Identification of Interactive Genetic Loci Linked to Insulin Resistance in Metabolic Syndrome—An Update

Medicina, Journal Year: 2025, Volume and Issue: 61(1), P. 83 - 83

Published: Jan. 7, 2025

Metabolic syndrome is a metabolic disorder characterized by hypertension, dyslipidemia, impaired glucose tolerance, and abdominal obesity. Impaired insulin action or resistance initiates syndrome. The prevalence of increasing all over the world. Insulin results in defective metabolism carbohydrates lipids, addition to low-grade chronic inflammation. associated with syndrome, which risk factor for number pathological conditions, such as Type 2 diabetes (T2D), cardiovascular disease (CVD), nonalcoholic fatty liver (NAFLD), polycystic ovarian (PCOS). Genome-wide association studies have increased our understanding many loci linked these diseases others. In this review, we discuss its contribution diseases. We also genetic them. Genetic testing invaluable identification stratification susceptible populations and/or individuals. After individuals been identified via screening, lifestyle modifications regular exercise, weight loss, healthy diet, smoking cessation can reduce prevent pathologies.

Language: Английский

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Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants

European Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 27, 2025

Abstract With increasing availability of genetic tests, it is important to consider differences in testing patterns between population subgroups. We examined self-reported among 45,061 participants the Australian population-based 45 and Up Study, for associations with sociodemographic health characteristics (multivariable logistic regression). 9.2% reported ever having testing; 3.9% disease-related testing, 5.2% non-disease-related 0.7% both testing. Disease-related was strongly associated younger age, female sex, history cancers cardiovascular disease, cancer family history. also higher education (university versus school certificate: adjusted OR [aOR] = 1.50 [95%CI:1.29–1.75]; certificate/diploma aOR 1.40 [95%CI:1.20–1.63]); there suggestive evidence association household income ($AUD90,000+ <$AUD30,000: 1.22 [95%CI:1.02–1.46]), which strengthened when not adjusting (aOR 1.34 [95%CI:1.13–1.60]). These results suggest further work on ensuring equitable access needed prevent potential inequities.

Language: Английский

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Construction of an aptasensor based on the composite nanomaterial IL-rGO-TEPA/SiO2-AuPt and its high-sensitive detection of cardiac troponin I

Journal of Saudi Chemical Society, Journal Year: 2024, Volume and Issue: 28(4), P. 101898 - 101898

Published: June 27, 2024

To accurately diagnose and evaluate the degree of myocardial injury predict infarction disease, rapid sensitive detection cardiac troponin I (cTnI) is required. Therefore, a label-less electrochemical aptasensor was prepared for cTnI determination. Ionic liquid 1-hydroxyethy l-3- methyl imidazole four fluorine boric acid salt (IL)-reduced graphene oxide − ethylene oxidation reduction five amine (rGO-TEPA)/silica (SiO2)- gold platinum (AuPt) (IL-rGO-TEPA/SiO2-AuPt) nanocomposites were synthetized as substrate nanocomposite characterized using series characterization methods. The performance through Result displayed that better materials synthesized, showed excellent performance. Under optimal conditions, had salient analytical signals linearly decreased with logarithm concentration between 0.5 pg·mL−1 1 × 106 range (R2 value = 0.9955) wide (0.5 ∼ pg·mL−1) low limit 0.4 pg·mL−1. At same time, good selectivity, repeatability stability. Relative standard deviation (RSD) values ranged from 3.45 % 4.97 recovery rate 97.5 103 in human serum samples, RSD spiked ELISA method less than 5 %. This study provides new theoretical basis clinical cTnI.

Language: Английский

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Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(18), P. 9787 - 9787

Published: Sept. 10, 2024

Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated (DCM), and hypertrophic (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity mortality are often driven by genetic factors. Recent advances in next-generation sequencing (NGS) technology have enabled the identification rare variants both well-established minor genes associated with CMPs. Nowadays, set core is included diagnostic panels for ACM, DCM, HCM. On other hand, despite their lesser-known status, may disease mechanisms influence prognosis. This review evaluates current evidence supporting involvement CMPs, considering potential pathogenicity clinical significance. A comprehensive analysis databases, such as ClinGen, ClinVar, GeneReviews, along recent literature guidelines provides thorough overview landscape CMPs offers guidance practice, evaluating each case individually based on referral, insights future research. Given increasing knowledge these less understood factors, studies essential clearly assess roles, ultimately leading improved precision therapeutic strategies hereditary

Language: Английский

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Beyond the Beat: Understanding Inherited Risk and Therapeutic Opportunities in Cardiovascular Diseases with Emphasis on Inherited Cardiomyopathies and Inherited Arrhythmic Syndromes

Cardiogenetics, Journal Year: 2024, Volume and Issue: 14(3), P. 149 - 169

Published: Sept. 2, 2024

Over the past three decades, significant progress has been made in elucidating intricate connection between genetic predispositions and cardiovascular diseases (CVDs). Through extensive investigation, numerous variants linked to various conditions have discovered, shedding crucial light on underlying biological mechanisms pathways. These discoveries not only revolutionized risk assessment for patients but also paved way personalized treatment strategies, allowing healthcare providers tailor interventions according individual profiles. Furthermore, testing facilitated cascade screening, enabling early identification intervention of potential issues among at-risk family members. This review aims comprehensively summarize current state knowledge regarding inherited novel insights from human genome epigenome research, as well therapeutic opportunities CVDs with special emphasis cardiomyopathies arrhythmic syndromes. The newest translational trials pharmaceutical approaches are discussed, including gene therapy options heart failure cardiomyopathies.

Language: Английский

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Identification of potential therapeutic targets for nonischemic cardiomyopathy in European ancestry: an integrated multiomics analysis

Cardiovascular Diabetology, Journal Year: 2024, Volume and Issue: 23(1)

Published: Sept. 12, 2024

Language: Английский

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Genetic testing in cardiovascular disease

The Medical Journal of Australia, Journal Year: 2024, Volume and Issue: 221(9), P. 501 - 502

Published: Oct. 8, 2024

In reply: We thank Martin and colleagues1 for their critical appraisal of our review on genetic testing in cardiovascular disease, published the MJA.2 agree that utility needs to consider burden age onset, treatment options available individuals identified with causal variant. also concur colleagues regarding value early detection familial hypercholesterolaemia.2 particularly appreciate emphasis hypercholesterolaemia being a disorder frequently paediatric patients, proposed clinical pathway prevention atherosclerosis myocardial infarction, consideration lipid-lowering after maximal lifestyle interventions from six those homozygosity.3 general population, current expert consensus guidelines continue recommend as confirmatory tool following identification using tools such Simon Broome Diagnostic Criteria or Dutch Lipid Clinic Network Score.3, 4 However, hypercholesterolaemia-associated variant an individual justifies further cascade first-, second-, even third-degree biological relatives earlier diagnosis intervention.5, 6 As many conditions highlighted article, role continues evolve improved understanding disease architecture, experience incorporating genomic testing, access sequencing technologies. Health economics, guideline development, policy changes will be key maximising all tests space. MPG reports no relevant financial conflicts interest. GAF grants National Medical Research Council (Australia), Abbott Diagnostic, Sanofi, Janssen Pharmaceuticals, NSW Health. honorarium CSL, CPC Clinical Research, Boehringer-Ingelheim, Heart Foundation, Diagnostic. serves board director Australian Cardiovascular Alliance (past president), executive committee member founding CMO Prokardia Kardiomics, CAD Frontiers A2D2 Consortium. addition, non-profit, Frontiers, industry partners including Novartis, Amgen, Siemens Healthineers, ELUCID, Foresite Labs LLC, HeartFlow, Canon, Cleerly, Caristo, Genetech, Artyra, Bitterroot Bio Allelica. has patents: "Patent Biomarkers Oxidative Stress" awarded USA May 2017 (US9638699B2) issued Northern Sydney Local District, "Use P2X7R antagonists disease" PCT/AU2018/050905 licensed Prokardia, "Methods vascular PCT/AU2015/000548 University Sydney/Northern "Wound healing methods" PCT/AU2022/050129 Sydney, compositions" PCT/AU2022/050130 predicting coronary artery AU202290266 patent "Novel P2X7 Receptor Antagonists" PCT/AU2022/051400 (23.11.2022), International App No: WO/2023/092175 (01.06.2023), Sydney.

Language: Английский

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Association between haptoglobin polymorphism and coronary artery disease: a meta-analysis

Frontiers in Genetics, Journal Year: 2024, Volume and Issue: 15

Published: Sept. 11, 2024

Previous studies have investigated the association between haptoglobin rs72294371 polymorphism and coronary artery disease (CAD) risk, but results are controversial uncertain. Therefore, this study aimed to systematically review literature on susceptibility CAD.

Language: Английский

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Genetic testing in cardiovascular disease

The Medical Journal of Australia, Journal Year: 2024, Volume and Issue: 221(9), P. 501 - 501

Published: Oct. 8, 2024

To the Editor: We read with interest review by Gray and colleagues on genetic testing in cardiovascular disease, particular familial hypercholesterolaemia.1 As they highlight, hypercholesterolaemia is common when undetected untreated, leads to premature coronary artery disease (CAD). There are more than 100 000 individuals Australia, 20 of them children under 16 years, an additional three born every day.2 Similar other countries, 95% across Australia currently undiagnosed, a trajectory develop CAD.3 Genetic should be offered confirm diagnosis probable hypercholesterolaemia. Currently, childhood usually follows cascade screening after detection parent However, several opportunities detect have been proposed, including child–parent at time immunisation.5 Universal genomic newborn screening, combined reverse parents, great potential for improving outcomes both adults Once has made child, management relatively straightforward, education healthy lifestyle initiation lipid lowering therapy age 8 10 years heterozygous hypercholesterolaemia, achieve LDL-cholesterol level less 3.5 mmol/L (95th percentile) or 40–50% reduction. Treatment homozygous ideally started 2 5 years. "Prevention better cure". It that we redefine as treatable paediatric disorder, transforming perspectives our adult so together can change natural history this condition from childhood, thus avoiding development CAD national level. No relevant disclosures.

Language: Английский

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Novel Drug Targets for Nonischaemic Cardiomyopathy Identified by Integrated Proteomic and Genomic Analysis

Published: Jan. 1, 2024

Background: Nonischaemic cardiomyopathy (NISCM) poses significant challenges in clinical management due to its complex etiology and limited therapeutic targets. Recent advancements genomics proteomics have enabled the identification of novel drug targets for NISCM.Methods: Utilizing public databases, we extracted data on circulating plasma protein levels associated genetic variants. We analyzed single nucleotide polymorphisms linked NISCM using FinnGen R10 database. Mendelian randomization was employed estimate risk associations between NISCM, supplemented by protein-protein interaction analysis. Bayesian analysis facilitated with strong colocalization evidence, leading discovery potential drugs via molecular docking.Findings: discovered 16 proteins related including critical immune-inflammatory pathways such as C5, F7, BTD, SAA1, SAA2. identified LILRA5 NELL1 having strongest evidence colocalization. These demonstrated stable binding atenolol naringenin, respectively, positioning them high-potential targets.Interpretation: Our results highlight effectiveness integrating proteomic identify new NISCM. are particularly promising candidates further development.Funding: Hainan Key Research Development Project (ZDYF2020122, ZDYF2022SHFZ038), National Natural Science Foundation China (82060053, 82260083, U220A20270), Cardiovascular Disease Innovation Group Medical University, Innovative Projects Graduate Students Province (Qhyb2022-140).Declaration Interest: The authors declare no competing interests.Ethical Approval: All analyses use data, ethical consent approval obtained original studies; thus, additional or informed required this study.

Language: Английский

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