Article
Biochemistry & Molecular Biology
Luigi Nibali, Abish S. Stephen, Robert P. Allaker, Antonino Di Pino, Valentina Terranova, Marcella Pisano, Salvatore Di Marca, Viviana Ferrara, Roberto Scicali, Francesco Purrello, Nikolaos Donos, Matteo Regolo, Lorenzo Malatino
Summary: Host genetic variants may influence the oral microbiome and play a role in the link between periodontitis and systemic diseases. This study investigated the associations between host genetic variants and subgingival microbiota in patients with metabolic syndrome. Specific SNPs within certain genes were found to be associated with microbial diversity, but no genome-wide associations were detected for periodontitis severity or metabolic syndrome components. Severe periodontitis was associated with pathogenic bacteria. Some SNPs were correlated with specific bacterial genera and taxa. This suggests that host genotypes may contribute to dysregulated immune responses in periodontitis and further interact with the oral microbiome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Sen Li, Zhaoqi Jia, Zhang Zhang, Yuxin Li, Meihui Yan, Tingting Yu
Summary: Novel associations between cardiovascular diseases and key genetic variants were identified in the study, highlighting the importance of genetic testing in the diagnosis and prevention of CVDs.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, Legal
Pavel Votypka, Alice Krebsova, Patricia Norambuena-Poustkova, Petra Peldova, Stepanka Pohlova Kucerova, Marketa Kulvajtova, Petra Dohnalova, Matej Bilek, Veronika Stufka, Kristina Rucklova, Iva Grossova, Hanka Wuenschova, Terezia Tavacova, Jana Haskova, Marketa Seget'ova, Jakub Stocek, Andrea Gregorova, Veronika Zoubkova, Jana Petrkova, Martin Dobias, Michal Makusa, Alzbeta Blankova, David Vajtr, Hynek Rehulka, Ivan Subrt, Alexander Pilin, Petr Tomasek, Jan Janousek, Josef Kautzner, Milan Macek
Summary: This study analyzed 100 Sudden Cardiac Death (SCD) cases and identified pathogenic or likely pathogenic variants in 22 cases. Additionally, the study revealed 83 relatives at risk of SCD through cardiological and genetic screening. These findings highlight the clinical importance of genetic testing and family screening in the diagnosis and risk assessment of SCD. The establishment of a national collaboration group is crucial for further development of these diagnostic tests.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2023)
Review
Genetics & Heredity
Judith Kruse, Regina Mueller, Ali A. Aghdassi, Markus M. Lerch, Sabine Salloch
Summary: Genetic testing presents ethical challenges at individual, organizational, and macro levels of healthcare systems. This systematic review provides a comprehensive overview of the ethical aspects relevant to genetic testing for rare diseases, highlighting the complexity and diversity of these issues. The findings of this review can guide further investigation of specific ethical issues, educate healthcare professionals, and inform international policy development on genetic testing for rare diseases.
FRONTIERS IN GENETICS
(2022)
Article
Immunology
Min Zhang, Ye Bai, Yutong Wang, Huijie Cui, Mingshuang Tang, Lanbing Wang, Xin Wang, Dongqing Gu
Summary: This study comprehensively summarizes the relationship between several polymorphisms in the IL6R gene and the risk of various human diseases and phenotypes. The study highlights the potential pharmacological targeting of IL-6R in cardiovascular and inflammatory diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Steffany Grondin, Brianna Davies, Julia Cadrin-Tourigny, Christian Steinberg, Christopher C. Cheung, Paloma Jorda, Jeffrey S. Healey, Martin S. Green, Shubhayan Sanatani, Wael Alqarawi, Paul Angaran, Laura Arbour, Pavel Antiperovitch, Habib Khan, Richard Leather, Peter G. Guerra, Lena Rivard, Christopher S. Simpson, Martin Gardner, Ciorsti MacIntyre, Colette Seifer, Anne Fournier, Jacqueline Joza, Michael H. Gollob, Guillaume Lettre, Mario Talajic, Zachary W. Laksman, Jason D. Roberts, Andrew D. Krahn, Rafik Tadros
Summary: Genetic testing identifies disease-causing variants in 10% of survivors of cardiac arrest. The majority of these variants are located in genes associated with cardiomyopathy, highlighting their arrhythmogenic potential in the absence of an overt cardiomyopathy diagnosis. This study supports the use of genetic testing, including assessment of arrhythmia and cardiomyopathy genes, in survivors of cardiac arrest.
EUROPEAN HEART JOURNAL
(2022)
Article
Medicine, General & Internal
Anouk Le Goueff, Guillaume Smits, Melanie Delaunoy, Isabelle Vandernoot, Frederic Vandergheynst
Summary: The study aimed to explore the diagnostic yield of evolving genetic testing methods for autoinflammatory diseases, finding that increasing gene panels lead to a higher diagnostic rate.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Karri Silventoinen, Hannu Lahtinen, George Davey Smith, Tim T. Morris, Pekka Martikainen
Summary: This study used a polygenic score for height to reveal the associations between height, socioeconomic position, and coronary heart disease incidence. The results showed clear gradients for residual height in relation to education, social class, and income, with a stronger association for residual height. These findings support the role of material and social living conditions in childhood as contributing factors to the association of height with both socioeconomic position and CHD risk.
JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH
(2023)
Article
Medicine, General & Internal
Maria Carolina Borges, Philip C. Haycock, Jie Zheng, Gibran Hemani, Michael Holmes, George Davey Smith, Aroon D. Hingorani, Deborah A. Lawlor
Summary: Despite early interest in the health effects of PUFA, there is still controversy and uncertainty regarding the link between PUFA and CVDs. This study used Mendelian randomization to investigate the effect of plasma PUFA concentration on the risk of CVDs and found no protective role of PUFA.
Review
Cardiac & Cardiovascular Systems
Abdulla A. Damluji, Robert H. Christenson, Christopher deFilippi
Summary: In patients with cardiovascular disease, antibody or serological testing is common during the evolving pandemic. Misinterpretation of these tests has caused confusion in the medical community, highlighting the significance of understanding testing strategies and results for controlling virus transmission.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Urology & Nephrology
Ana Maria Tato, Noa Carrera, Maria Garcia-Murias, Amir Shabaka, Ana Avila, Maria Teresa Mora Mora, Cristina Rabasco, Karina Soto, Francisco Jose de la Prada Alvarez, Loreto Fernandez-Lorente, Antolina Rodriguez-Moreno, Ana Huerta, Carmen Mon, Clara Garcia-Carro, Fayna Gonzalez Cabrera, Juan Antonio Martin Navarro, Ana Romera, Eduardo Gutierrez, Javier Villacorta, Alberto de Lorenzo, Beatriz Aviles, Miguel Angel Garca-Gonzalez, Gema Fernandez-Juarez, GLOSEN group
Summary: The frequency and distribution of genetic variants in patients with SRNS-FSGS and FSGS-UC were determined in this study. The results showed that genetic variants related to FSGS were detected regardless of the age of onset or family history of the disease. Therefore, genetic testing should be performed for patients with SRNS-FSGS or FSGS-UC, regardless of age or family history.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Medicine, General & Internal
Haoqi Zhou, Xin Wang, Ying Yang, Zuo Chen, Linfeng Zhang, Congyi Zheng, Lan Shao, Ye Tian, Xue Cao, Zhen Hu, Yixin Tian, Lu Chen, Jiayin Cai, Runqing Gu, Zengwu Wang
Summary: This study aimed to establish a multicomponent intervention delivered on a web-based telemedicine platform, guided by the Chinese hypertension management guidelines, and evaluate the effect of the intervention on blood pressure control for patients with hypertension.
Article
Hematology
Xiang Li, Hao Ma, Xuan Wang, Han Feng, Lu Qi
Summary: The study aimed to analyze the relationship between cardiovascular health indicated by the Life's Essential 8 (LE8) metric and the risks of coronary heart disease (CHD), stroke, and cardiovascular disease (CVD). The results showed that a higher LE8 score was associated with significantly lower risks of CHD, stroke, and CVD. The LE8 model achieved higher accuracy and outperformed the Life's Simple 7 model in predicting these cardiovascular diseases.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Felix Vaura, Joonatan Palmu, Jenni Aittokallio, Anni Kauko, Teemu Niiranen
Summary: This review article provides an overview of sex differences in the genetic architecture, epigenome, transcriptome, and metabolome of cardiovascular disease traits, as well as the associations between sex hormones and these traits and the potential mechanisms underlying these associations in human studies.
CIRCULATION RESEARCH
(2022)
Article
Cardiac & Cardiovascular Systems
Pia Davidsson, Susanna Eketjall, Niclas Eriksson, Anna Walentinsson, Richard C. Becker, Anders Cavallin, Anna Bogstedt, Anna Collen, Claes Held, Stefan James, Agneta Siegbahn, Ralph Stewart, Robert S. Storey, Harvey White, Lars Wallentin
Summary: This study investigated the associations between circulating VEGF ligands and/or soluble receptors and cardiovascular (CV) outcomes in patients with acute coronary syndrome (ACS) and chronic coronary syndrome (CCS). The results showed that VEGF-D, KDR, Flt-1, and PlGF were significantly associated with CV outcomes. Furthermore, genetic variants of VEGFD were also found to be independently associated with CV outcomes.
CARDIOVASCULAR RESEARCH
(2023)
Article
Genetics & Heredity
Connie Jiang, Ebony Richardson, Jessica Farr, Adam P. Hill, Rizwan Ullah, Brett M. Kroncke, Steven M. Harrison, Kate L. Thomson, Jodie Ingles, Jamie I. Vandenberg, Chai-Ann Ng
Summary: The utility of an automated patch-clamp assay was investigated in aiding clinical variant classification in KCNH2. The assay provided moderate-strength evidence for clinical interpretation of KCNH2 variants, enabling reclassification of some VUSs as likely pathogenic.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Public, Environmental & Occupational Health
Elizabeth D. Paratz, Alexander van Heusden, Karen Smith, Jocasta Ball, Dominica Zentner, Natalie Morgan, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Sarah Parsons, Dion Stub, Andre La Gerche
Summary: This study aimed to determine whether young rural Australians have higher rates or different underlying causes of out-of-hospital cardiac arrest (OHCA). The study found that young people in rural areas have higher rates of OHCA, but rural status does not influence the causes of cardiac arrest or known cardiovascular risk factor burden.
AUSTRALIAN JOURNAL OF RURAL HEALTH
(2022)
Article
Cardiac & Cardiovascular Systems
Elizabeth D. Paratz, Alexander van Heusden, Dominica Zentner, Natalie Morgan, Karen Smith, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Sarah Parsons, Dion Stub, Andre La Gerche
Summary: The causes, circumstances, and preventability of young sudden cardiac arrest remain uncertain. This study found that approximately half of young out-of-hospital cardiac arrests (OHCAs) have a cardiac cause, with coronary disease and drug toxicity being the most common etiologies. OHCAs are more likely to occur during sleep, with a disproportionate occurrence during exercise compared to typical Australian days. Interestingly, most patients with a cardiac cause of OHCA had no standard modifiable cardiovascular risk factors and had not reported cardiac symptoms or been evaluated by a cardiologist prior to their OHCA.
Article
Medicine, General & Internal
Elizabeth D. Paratz, Alexander van Heusden, Jocasta Ball, Karen Smith, Dominica Zentner, Natalie Morgan, Sarah Parsons, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Dion Stub, Andre La Gerche
Summary: Administrative coding of out-of-hospital cardiac arrest in young patients is heterogeneous, with nearly one-third of diagnoses including neither the cardiac arrest nor any underlying cause. Patients receiving a noninformative diagnosis were more likely to have survived the cardiac arrest or been referred for forensic assessment and had a longer length of stay.
INTERNAL MEDICINE JOURNAL
(2023)
Article
Genetics & Heredity
Charlotte Burns, Laura Yeates, Joanna Sweeting, Christopher Semsarian, Jodie Ingles
Summary: Genetic testing for hypertrophic cardiomyopathy is crucial for management, but communication of test results remains a barrier. This study evaluated the knowledge and communication of HCM risk, and found that communication among HCM families is challenging, with a significant number of at-risk relatives not informed of a genetic result.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Cardiac & Cardiovascular Systems
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q. C. M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D. H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H. M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G. A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A. M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles
Summary: This study investigated the clinical characteristics, genotype, and genetics of arrhythmogenic cardiomyopathy caused by truncating variants in the desmoplakin gene (DSPtv). The results showed that the location of DSPtv and individual disease status were independent risk factors for ventricular arrhythmia. Furthermore, the study found that disease-associated gene variants were more likely to occur in important regions of the DSP gene compared to the control group. This study highlights the importance of gene variants in arrhythmogenic cardiomyopathy and provides critical insights for clinical management.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Sarah Abou Alaiwi, Thomas M. Roston, Peter Marstrand, Brian Lee Claggett, Victoria N. Parikh, Adam S. Helms, Jodie Ingles, Rachel Lampert, Neal K. Lakdawala, Michelle Michels, Anjali T. Owens, Joseph W. Rossano, Sara Saberi, Dominic J. Abrams, Euan A. Ashley, Christopher Semsarian, John C. Stendahl, James S. Ware, Erin Miller, Thomas D. Ryan, Mark W. Russell, Sharlene M. Day, Iacopo Olivotto, Christoffer R. Vissing, Carolyn Y. Y. Ho
Summary: A study on children diagnosed with hypertrophic cardiomyopathy (HCM) found that they have a higher risk of developing left ventricular systolic dysfunction (LVSD) compared to adult patients. This study highlights the importance of careful surveillance for LVSD in children with HCM, especially during their transition to adult care.
Article
Genetics & Heredity
Lieke van den Heuvel, Judy Do, Laura Yeates, Charlotte Burns, Chris Semsarian, Jodie Ingles
Summary: Sudden cardiac death (SCD) in young people is a devastating event, often caused by genetic heart diseases. This study explored the experiences of family members who underwent cardiogenetic evaluation after SCD. The results highlighted the importance of coordinated care, including psychological support, to adequately support these families.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Cardiac & Cardiovascular Systems
Michael P. Gray, Yemima Berman, Giordano Botta, Stuart M. Grieve, Amy Ho, Jessica Hu, Karice Hyun, Jodie Ingles, Garry Jennings, Gary Kilov, Jean-Frederic Levesque, Peter Meikle, Julie Redfern, Tim Usherwood, Stephen T. Vernon, Stephen J. Nicholls, Gemma A. Figtree, P. P. P. C. A. D. Collaborators N. S. W. PPP CAD Collaborators NSW
Summary: This study aims to use a novel clinical pathway incorporating a coronary artery disease (CAD) polygenic risk score (PRS) to identify individuals with subclinical CAD and triage low or moderate risk individuals for noninvasive coronary imaging, in order to improve risk prediction and treatment decisions. The study will evaluate the ability of the PRS to identify subclinical CAD and examine its impact on risk factor management, pharmacotherapy utilization, and participant experience.
AMERICAN HEART JOURNAL
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Jodie Ingles, Daniel G. MacArthur
EUROPEAN HEART JOURNAL
(2023)
Article
Genetics & Heredity
Yuchen Chang, Julie Wacker, Jodie Ingles, Ivan Macciocca, Ingrid King, Christopher Semsarian, Julie Mcgaughran, Robert G. Weintraub, Richard D. Bagnall
Summary: TBX20 is a cardiac transcription factor associated with atrial septal defects. Loss-of-function variants in TBX20 have been found in families with left ventricular non-compaction cardiomyopathy (LVNC). We report four families with TBX20 loss-of-function variants that segregate with LVNC. Our data strengthen the association between TBX20 loss-of-function variants and LVNC, and support the inclusion of TBX20 in genetic testing for LVNC.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Emma S. Singer, Joshua Crowe, Mira Holliday, Julia C. Isbister, Sean Lal, Natalie Nowak, Laura Yeates, Charlotte Burns, Sulekha Rajagopalan, Ivan Macciocca, Ingrid King, Julie Wacker, Jodie Ingles, Robert G. Weintraub, Christopher Semsarian, Richard D. Bagnall
Summary: Our study highlights the significant role of splice-disrupting variants in inherited heart disease, and demonstrates that analysis of blood RNA can confirm splicing outcomes and support classification of variant pathogenicity.
NPJ GENOMIC MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Julia C. Isbister, Belinda Gray, Sophie Offen, Laura Yeates, Chris Naoum, Caroline Medi, Hariharan Raju, Christopher Semsarian, Rajesh Puranik, Raymond W. Sy
Summary: This study utilized cardiac magnetic resonance imaging to longitudinally assess patients with Brugada syndrome. It found that structural changes, specifically focal fibrosis, can develop over time in a significant proportion of patients. These findings have implications for understanding the pathological substrate and longitudinal evaluation of Brugada syndrome patients.
Article
Health Care Sciences & Services
Alexandra Butters, Bianca Blanch, Anna Kemp-Casey, Judy Do, Laura Yeates, Felicity Leslie, Christopher Semsarian, Lee Nedkoff, Tom Briffa, Jodie Ingles, Joanna Sweeting
Summary: This study aims to link the Australian Genetic Heart Disease (AGHD) Registry with routinely collected health data sets in order to investigate the health care use patterns of individuals with a genetic heart disease and their at-risk relatives. This linked data set will enable the examination of differences in outcomes and health care use due to disease, sex, socioeconomic status, and other factors.
JMIR RESEARCH PROTOCOLS
(2023)