes related to cellular metabolism and immune responses was upregulated at the postprandial state. Meanwhile, the contribution of cells and tissues involved in metabolic and immune progress to circulating plasma cfDNA was increased.</p><p><strong>Conclusions: </strong>The fragmentation of cfDNA is considerably influenced by postprandial states, highlighting the significance of taking postprandial effects into account when evaluating cfDNA as a biomarker. Furthermore, our study reveals the potential application of cfDNA fragmentation features in monitoring metabolic and immune status changes.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"27"},"PeriodicalIF":3.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11921681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults.","authors":"Xiayin Zhang, Shan Wang, Shunming Liu, Zijing Du, Guanrong Wu, Yingying Liang, Yu Huang, Xianwen Shang, Yijun Hu, Zhuoting Zhu, Wei Sun, Xueli Zhang, Honghua Yu","doi":"10.1186/s40246-025-00737-6","DOIUrl":"10.1186/s40246-025-00737-6","url":null,"abstract":"","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"26"},"PeriodicalIF":3.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11907998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families.","authors":"Jingping Li, Lingyun Zhang, Fangfang Xi, Chuanping Lin, Qitao Zhan, Qing Zhou, Shi Zheng, Weikang Chen, Fan Jin","doi":"10.1186/s40246-025-00736-7","DOIUrl":"10.1186/s40246-025-00736-7","url":null,"abstract":"<p><strong>Background: </strong>Global fertility decline has led to increased use of assisted reproductive technology (ART), raising concerns about genetic risks to offspring. This study aimed to investigate cystic fibrosis transmembrane conductance regulator (CFTR) variants in Chinese families and assess their association with pregnancy complications and neonatal outcomes.</p><p><strong>Methods: </strong>This prospective cohort study included 446 Chinese families (148 natural conceptions, 298 ART conceptions) who underwent whole genome sequencing. We analyzed the frequency of pathogenic/likely pathogenic CFTR variants and their association with preterm birth (PTB), pregnancy complications, and neonatal outcomes.</p><p><strong>Results: </strong>Twelve pathogenic/likely pathogenic CFTR variants were identified, with K464N (c.1392G > T) being the most prevalent (2.9% of cohort). PTB incidence was significantly higher in pregnancies with fetal CFTR variants (43.1%, 22/51) compared to those without (17.5%, 69/395; p < 0.001). Fetuses carrying the CFTR K464N variant exhibited a 3.39-fold increased risk of PTB (95% confidence interval (CI): 1.39-8.23, p = 0.007) after adjusting for confounders. Neither fetal nor maternal CFTR variants were significantly associated with other neonatal outcomes, including neonatal weight, Apgar scores, respiratory distress, or hyperbilirubinemia (p > 0.050).</p><p><strong>Conclusion: </strong>These findings suggest a potential association between fetal CFTR K464N variant and increased risk of preterm birth in Chinese families, highlighting the importance of considering CFTR genotyping in prenatal care.</p>","PeriodicalId":13183,"journal":{"name":"Human Genomics","volume":"19 1","pages":"25"},"PeriodicalIF":3.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}