Article
Biochemistry & Molecular Biology
Elena Garcia-Martin, Jose A. G. Agundez, Javier Gomez-Tabales, Julian Benito-Leon, Jorge Millan-Pascual, Maria Diaz-Sanchez, Patricia Calleja, Laura Turpin-Fenoll, Hortensia Alonso-Navarro, Esteban Garcia-Albea, Jose Francisco Plaza-Nieto, Felix Javier Jimenez-Jimenez
Summary: This study found no association between the CD4 rs1922452, CD4 rs951818, and LAG3 rs870849 gene variants and the risk of developing MS in the Caucasian Spanish population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Medicine, Research & Experimental
Vassilios M. Vazgiourakis, Maria I. Zervou, Louis Papageorgiou, Dimitrios Chaniotis, Demetrios A. Spandidos, Dimitrios Vlachakis, Elias Eliopoulos, George N. Goulielmos
Summary: Cardiovascular disease refers to a range of pathological conditions impacting the heart or blood vessels, including sequelae arising from damaged blood vessels in other organs. Atherosclerosis, a chronic inflammatory disease, is the main cause of coronary artery disease, peripheral vascular disease, heart attack, stroke, and renal pathology. Endometriosis, a common gynecological condition, is characterized by ectopic growth of endometrial tissue outside the uterus, affecting up to 10% of women of childbearing age. Recent epidemiological data suggests a link between endometriosis and the risk of developing cardiovascular disease. Shared genetic factors may explain the observed similarities in molecular and cellular pathways of both disorders.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2023)
Article
Medicine, General & Internal
Elena Garcia-Martin, Pau Pastor, Javier Gomez-Tabales, Hortensia Alonso-Navarro, Ignacio Alvarez, Mariateresa Buongiorno, Maria de las Olas Cerezo-Arias, Miquel Aguilar, Jose A. G. Agundez, Felix Javier Jimenez-Jimenez
Summary: This study investigates the association between single-nucleotide variations in the LAG3 and CD4 genes and the risk of Parkinson's disease in a Caucasian Spanish population. The findings suggest that CD4 rs1922452 and CD4 rs951818 polymorphisms may be associated with the risk of PD.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Biochemistry & Molecular Biology
Elena Garcia-Martin, Santiago Navarro-Munoz, Pedro Ayuso, Christopher Rodriguez, Mercedes Serrador, Hortensia Alonso-Navarro, Marisol Calleja, Francisco Navacerrada, Laura Turpin-Fenoll, Marta Recio-Bermejo, Rafael Garcia-Ruiz, Jorge Millan-Pascual, Jose Francisco Plaza-Nieto, Esteban Garcia-Albea, Jose A. G. Agundez, Felix Javier Jimenez-Jimenez
Summary: This study examined the possible association between common variants in the LAG3/CD4 genes and the risk of developing migraine. The results indicate that there is no significant correlation between these gene variants and the risk of migraine in the Caucasian Spanish population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Sport Sciences
Elliott C. R. Hall, Philipp Baumert, Jon Larruskain, Susana M. Gil, Josean A. Lekue, Edgardo Rienzi, Sacha Moreno, Marcio Tannure, Conall F. Murtagh, Jack D. Ade, Paul Squires, Patrick Orme, Liam Anderson, Thomas E. Brownlee, Craig M. Whitworth-Turner, James P. Morton, Barry Drust, Alun G. Williams, Robert M. Erskine
Summary: This study is the first to demonstrate that a genetic association exists with injury prevalence in ASP, which differs according to maturity status.
SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS
(2022)
Article
Dentistry, Oral Surgery & Medicine
Mingming Li, Yuhan Zhang, Aopeng Zhang, He Cai, Rui Zhang, Ran Cheng, Tao Hu
Summary: This study found that single gene polymorphisms in A20 and IL-10 genes were not associated with the risk of periodontitis. NF-kappa B1 gene polymorphism indirectly affects susceptibility to periodontitis. The combined effect of anti-inflammatory gene polymorphisms (A20 and IL-10) correlated with the decreased risk of periodontitis.
CLINICAL ORAL INVESTIGATIONS
(2023)
Article
Genetics & Heredity
Elisabeth A. Rosenthal, David R. Crosslin, Adam S. Gordon, David S. Carrell, Ian B. Stanaway, Eric B. Larson, Jane Grafton, Wei-Qi Wei, Joshua C. Denny, Qi-Ping Feng, Amy S. Shah, Amy C. Sturm, Marylyn D. Ritchie, Jennifer A. Pacheco, Hakon Hakonarson, Laura J. Rasmussen-Torvik, John J. Connolly, Xiao Fan, Maya Safarova, Iftikhar J. Kullo, Gail P. Jarvik
Summary: Analyzing a mixed-ancestry cohort, associations between several genes and triglyceride levels were replicated, while associations with other genes were not replicated due to limited sample size and missing drug information. Challenges exist in using electronic health record data for analysis.
BMC MEDICAL GENOMICS
(2021)
Review
Physiology
Roddy Walsh, Sean J. Jurgens, Jeanette Erdmann, Connie R. Bezzina
Summary: Genome-wide association studies (GWAS) have identified common genetic variants associated with traits and diseases, providing insights into genetic architecture, correlations across traits and diseases, and potential clinical applications. The utilization of GWAS in cardiovascular diseases and associated phenotypic traits has been facilitated by multicenter registry studies and large biobank data sets. However, challenges still exist in this field and need to be addressed.
PHYSIOLOGICAL REVIEWS
(2023)
Review
Cardiac & Cardiovascular Systems
Ida Juul Rasmussen, Ruth Frikke-Schmidt
Summary: Dementia is a major global challenge, but 40% of cases can be prevented. Prevention measures, such as reducing cardiovascular risk factors, are crucial for reducing the incidence of dementia. Genome-wide association studies can be useful for identifying novel pathogenic pathways and high-risk individuals.
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Yinan Zheng, Brian Joyce, Shih-Jen Hwang, Jiantao Ma, Lei Liu, Norrina Allen, Amy Krefman, Jun Wang, Tao Gao, Drew Nannini, Haixiang Zhang, David R. Jacobs, Myron Gross, Myriam Fornage, Cora E. Lewis, Pamela J. Schreiner, Stephen Sidney, Dongquan Chen, Philip Greenland, Daniel Levy, Lifang Hou, Donald Lloyd-Jones
Summary: This study found that cardiovascular health from young adulthood is associated with midlife epigenetic programming. The findings demonstrate the role of epigenetic markers in response to cardiovascular health changes and highlight the potential of epigenomic markers for precision cardiovascular disease prevention and earlier detection of subclinical cardiovascular disease.
Article
Psychology, Clinical
Gloria Hoi-Yee Li, Ching-Lung Cheung, Albert Kar-Kin Chung, Bernard Man-Yung Cheung, Ian Chi-Kei Wong, Marcella Lei Yee Fok, Philip Chun-Ming Au, Pak-Chung Sham
Summary: This study aims to investigate the causal relationship between genetic predisposition to depression and cardiovascular disease (CVD). The results show a genetic correlation between depression and myocardial infarction (MI) and atrial fibrillation (AF), and causality between genetically doubling the odds of depression and increased risk of CAD and MI. Adjustment for blood lipid levels and smoking status attenuated the causal relationship between depression and CAD/MI.
PSYCHOLOGICAL MEDICINE
(2022)
Article
Peripheral Vascular Disease
Felix Vaura, Anni Kauko, Karri Suvila, Aki S. Havulinna, Nina Mars, Veikko Salomaa, Susan Cheng, Teemu Niiranen
Summary: Genetic risk scores can improve the prediction of hypertension risk, especially early-onset hypertension, which is associated with significant cardiovascular disease risk. Combining BP PRS with traditional risk factors can enhance hypertension prediction strategies, as demonstrated in the study.
Article
Clinical Neurology
Gad Abraham, Loes Rutten-Jacobs, Michael Inouye
Summary: Genetic factors play a significant role in the prediction of cardiovascular diseases, including stroke, and the development of polygenic risk scores has shown potential to improve risk prediction for stroke.
Article
Cardiac & Cardiovascular Systems
Anni A. Antikainen, Niina Sandholm, David-Alexandre Tregouet, Romain Charmet, Amy Jayne McKnight, Tarunveer S. Ahluwalia, Anna Syreeni, Erkka Valo, Carol Forsblom, Daniel Gordin, Valma Harjutsalo, Samy Hadjadj, Alexander P. Maxwell, Peter Rossing, Per-Henrik Groop
Summary: This study aimed to identify genetic loci increasing coronary artery disease (CAD) susceptibility in individuals with type 1 diabetes (T1D). Two loci, CDKN2B-AS1 and DEFB127, were found to be significantly associated with CAD in T1D individuals. Additionally, the study explored the function of other genetic loci and found that general population risk variants were modestly but significantly associated with CAD in T1D.
CARDIOVASCULAR RESEARCH
(2021)
Article
Psychology, Multidisciplinary
Abigail R. R. Sanders, Neha Bhongir, Bridgett vonHoldt, Matteo Pellegrini
Summary: Behavioral traits in dogs, such as energy and fear, can be predicted by DNA methylation, but not by single nucleotide polymorphisms (SNPs). This study expands our understanding of behavioral epigenetics and provides a proof of concept for future research in this field.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Peripheral Vascular Disease
Norm R. C. Campbell, Paul K. Whelton, Marcelo Orias, Richard D. Wainford, Francesco P. Cappuccio, Nicole Ide, Bruce Neal, Jennifer Cohn, Laura K. Cobb, Jacqui Webster, Kathy Trieu, Feng J. He, Rachael M. McLean, Adriana Blanco-Metzler, Mark Woodward, Nadia Khan, Yoshihiro Kokubo, Leo Nederveen, JoAnne Arcand, Graham A. MacGregor, Mayowa O. Owolabi, Liu Lisheng, Gianfranco Parati, Daniel T. Lackland, Fadi J. Charchar, Bryan Williams, Maciej Tomaszewski, Cesar A. Romero, Beatriz Champagne, Mary R. L'Abbe, Michael A. Weber, Markus P. Schlaich, Agnes Fogo, Valery L. Feigin, Rufus Akinyemi, Felipe Inserra, Bindu Menon, Marcia Simas, Mario Fritsch Neves, Krassimira Hristova, Carolyn Pullen, Sanjay Pandeya, Junbo Ge, Jorge E. Jalil, Ji-Guang Wang, Jiri Wideimsky, Reinhold Kreutz, Ulrich Wenzel, Michael Stowasser, Manuel Arango, Athanasios Protogerou, Eugenia Gkaliagkousi, Flavio Danni Fuchs, Mansi Patil, Andy Wai-Kwong Chan, Janos Nemcsik, Ross T. Tsuyuki, Sanjeevi Nathamuni Narasingan, Nizal Sarrafzadegan, Maria Eugenia Ramos, Natalie Yeo, Hiromi Rakugi, Agustin J. Ramirez, Guillermo Alvarez, Adel Berbari, Cho-il Kim, Sang-Hyun Ihm, Yook-Chin Chia, Tsolmon Unurjargal, Hye Kyung Park, Kolawole Wahab, Helen McGuire, Naranjargal J. Dashdorj, Mohammed Ishaq, Deborah Ignacia D. Ona, Leilani B. Mercado-Asis, Aleksander Prejbisz, Marianne Leenaerts, Carla Simao, Fernando Pinto, Bader Ali Almustafa, Jonas Spaak, Stefan Farsky, Dragan Lovic, Xin-Hua Zhang
JOURNAL OF HUMAN HYPERTENSION
(2023)
Article
Cardiac & Cardiovascular Systems
Jan Gehlen, Anja Stundl, Radoslaw Debiec, Federica Fontana, Markus Krane, Dinara Sharipova, Christopher P. Nelson, Baravan Al-Kassou, Ann Sophie Giel, Jan Malte Sinning, Christopher M. H. Bruenger, Carolin F. Zelck, Laura L. Koebbe, Peter S. Braund, Thomas R. Webb, Simon Hetherington, Stephan Ensminger, Buntaro Fujita, Salah A. Mohamed, Malakh Shrestha, Heike Krueger, Matthias Siepe, Fabian Alexander Kari, Peter Nordbeck, Larissa Buravezky, Malte Kelm, Verena Veulemans, Matti Adam, Stephan Baldus, Karl Ludwig Laugwitz, Yannick Haas, Matthias Karck, Uwe Mehlhorn, Lars Oliver Conzelmann, Ingo Breitenbach, Corinna Lebherz, Paul Urbanski, Won Keun Kim, Joscha Kandels, David Ellinghaus, Ulrike Nowak-Goettl, Per Hoffmann, Felix Wirth, Stefanie Doppler, Harald Lahm, Martina Dressen, Moritz von Scheidt, Katharina Knoll, Thorsten Kessler, Christian Hengstenberg, Heribert Schunkert, Georg Nickenig, Markus M. Noethen, Aidan P. Bolger, Salim Abdelilah-Seyfried, Nilesh J. Samani, Jeanette Erdmann, Teresa Trenkwalder, Johannes Schumacher
Summary: This study provides deeper insights into the genetic risk architecture of bicuspid aortic valve (BAV) disease, including both single-marker and polygenic levels. The study identified a new risk locus and confirmed previously reported risk loci. Additionally, the study revealed that the transcriptome profile in endothelial cells plays a major role in the pathology of BAV.
CARDIOVASCULAR RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Yutang Wang, Yan Fang, Dianna J. Magliano, Fadi J. Charchar, Christopher G. Sobey, Grant R. Drummond, Jonathan Golledge
Summary: This study investigates the association between fasting triglycerides and cardiovascular disease mortality. The results show that higher triglyceride levels are associated with an increased risk of CVD mortality in patients with diabetes, but not in those without diabetes. This suggests that future treatments targeting triglyceride reduction should focus on patients with diabetes.
CARDIOVASCULAR RESEARCH
(2023)
Review
Cardiac & Cardiovascular Systems
Aletta E. Schutte, Tazeen H. Jafar, Neil R. Poulter, Albertino Damasceno, Nadia A. Khan, Peter M. Nilsson, Jafar Alsaid, Dinesh Neupane, Kazuomi Kario, Hind Beheiry, Sofie Brouwers, Dylan Burger, Fadi J. Charchar, Myeong Chan Cho, Tomasz J. Guzik, Ghazi F. Haji Al-Saedi, Muhammad Ishaq, Hiroshi Itoh, Erika S. W. Jones, Taskeen Khan, Yoshihiro Kokubo, Praew Kotruchin, Elizabeth Muxfeldt, Augustine Odili, Mansi Patil, Udaya Ralapanawa, Cesar A. Romero, Markus P. Schlaich, Abdulla Shehab, Ching Siew Mooi, U. Muscha Steckelings, George Stergiou, Rhian M. Touyz, Thomas Unger, Richard D. Wainford, Ji-Guang Wang, Bryan Williams, Brandi M. Wynne, Maciej Tomaszewski
Summary: Hypertension is the leading cause of preventable death globally, but there are significant challenges in its detection, treatment, and control, particularly in low-resource settings. Disparities based on resources, sociodemographic environment, and race contribute to the disproportionate burden of hypertension-related outcomes. Immediate action is needed to address these challenges and reduce inequities in hypertension care.
CARDIOVASCULAR RESEARCH
(2023)
Article
Multidisciplinary Sciences
Yutang Wang, Yan Fang, Paul K. Witting, Fadi J. Charchar, Christopher G. Sobey, Grant R. Drummond, Jonathan Golledge
Summary: The study investigated the relationship between dietary intake of major types of fatty acids and heart disease mortality in a general adult cohort. The findings showed that saturated and monounsaturated fatty acids were associated with heart disease mortality, while a higher intake of polyunsaturated fatty acids was associated with a lower risk of heart disease mortality. The study suggests the importance of increasing dietary intake of polyunsaturated fatty acids in the general population.
SCIENTIFIC REPORTS
(2023)
Meeting Abstract
Peripheral Vascular Disease
Priscilla Ribeiro Prestes, Michelle Carla Maier, Sean Byars, Stephen B. Harrap, Fadi J. Charchar
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
David Scannali, Xiaoguang Xu, James M. Eales, Maciej Drzal, Timothy Rainey, Pawel Bogdanski, Wojciech Wystrychowski, Joanna Zywiec, Ewa Zukowska Szczechowska, Tomasz J. Guzik, Andrew P. Morris, Fadi J. Charchar, Maciej Tomaszewski
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
Olutope Arinola Akinnibosun, James Eales, Huy Nguyen, Pawel Bogdanski, Ewa Zukowska Szczechowska, Matthew Denniff, John Dromer, Maciej Tomaszewski, Fadi Charchar
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
Olutope Arinola Akinnibosun, James Eales, Huy Nguyen, Pawel Bogdanski, Ewa Zukowska Szczechowska, Matthew Denniff, Maciej Tomaszewski, Fadi Charchar
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
Sean Byars, Priscilla Prestes, Vara Suphapimol, Nathan De Vries, Mariana Del Rosso Le Melo, Michelle Maier, Nilesh Samani, Jennifer Wilkinson Berka, Andrew Allen, Fadi Charchar, Stephen Harrap
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
Fadi Charchar
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
Maciej Szymon Drzal, Xiaoguang Xu, James M. Eales, David Scannali, Timothy Rainey, Pawel Bogdanski, Wojciech Wystrychowski, Ewa Zukowska Szczechowska, Joanna Zywiec, Tomasz J. Guzik, Andrew P. Morris, Fadi J. Charchar, Maciej Tomaszewski
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
James M. Eales, Pawel Bogdanski, Wojciech Wystrychowski, Ewa Zukowska Szczechowska, Joanna Zywiec, Adrian S. Woolf, Nilesh J. Samani, Bernard Keavney, Fadi J. Charchar, Maciej Tomaszewski
JOURNAL OF HYPERTENSION
(2023)
Meeting Abstract
Peripheral Vascular Disease
Xiaoguang Xu, Chachrit Khunsriraksakul, James M. Eales, Havell Markus, Lida Wang, Sushant Saluja, Abigail Lay, Tomasz J. Guzik, Andrew P. Morris, Dajiang J. Liu, Fadi J. Charchar, Maciej Tomaszewski
JOURNAL OF HYPERTENSION
(2023)