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JOURNAL ARTICLE
Soo Heon Kwak, Ryan B Hernandez-Cancela, Daniel A DiCorpo, David E Condon, Jordi Merino, Peitao Wu, Jennifer A Brody, Jie Yao, Xiuqing Guo, Fariba Ahmadizar, Mariah Meyer, Murat Sincan, Josep M Mercader, Sujin Lee, Jeffrey Haessler, Ha My T Vy, Zhaotong Lin, Nicole D Armstrong, Shaopeng Gu, Noah L Tsao, Leslie A Lange, Ningyuan Wang, Kerri L Wiggins, Stella Trompet, Simin Liu, Ruth J F Loos, Renae Judy, Philip H Schroeder, Natalie R Hasbani, Maxime M Bos, Alanna C Morrison, Rebecca D Jackson, Alexander P Reiner, JoAnn E Manson, Ninad S Chaudhary, Lynn K Carmichael, Yii-Der Ida Chen, Kent D Taylor, Mohsen Ghanbari, Joyce van Meurs, Achilleas N Pitsillides, Bruce M Psaty, Raymond Noordam, Ron Do, Kyong Soo Park, J Wouter Jukema, Maryam Kavousi, Adolfo Correa, Stephen S Rich, Scott M Damrauer, Catherine Hajek, Nam H Cho, Marguerite R Irvin, James S Pankow, Girish N Nadkarni, Robert Sladek, Mark O Goodarzi, Jose C Florez, Daniel I Chasman, Susan R Heckbert, Charles Kooperberg, Josée Dupuis, Rajeev Malhotra, Paul S de Vries, Ching-Ti Liu, Jerome I Rotter, James B Meigs
OBJECTIVE: To identify genetic risk factors for incident cardiovascular disease (CVD) among people with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: We conducted a multiancestry time-to-event genome-wide association study for incident CVD among people with T2D. We also tested 204 known coronary artery disease (CAD) variants for association with incident CVD. RESULTS: Among 49,230 participants with T2D, 8,956 had incident CVD events (event rate 18...
April 23, 2024: Diabetes Care
#2
JOURNAL ARTICLE
Danielle Novetsky Friedman, Joanne F Chou, Jeanne M Clark, Chaya S Moskowitz, Jennifer S Ford, Gregory T Armstrong, Nidha Z Mubdi, Aaron McDonald, Paul C Nathan, Charles A Sklar, Lakshmi V Ramanathan, Leslie L Robison, Kevin C Oeffinger, Emily S Tonorezos
BACKGROUND: Obesity is prevalent in childhood cancer survivors and interacts with cancer treatments to potentiate risk for cardiovascular (CV) death. We tested a remote weight-loss intervention that was effective among adults with CV risk factors in a cohort of adult survivors of childhood acute lymphoblastic leukemia (ALL) with overweight/obesity. METHODS: In this phase 3 efficacy trial, survivors of ALL enrolled in the Childhood Cancer Survivor Study with body mass index (BMI)≥25 kg/m2 were randomized to a remotely-delivered weight-loss intervention versus self-directed weight loss, stratified by history of cranial radiotherapy (CRT)...
April 23, 2024: Cancer Epidemiology, Biomarkers & Prevention
#3
JOURNAL ARTICLE
Christopher P Jordan, Akos Berthold, Jason Bonomo
PURPOSE OF REVIEW: The incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection. RECENT FINDINGS: As many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance...
April 22, 2024: Current Opinion in Cardiology
#4
REVIEW
Gissette Reyes-Soffer, Calvin Yeang, Erin D Michos, Wess Boatwright, Christie M Ballantyne
High levels of lipoprotein(a) [Lp(a)] are causal for atherosclerotic cardiovascular disease (ASCVD). Lp(a) is the most prevalent inherited dyslipidemia and strongest genetic ASCVD risk factor. This risk persists in the presence of at target, guideline-recommended, LDL-C levels and adherence to lifestyle modifications. Epidemiological and genetic evidence supporting its causal role in ASCVD and calcific aortic stenosis continues to accumulate, although various facets regarding Lp(a) biology (genetics, pathophysiology, and expression across race/ethnic groups) are not yet fully understood...
June 2024: American journal of preventive cardiology
#5
JOURNAL ARTICLE
Leticia Camargo Tavares, Esteban Alexander Lopera-Maya, Ferdinando Bonfiglio, Tenghao Zheng, Trishla Sinha, Francine Zanchetta Marques, Alexandra Zhernakova, Serena Sanna, Mauro D'Amato
BACKGROUND & AIMS: Irritable bowel syndrome (IBS) shows genetic predisposition, and large-scale genome-wide association studies (GWAS) are emerging, based on heterogeneous disease definitions. We aimed at investigating the genetic architecture of IBS defined according to gold-standard Rome Criteria. METHODS: We conducted GWAS meta-analyses of Rome III IBS and its subtypes in 24,735 IBS cases and 77,149 asymptomatic controls from two independent European cohorts (UK Biobank and Lifelines)...
April 18, 2024: Cellular and Molecular Gastroenterology and Hepatology
#6
Hayden McColl, Rachael Cordina, Sean Lal, Matthew Parker, Imre Hunyor, Caroline Medi, Belinda Gray
BACKGROUND: Desmoplakin (DSP) cardiomyopathy is a rare genetic condition characterized by repeated inflammatory myocardial injury and is associated with ventricular arrhythmia and sudden cardiac death. Diagnosis is challenging and requires a combination of genetic testing and advanced imaging techniques. CASE SUMMARY: We present the case of a 38-year-old woman with recurrent episodes of subclinical myocarditis. Investigation using cardiac magnetic resonance imaging (cMRI) and genetic testing revealed a diagnosis of DSP cardiomyopathy...
March 2024: European Heart Journal. Case Reports
#7
JOURNAL ARTICLE
Roman Tremmel, Valeria Martínez Pereyra, Incifer Broders, Elke Schaeffeler, Per Hoffmann, Markus M Nöthen, Raffi Bekeredjian, Udo Sechtem, Matthias Schwab, Peter Ong
BACKGROUND: Coronary artery spasm (CAS) is a frequent finding in patients presenting with angina pectoris. Although the pathogenesis of CAS is incompletely understood, previous studies suggested a genetic contribution. Our study aimed to elucidate genetic variants in a cohort of European patients with angina and unobstructed coronary arteries who underwent acetylcholine (ACh) provocation testing. METHODS: A candidate association analysis of 208 genes previously associated with cardiovascular conditions was performed using genotyped and imputed variants in patients grouped in epicardial (focal, diffuse) CAS (n = 119) and microvascular CAS (n = 87)...
April 18, 2024: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
#8
REVIEW
Anne-Lotte C J van der Lingen, Tom E Verstraelen, Lieselot van Erven, Joan G Meeder, Dominic A Theuns, Kevin Vernooy, Arthur A M Wilde, Alexander H Maass, Cornelis P Allaart
International guidelines recommend implantation of an implantable cardioverter-defibrillator (ICD) in non-ischaemic cardiomyopathy (NICM) patients with a left ventricular ejection fraction (LVEF) below 35% despite optimal medical therapy and a life expectancy of more than 1 year with good functional status. We propose refinement of these recommendations in patients with NICM, with careful consideration of additional risk parameters for both arrhythmic and non-arrhythmic death. These additional parameters include late gadolinium enhancement on cardiac magnetic resonance imaging and genetic testing for high-risk genetic variants to further assess arrhythmic risk, and age, comorbidities and sex for assessment of non-arrhythmic mortality risk...
April 18, 2024: Netherlands Heart Journal
#9
JOURNAL ARTICLE
Malihe Aghasizadeh, Asieh Ahmadi Hoseini, Reza Sahebi, Tooba Kazemi, Parisa Asadiyan-Sohan, Habibollah Esmaily, Sara Samadi, Amir Avan, Gordon A Ferns, Saeede Khosravi, Hamideh Ghazizadeh, Ebrahim Miri-Moghaddam, Majid Ghayour-Mobarhan
BACKGROUND: Loss-of-function (LOF) variants of the angiopoietin-like 3 (ANGPTL3) gene are reported to be associated with serum triglyceride (TG) and high-density lipoprotein cholesterol (HDL-C) concentrations and thereby affect the risk of cardiovascular disease (CVD). OBJECTIVE: In the present study, we examined the association of rs10789117 in the ANGPTL 3 gene locus and the risk of CVD in the group of people who were part of the Mashhad-Stroke and Heart-Atherosclerotic-Disorders (MASHAD) cohort...
April 2024: Molecular Genetics & Genomic Medicine
#10
REVIEW
Hossam Lababidi, Ghena Lababidi, Mahmoud Al Rifai, Khurram Nasir, Sadeer Al-Kindi
Cardiovascular disease (CVD) is the leading cause of mortality worldwide. Recent evidence suggests Arab Americans, individuals with ancestry from Arabic-speaking countries, have an elevated risk for CVD compared to other ethnicities in the US. However, research focusing specifically on CVD in this population is limited. This literature review synthesizes studies investigating CVD prevalence, risk factors, and outcomes in Arab Americans. Multiple studies found higher rates of coronary heart disease, cerebrovascular disease, and hypertension compared to non-Hispanic White participants...
June 2024: American journal of preventive cardiology
#11
JOURNAL ARTICLE
Z Alireza, M Maleeha, M Kaikkonen, V Fortino
Machine learning (ML) methods are increasingly becoming crucial in genome-wide association studies for identifying key genetic variants or SNPs that statistical methods might overlook. Statistical methods predominantly identify SNPs with notable effect sizes by conducting association tests on individual genetic variants, one at a time, to determine their relationship with the target phenotype. These genetic variants are then used to create polygenic risk scores (PRSs), estimating an individual's genetic risk for complex diseases like cancer or cardiovascular disorders...
April 16, 2024: Journal of Translational Medicine
#12
JOURNAL ARTICLE
Martine Paquette, Mark Trinder, Simon-Pierre Guay, Liam R Brunham, Alexis Baass
CONTEXT: Dysbetalipoproteinemia (DBL) is a multifactorial disorder that disrupts the normal metabolism of remnant lipoproteins, causing increased risk of cardiovascular disease. However, establishing a proper diagnosis is difficult and the true prevalence of the disease in the general population remains unknown. OBJECTIVE: The objectives were to study the prevalence of the disease and to validate the performance of different clinical diagnostic criteria in a large population-based cohort...
April 16, 2024: Journal of Clinical Endocrinology and Metabolism
#13
Anushri R Patil, Snehal Samal, Nikita H Seth
Down syndrome (DS) is a genetic condition developing from a supplementary chromosome 21, referred to as trisomy 21. It ranks among the most prevalent developmental disabilities. People with DS often live inactive lifestyles, not meeting the weekly physical activity guidelines. With age, they face increased risks of cardiovascular disease and osteoporosis, as well as neurological and orthopedic concerns. Physiotherapy is especially important for improving balance, coordination, strength, and endurance in adults over the age of 50...
March 2024: Curēus
#14
So-Young Lee, Hoon Seok Kim, Mi-Hyang Jung, Suyon Chang, Myungshin Kim, Jong-Chan Youn, Woo-Baek Chung, Hae Ok Jung
The prevention and management of cancer therapy-related cardiac dysfunction (CTRCD) have become increasingly important. Recent studies have revealed the crucial role of genetics in determining the susceptibility to development of CTRCD. We present a case of a 65-year-old woman with breast cancer who developed recurrent CTRCD following low-dose chemotherapy, despite lacking conventional cardiovascular risk factors. Her medical history included anthracycline-associated cardiomyopathy, and her condition deteriorated significantly after treatment with HER2-targeted therapies...
April 14, 2024: ESC Heart Failure
#15
JOURNAL ARTICLE
Hong-Liang Zhao, Yang You, Yan Tian, Luyan Wang, Yongqiang An, Guoqiang Zhang, Chang Shu, Mingxin Yu, Yihua Zhu, Qian Li, Yanwei Zhang, Ningling Sun, Songnian Hu, Gang Liu
BACKGROUND: Dyslipidemia, a significant risk factor for atherosclerotic cardiovascular disease (ASCVD), is influenced by genetic variations, particularly those in the low-density lipoprotein receptor (LDLR) gene. This study aimed to elucidate the effects of LDLR polymorphisms on baseline serum lipid levels and the therapeutic efficacy of atorvastatin in an adult Han population in northern China with dyslipidemia. METHODS: In this study, 255 Han Chinese adults receiving atorvastatin therapy were examined and followed up...
April 14, 2024: Lipids in Health and Disease
#16
REVIEW
Fernanda Isadora Corona-Meraz, Mónica Vázquez-Del Mercado, Flavio Sandoval-García, Jesus-Aureliano Robles-De Anda, Alvaro-Jovanny Tovar-Cuevas, Roberto-Carlos Rosales-Gómez, Milton-Omar Guzmán-Ornelas, Daniel González-Inostroz, Miguel Peña-Nava, Beatriz-Teresita Martín-Márquez
Metabolic syndrome (MetS) is a group of physiological abnormalities characterized by obesity, insulin resistance (IR), and hypertriglyceridemia, which carry the risk of developing cardiovascular disease (CVD) and type 2 diabetes (T2D). Immune and metabolic alterations have been observed in MetS and are associated with autoimmune development. Systemic lupus erythematosus (SLE) is an autoimmune disease caused by a complex interaction of environmental, hormonal, and genetic factors and hyperactivation of immune cells...
March 29, 2024: Journal of Clinical Medicine
#17
JOURNAL ARTICLE
Hanzhang Xie, Yiyang Liu, Xiaohan Gu, Shuhan Liu, Yimeng Fang, Wenjie Zhong, Yinan Zhang, Shunyu Yao
BACKGROUND: In observational and prospective cohort studies, intake of sugar-sweetened beverages (SSBs) and pure fruit juice (PFJ) has been associated with cardiovascular disease (CVD). Still, the causality of the connection has not yet been determined. Our objective was to uncover the relationship between SSBs/PFJ and CVD. METHODS: Genetically predicted causal associations between SSBs/PFJ (obtained in a published genome-wide association study) and six common CVDs (atrial fibrillation (AF), angina, heart failure (HF), acute myocardial infarction, hypertension, and coronary atherosclerosis) were assessed using MR analytic modeling...
April 12, 2024: European Journal of Clinical Nutrition
#18
Javier Delgado-Lista, Jose M Mostaza, Teresa Arrobas-Velilla, Francisco Blanco-Vaca, Luis Masana, Juan Pedro-Botet, Pablo Perez-Martinez, Fernando Civeira, Jose I Cuende-Melero, Jose J Gomez-Barrado, Carlos Lahoz, Xavier Pintó, Manuel Suarez-Tembra, Jose Lopez-Miranda, Carlos Guijarro
The irruption of lipoprotein(a) (Lp(a)) in the study of cardiovascular risk factors is perhaps, together with the discovery and use of proprotein convertase subtilisin/kexin type 9 (iPCSK9) inhibitor drugs, the greatest novelty in the field for decades. Lp(a) concentration (especially very high levels) has an undeniable association with certain cardiovascular complications, such as atherosclerotic vascular disease (AVD) and aortic stenosis. However, there are several current limitations to both establishing epidemiological associations and specific pharmacological treatment...
April 9, 2024: Clínica e Investigación en Arteriosclerosis
#19
JOURNAL ARTICLE
Jiacan Wu, Guanghong Tao, Hua Xiao
BACKGROUND: Numerous observational studies have investigated on the correlation of whole, semi-skimmed, and skimmed milk with coronary artery disease (CAD) and myocardial infarction (MI) risk; However, no consensus has been reached and evidence on any causal links between these exposures and outcomes remains unclear. This study aimed to conduct univariate and multivariate Mendelian randomization (MR) analyses, using publicly released genome-wide association study summary statistics (GWAS) from the IEU GWAS database, to ascertain the causal association of milk with various fat content with CAD and MI risk...
2024: PloS One
#20
JOURNAL ARTICLE
Paul C Megee, Virginia Uhley, James Grogan, Alan Silverman
INTRODUCTION: Foundational and clinical science integration, a long-standing goal of undergraduate medical education, benefits learners by promoting retention of critical knowledge and skills as well as their transfer to the clinical setting. We implemented a team-based learning (TBL) module in which foundational knowledge and skills from the disciplines of biochemistry, nutrition, and genetics were leveraged in a simulated patient encounter for diagnosis and management of a patient with dyslipidemia...
2024: MedEdPORTAL Publications
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