Circulation-Genomic and Precision Medicine循环：基因组学与精准医学
Circulation-Genomic and Precision Medicine(英文缩写 CIRC-GENOM PRECIS ME),ISSN 2574-8300,eISSN 2574-8300,中文译名:循环：基因组学与精准医学 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-10-01 至 2026-09-30，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 7.465 | Q1 |
| 2022 | 7.400 | Q1 |
| 2023 | 6.000 | Q1 |
| 2024 | 5.500 | Q1 |
| 2025 | 6.100 | Q1 |
Circulation-Genomic and Precision Medicine 最新收录文献
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1. Decoding Long Noncoding RNAs in Cardiac Development and Congenital Heart Disease: Recent Advances and Clinical Perspectives.
PMID:日期:2026-10-02Long noncoding RNAs (lncRNAs) have emerged as crucial regulators in cardiac development and congenital heart disease. With advances in high-throughput sequencing, single-cell omics, and epigenetic profiling, accumulating evidence suggests that lncRNAs participate in transcriptional, posttranscriptional, and structural remodeling processes underlying cardiac morphogenesis. This in-depth review summarizes recent progress in elucidating the roles of lncRNAs in heart development and congenital heart disease pathogenesis. Specifically, we discuss how lncRNAs modulate key developmental signaling pathways, including Notch, Wnt/β-catenin, BMP, and TGF-β, through interactions with chromatin modifiers, transcription factors, and microRNAs. Representative cardiac-enriched lncRNAs, such as , , , , , and are highlighted for their roles in cardiomyocyte lineage commitment, endothelial-to-mesenchymal transition, endocardial-myocardial interactions, and structural morphogenesis. In various congenital heart disease subtypes, including ventricular septal defect, atrial septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome, lncRNAs exhibit disease-specific expression patterns and participate in regulatory networks involving alternative splicing, competing endogenous RNA interactions, and genomic structural variations. Moreover, circulating and exosomal lncRNAs detected in maternal plasma and amniotic fluid have shown promise as candidate biomarkers for prenatal diagnoses. Collectively, these findings reveal that lncRNAs function as multilayered regulators, linking genetic, epigenetic, and environmental factors during cardiac development. A deeper understanding of lncRNA-mediated mechanisms may provide novel molecular targets, biomarkers, and diagnostic strategies for precision prevention and management of newborn infants with congenital heart disease.
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2. Personalized Nutrition for Hypertension: Current Evidence and Future Directions.
PMID:日期:2026-10-02Hypertension is a leading risk factor for cardiovascular disease, with lifestyle interventions, particularly diet, playing a pivotal role in its management. Recent advancements in personalized nutrition that tailor dietary recommendations based on an individual's unique biology (eg, genetics, microbiome) and lifestyle factors can potentially improve blood pressure control. Indeed, emerging evidence suggests that personalized nutrition can result in more effective and sustained blood pressure reductions than general dietary guidelines. This review explores the current evidence supporting personalized nutrition as a novel strategy for managing hypertension, while leveraging established approaches for controlling glycemia. We evaluate studies integrating genetic markers and genomics, gut microbiome profiles, and metabolic phenotypes to design personalized dietary interventions to reduce blood pressure. Specifically, we discuss how nutritional factors, including sodium and fiber intake and diets such as the Dietary Approaches to Stop Hypertension, interact with an individual's genetic predisposition and gut microbiota composition to influence blood pressure outcomes. However, challenges remain in translation to clinical practice, including the need for larger, long-term trials in real-world settings, accessibility of advanced dietary assessments, considerations of patient adherence, and equity. We highlight the potential of personalized nutrition to refine hypertension treatment and call for further research to optimize its implementation at the public health and clinical practice levels. Particularly in low- and middle-income countries, where hypertension prevalence is higher, cost is an important consideration for successful implementation. However, some personalized treatments focusing on diet are cost-effective and should be prioritized. Ultimately, a personalized nutrition approach may offer a powerful tool for mitigating the global burden of hypertension through targeted, individualized dietary strategies.
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3. Cardiologist-Delivered Genetic Testing in 482 Patients With Cardiomyopathy: The Infrastructure Needed for Mainstream Testing at Scale.
3. 心脏科医生在482例心肌病患者中实施的基因检测：大规模主流检测所需的基础设施建设PMID:日期:2026-10-02Mainstream cardiac genetic testing, in which the treating cardiologist orders and returns multigene panel results without a traditional genetic counseling session, may expand access, but no mainstream program has quantified the operational burden. We quantified high-risk genotypes, variant reclassification, and carrier findings in a mainstream cardiomyopathy testing program to characterize the infrastructure required for safe scale-up. We retrospectively analyzed 482 consecutive patients with dilated cardiomyopathy (n=338), nondilated left ventricular cardiomyopathy (n=84), or hypertrophic cardiomyopathy (n=60) who underwent multigene panel testing ordered by cardiologists at the Broderick Cardiomyopathy Program (January 2022 to February 2026). Variant classifications used each laboratory's most current interpretation. Diagnostic pathogenic/likely pathogenic variants were identified in 95 of 482 patients (yield, 19.7% [95% CI, 16.4%-23.5%]) across 21 genes. Three categories of results required program-level infrastructure: (1) 18 of 95 genotype-positive patients (18.9%) had high-risk genotypes (, , [truncating], , ) requiring genotype-specific management; (2) 8 of 12 reclassified variants (12/743 total, 1.6%) crossed the pathogenic/likely pathogenic threshold, including 7 variant of uncertain significance-to- pathogenic/likely pathogenic upgrades converting nondiagnostic patients to genotype-positive; and (3) carrier findings comprised 26 of 121 pathogenic/likely pathogenic variants (21.5%), inflating apparent yield to 23.7% if carrier findings were not distinguished from diagnostic results based on gene inheritance pattern. Variants of uncertain significance were reported in 295 patients (61.2%). These data identify 5 capabilities that support safe mainstream scale-up: high-risk genotype pathways for the 1 in 5 diagnostic patients with a high-risk variant, variant surveillance with recontact capacity for the 1 in 60 patients affected by actionable reclassification, recognition of gene inheritance pattern for the 1 in 19 patients with a carrier finding, a defined referral pathway to medical genetics, and standardized family screening infrastructure for all result categories.
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4. {"_":"-Related Cardiomyopathies in an Admixed Population: Expanding the Genotype-Phenotype Spectrum and Clinical Correlates.","i":["FLNC"]}
4. {"_":"相关心肌病在混合人群中的研究：扩展基因型-表型谱及临床相关性。","i":["FLNC"]}PMID:日期:2026-10-02Pathogenic and likely pathogenic variants in filamin C () cause a broad spectrum of cardiomyopathies. However, available genotype-phenotype data are derived predominantly from European and North American populations, with limited representation of admixed populations. We characterized carriers of pathogenic/likely pathogenic variants identified among 2654 unrelated probands undergoing exome sequencing for suspected inherited cardiomyopathy and their relatives identified through cascade screening. Clinical, electrocardiographic, imaging, genetic, and longitudinal data were analyzed according to cardiomyopathy phenotype and variant class. Genetic ancestry was evaluated. Associations with arrhythmic, heart failure, and composite outcomes were examined in exploratory analyses. The cohort included 97 carriers (58 probands, 39 relatives), of whom 72 had cardiomyopathy and 25 were phenotype-negative at evaluation. Truncating variants predominated among patients with arrhythmogenic cardiomyopathy and dilated cardiomyopathy, whereas missense variants were concentrated among those with hypertrophic cardiomyopathy and restrictive cardiomyopathy. Arrhythmogenic cardiomyopathy and dilated cardiomyopathy were characterized by a greater burden of ventricular arrhythmias, low QRS voltage, systolic dysfunction, and myocardial fibrosis, whereas hypertrophic cardiomyopathy and restrictive cardiomyopathy showed greater wall thickness and more atrial arrhythmias. Twelve pathogenic/likely pathogenic variants absent from gnomAD and ClinVar were identified. Ancestry analysis confirmed heterogeneous genetic backgrounds but detected no ancestry-related differences in variant class or phenotype. In exploratory outcome analyses, nonsustained ventricular tachycardia, low QRS voltage, and late gadolinium enhancement were associated with outcomes. This deeply phenotyped Brazilian cohort expands the variant spectrum and supports broad genotype-phenotype associations across an admixed population. Exploratory findings suggest that markers of ventricular arrhythmia and myocardial fibrosis may complement left ventricular ejection fraction in future risk-stratification strategies, although validation in larger, independent cohorts is required.
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5. Genomic Yield of Long-Read Sequencing in Congenital Heart Disease.
PMID:日期:2026-09-30Congenital heart disease (CHD) is the most common birth defect. Ninety percent of isolated cases remain genotype-elusive despite short-read genome sequencing (GS). Our goal was to assess genomic yield with long-read GS compared with short-read GS in CHD. We performed Illumina short-read GS on 1101 CHD probands. In a subset of 46 genotype-elusive probands, we performed additional PacBio long-read GS as well as parental sequencing of 7 complete trios. We compared variant calls genome-wide, including across dark and CHD genes in samples with paired short-read and long-read GS. Paired analysis of the 46 probands revealed that genome-wide, long-read GS had 1.01- to 7.93-fold higher call rates of single nucleotide variants, deletions, duplications, and insertions but fewer indels and inversions compared with short-read GS. With a genome-wide sequencing depth of 18.3×, long-read GS had higher coverage for 10 Tier 1 CHD genes and dark genes, but nonuniform and low sequencing depth (<10×) in intragenic regions of 4 of these genes. Long-read GS was better able to resolve complex structural variants and the size of large repeat expansions in 59 known disease-causing regions. For example, long-read GS accurately characterized a complex de novo structural variant upstream of in a CHD proband who had an extracardiac phenotype overlapping with Mowat-Wilson syndrome. Long-read GS demonstrated higher genome-wide variant call yield compared with short-read GS, better coverage of several cardiac-relevant genes, and better resolution of complex structural variants, including tandem repeat expansions. Long-read GS may provide an option for a subset of patients with CHD who remain genotype-elusive on short-read GS.
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6. Rare Cardiac Genetic Variation Is Associated With Postoperative Atrial Fibrillation.
PMID:日期:2026-09-30New-onset postoperative atrial fibrillation (POAF) is a common surgical complication, yet the contribution of rare genetic variants to POAF is poorly characterized. We conducted a cohort study including 49 913 adults who underwent surgery without a preoperative diagnosis of atrial fibrillation (AF). All participants had whole-genome sequencing linked to electronic health record data. Pathogenic or likely pathogenic (LP) variants were identified in 141 cardiac genes associated with early-onset AF. The primary outcome was POAF, defined as a new diagnosis of AF within 30 days of surgery; the secondary outcome was freedom from AF over 5 years. Multivariable regression and propensity-score matching were used to evaluate the associations between pathogenic/LP variants and POAF. Among 49 913 participants, 2298 underwent cardiac surgery and 47 615 underwent noncardiac surgery. The prevalence of pathogenic/LP variants was 6.0% in the cardiac surgery group (138/2298) and 4.1% in the noncardiac surgery group (1947/47 615). Overall, carriers of ≥1 pathogenic/LP variant had higher odds of POAF than noncarriers (6.6% versus 4.0%; odds ratio [OR], 1.8 [95% CI, 1.4-2.1]). In cardiac surgery, 36.0% of pathogenic/LP carriers (78/216) developed POAF versus 23.4% of noncarriers (492/2082; OR, 2.3 [95% CI, 1.4-3.2]), and in noncardiac surgery, POAF occurred in 3.8% of carriers (74/1947) versus 2.5% of noncarriers (1465/45 668; OR, 1.5 [95% CI, 1.2-1.9]). Pathogenic/LP variants in cardiomyopathy-only genes (n=589; OR, 1.8 [95% CI, 1.3-2.6]) or in genes associated with both cardiomyopathy and arrhythmia (n=1059; OR, 1.8 [95% CI, 1.4-2.3]) were significantly associated with POAF, whereas variants in arrhythmia-only genes (n=454; OR, 1.3 [95% CI, 0.8-2.1]) were not. Five-year freedom from AF was lower among pathogenic/LP variant carriers in both cardiac surgery (53% versus 64%; =0.010) and noncardiac surgery (92% versus 94%; =0.002). Rare pathogenic/LP variants in cardiomyopathy genes were associated with risk of POAF and reduced AF-free survival over long-term follow-up across cardiac and noncardiac surgery.
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7. Polygenic Risk Scores of Coronary Heart Disease in Chronic Kidney Disease Population: The CRIC Study.
PMID:日期:2026-09-30Cardiovascular disease is a major cause of death in individuals with chronic kidney disease; thus, improving its prediction is critical for cardiovascular disease risk reduction. Studies have not assessed whether a polygenic risk score (PRS) of coronary heart disease (CHD) developed from genetic studies in the general population can improve cardiovascular disease risk prediction in individuals with chronic kidney disease, especially when PRS is added to the American Heart Association Predicting Risk of Cardiovascular Disease EVENTs (PREVENT) equations. Focusing on a 10-year composite CHD event, we applied PRSs of CHD obtained from the polygenic score catalog to the multi-center CRIC (Chronic Renal Insufficiency Cohort) participants, selected the best-performing PRS and evaluated the added value of the best PRS while accounting for PREVENT linear predictors. Three Cox proportional hazard models were fitted with PRS only, PREVENT predictors only, and PRS+PREVENT risk factors. We evaluated the prediction accuracy, discrimination, and calibration of the combined model compared with the PREVENT model. A PRS of CHD was significantly associated with a 21% hazard of CHD in the PRS+PREVENT risk model (95% CI, [1.06-1.39], 2-sided Wald test =5.5×10). The PRS+PREVENT model demonstrated a higher area under the curve (72.4% [95% CI, 0.66-0.79] versus 70.8% [95% CI, 0.64-0.77]), better discrimination ability, and improved calibration compared with the PREVENT model predictors. Individuals were more correctly classified in prediction quartiles using the PRS+PREVENT model for the 10-year CHD event proportions. Our results demonstrate the added value of a CHD PRS to the PREVENT risk prediction models in individuals with chronic kidney disease. The combined PRS+PREVENT model has the potential to improve clinical decisions on disease prevention and treatment strategies.
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8. Homozygous TNNC1-A8V Causes Impaired Diastolic Function and Restrictive Cardiomyopathy in Children and Mice.
8. 纯合TNNC1-A8V突变导致儿童和小鼠舒张功能受损及限制型心肌病PMID:日期:2026-09-30Pathological variants in are associated with the development of hypertrophic cardiomyopathy. Unlike other sarcomeric genes, variants tend to cause early-onset disease, and the most common variant identified in the gene, TNNC1-A8V, may also lead to severe diastolic dysfunction and restrictive cardiomyopathy. Yet, this variant-disease association, and the mechanism of diastolic disease development remain poorly understood. To address this, we sought to determine whether the A8V variant was associated with the development of restrictive cardiomyopathy, and if so, to determine the frequency and age-specific spectrum of disease relative to hypertrophic cardiomyopathy. A pediatric proband was identified carrying the TNNC1-A8V variant. Sanger sequencing and cardiac evaluations were performed on several of the proband's family members. A literature search was performed to evaluate the cardiac penetrance of TNNC1-A8V. Additionally, we investigated cardiac contractility in a homozygous A8V mouse model. We assessed left ventricular function in 10- to 12-week-old mice via cardiac catheterization and left ventricular global and segmental myocardial strain analyses. Electrophysiological studies were conducted to evaluate arrhythmic predisposition. We report an 8-month-old female homozygous for p.A8V (c.C23T) who presented with bi-atrial enlargement, normal ventricular function, and ventricular tachycardia. Cardiac histology of the proband showed subendocardial vacuolization, endocardial fibrosis, and localized myocardial enhancement. The A8V mouse model showed an elevated end-diastolic pressure-volume relationship, prolonged relaxation time (tau), and impaired ventricular relaxation rate (dP/dt min) compared with controls, consistent with increased myocardial stiffness. Strain analyses further highlighted left ventricular dysfunction and dyssynchrony, and ECG analyses revealed atrial remodeling and enlargement at 10 weeks of age. Homozygous A8V mice recapitulate the severe diastolic dysfunction and early-onset restrictive cardiomyopathy observed in the pediatric proband carrying this pathogenic variant, underscoring the utility of this model for advancing translational research. Identifying myofilament-specific defects opens the door for precision therapies tailored to the underlying molecular disarray.
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9. Gene-Corrected Human iPSC-Derived Cardiomyocytes and Skeletal Muscles Reveal Partial Dystrophin Dp427 Preservation and Cardiac Dp116 Expression in Duchenne Muscular Dystrophy Patient With a Splice-Site Mutation in Intron 68 (c.9975-1G>T).
PMID:日期:2026-09-25Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disease caused by mutations in the gene, leading to the absence or dysfunction of dystrophin. Although cardiac and skeletal muscles are both affected, tissue-specific differences in disease manifestation and dystrophin regulation remain poorly understood. To investigate these differences, we established a human induced pluripotent stem cell model of DMD from peripheral blood mononuclear cells of a patient (DMD patient with a point mutation in intron 68 (c.9975-1G>T) investigated in the study [DMB15]) carrying a splice-site mutation in intron 68 (c.9975-1G>T). An isogenic control line was generated via clustered regularly interspaced short palindromic repeats/clustered regularly interspaced short palindromic repeats-associated protein 9 correction. Both repaired and DMD human induced pluripotent stem cells were differentiated into cardiomyocytes (DMB15-CMs) and skeletal muscle cells (DMB15-derived skeletal muscle cells); the skeletal muscle lineage included a myoblast (DMB15-derived myoblasts) stage. Transcript and protein analyses were performed, along with functional assessments using microelectrode array recordings and calcium handling analysis. Transcript analysis revealed an in-frame deletion of 2 amino acids (Tyr3325 and Arg3326) due to skipping of the first 6 nucleotides of exon 69. Despite this, near full-length Dp427 (full-length dystrophin isoform of 427 kDa) was detected by Western blot, along with expression of Dp116 (dystrophin isoform of 116 kDa) in DMB15-CMs. Dystrophin levels were preserved in DMD DMB15-CMs but markedly reduced in DMB15-derived skeletal muscle cells, suggesting tissue-specific regulation. Analysis of DMB15-derived myoblasts demonstrated possible changes in myogenic program activation, alongside inconsistent expression of utrophin, the dystrophin paralogue. Functional analysis showed altered β-adrenergic responsiveness in DMD DMB15-CMs, with increased beating frequency and accelerated repolarization on isoproterenol stimulation. DMB15-CMs showed largely preserved basal Ca cycling but failed to maintain a normal amplitude response under β-adrenergic stimulation. Our study identifies a splice-site gene mutation that preserves high levels of dystrophin expression in cardiac muscle but reduced in skeletal muscle and reveals Dp116 expression in cardiomyocytes. These findings highlight the importance of tissue context in DMD and demonstrate the power of human induced pluripotent stem cell-based systems for dissecting mutation-specific effects.
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10. Clinical Characteristics and Outcomes of Hypertrophic Cardiomyopathy Associated With Thin Filament Variants: Insights From the SHaRe Registry.
PMID:日期:2026-09-24Conflicting evidence exists about whether sarcomeric hypertrophic cardiomyopathy (HCM) caused by genes encoding thin filament proteins (, ; thin filament HCM) has a distinct clinical presentation and natural history from disease caused by the more commonly involved thick filament genes (, , , ; thick filament HCM). Retrospective analysis of the Sarcomeric Human Cardiomyopathy Registry. Four hundred eighty-eight patients with thin filament HCM were compared with 3494 patients with thick filament HCM. After controlling for age at diagnosis, sex, and proband status, thin filament HCM was associated with a higher risk of composite ventricular arrhythmias (hazard ratio, 1.48 [95% CI, 1.09-2.01]), cardiac arrest (hazard ratio, 2.02 [95% CI, 1.33-3.06]), and heart transplant or left ventricular assist device implantation (hazard ratio, 2.18 [95% CI, 1.3-3.65]). Younger age at diagnosis was associated with an increased risk for the ventricular arrhythmia composite outcome in thin and thick filament HCM (hazard ratio, 0.93 [95% CI, 0.91-0.94]; hazard ratio, 0.93 [95% CI, 0.93-0.94]; age reported as 5-year increment). Within specific thin filament genes, an increased risk of arrhythmic events or heart transplant/left ventricular assist device implantation was evident for variants in amino acids 92 to 94 (odds ratio versus other variants; odds ratio, 3.02 [95% CI, 1.17-7.49]) and amino acids 191 to 210 (odds ratio versus other variants; odds ratio, 3.5 [95% CI, 1.58-8.02]). Thin filament HCM seems to carry a higher risk for ventricular arrhythmias and advanced heart failure compared with thick filament HCM. Integrating gene-level and intragene-level information may improve risk stratification in patients with HCM.