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https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#1
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28078998/lipoprotein-a-management-pharmacological-and-apheretic-treatment
#2
Ruth Hanssen, Ioanna Gouni-Berthold
Lipoprotein (a) [Lp(a)] is an low-density lipoprotein (LDL)-like particle with an additional apolipoprotein, apolipoprotein (a), [apo(a)] attached to apolipoprotein B. Recent epidemiologic and Mendelian randomization studies have provided evidence that Lp(a) is causally related to the pathogenesis of atherosclerosis and cardiovascular disease (CVD). The risk association between Lp(a) concentrations and CVD is still controversial but seems to be continuous and without an obvious threshold Lp(a) level. Circulating concentrations of Lp(a) are genetically determined; desirable levels are amplt; 50 mg/dl...
January 12, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28075528/prospective-evaluation-of-genetic-variation-in-platelet-endothelial-aggregation-receptor-1-reveals-aspirin-dependent-effects-on-platelet-aggregation-pathways
#3
J D Backman, L M Yerges-Armstrong, R B Horenstein, S Newcomer, S Shaub, M Morrisey, P Donnelly, M Drolet, K Tanner, M A Pavlovich, J R O'Connell, B D Mitchell, J P Lewis
Genetic variation in the platelet endothelial aggregation receptor 1 (PEAR1) gene, most notably rs12041331, is implicated in altered on-aspirin platelet aggregation and increased cardiovascular event risk. We prospectively tested the effects of aspirin administration at commonly prescribed doses (81, 162, and 324 mg/day) on agonist-induced platelet aggregation by rs12041331 genotype in 67 healthy individuals. Prior to aspirin administration, rs12041331 minor allele carriers had significantly reduced adenosine diphosphate (ADP)-induced platelet aggregation compared with noncarriers (P = 0...
January 11, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28075340/bioactive-nutrients-and-nutrigenomics-in-age-related-diseases
#4
REVIEW
Tania Rescigno, Luigina Micolucci, Mario F Tecce, Anna Capasso
The increased life expectancy and the expansion of the elderly population are stimulating research into aging. Aging may be viewed as a multifactorial process that results from the interaction of genetic and environmental factors, which include lifestyle. Human molecular processes are influenced by physiological pathways as well as exogenous factors, which include the diet. Dietary components have substantive effects on metabolic health; for instance, bioactive molecules capable of selectively modulating specific metabolic pathways affect the development/progression of cardiovascular and neoplastic disease...
January 8, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#5
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28069601/comprehensive-multi-modality-imaging-approach-in-arrhythmogenic-cardiomyopathy-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#6
Kristina H Haugaa, Cristina Basso, Luigi P Badano, Chiara Bucciarelli-Ducci, Nuno Cardim, Oliver Gaemperli, Maurizio Galderisi, Gilbert Habib, Juhani Knuuti, Patrizio Lancellotti, William McKenna, Danilo Neglia, Bogdan A Popescu, Thor Edvardsen
Arrhythmogenic cardiomyopathy (AC) is a progressive disease with high risk of life-threatening ventricular arrhythmias. A genetic mutation is found in up to 50-60% of probands, mostly affecting desmosomal genes. Diagnosis of AC is made by a combination of data from different modalities including imaging, electrocardiogram, Holter monitoring, family history, genetic testing, and tissue properties. Being a progressive cardiomyopathy, repeated cardiac imaging is needed in AC patients. Repeated imaging is important also for risk assessment of ventricular arrhythmias...
January 9, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28065479/interaction-between-a-variant-of-cdkn2a-b-gene-with-lifestyle-factors-in-determining-dyslipidemia-and-estimated-cardiovascular-risk-a-step-toward-personalized-nutrition
#7
Mehrane Mehramiz, Faeze Ghasemi, Habibollah Esmaily, Maryam Tayefi, Seyed Mahdi Hassanian, Mahsa Sadeghzade, Fatemeh Sadabadi, Mohsen Moohebati, Mahmoud Reza Azarpazhooh, Seyed Mohammad Reza Parizadeh, Alireza Heidari-Bakavoli, Mohammad Safarian, Mohsen Nematy, Mahmoud Ebrahimi, Mikhail Ryzhikov, Gordon A Ferns, Majid Ghayour-Mobarhan, Amir Avan
BACKGROUND & AIMS: Several genome-wide-association-studies have identified genetic variants in a region on chromosome 9p21 that are associated with an increased risk of Cardiovascular disease (CVD) and diabetes. Here we have explored the interaction of a genetic variant of the CDKN2A/B-rs10811661 gene locus with cardiovascular risk factors and environmental-exposures (e.g., diet and physical activity) in 1165 individuals recruited from the Mashhad-Stroke and Heart-Atherosclerotic-Disorders cohort...
December 28, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28063875/clinical-worthlessness-of-genetic-prediction-of-common-forms-of-diabetes-mellitus-and-related-chronic-complications-a-position-statement-of-the-italian-society-of-diabetology
#8
REVIEW
R Buzzetti, S Prudente, M Copetti, M Dauriz, S Zampetti, M Garofolo, G Penno, V Trischitta
AIM: We are currently facing several attempts aimed at marketing genetic data for predicting multifactorial diseases, among which diabetes mellitus is one of the more prevalent. The present document primarily aims at providing to practicing physicians a summary of available data regarding the role of genetic information in predicting diabetes and its chronic complications. DATA SYNTHESIS: Firstly, general information about characteristics and performance of risk prediction tools will be presented in order to help clinicians to get acquainted with basic methodological information related to the subject at issue...
August 26, 2016: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28062618/use-of-biomarkers-in-predicting-the-onset-monitoring-the-progression-and-risk-stratification-for-patients-with-type-2-diabetes-mellitus
#9
REVIEW
Benjamin M Scirica
BACKGROUND: As the worldwide prevalence of type 2 diabetes mellitus (T2DM) increases, it is even more important to develop cost-effective methods to predict and diagnose the onset of diabetes, monitor progression, and risk stratify patients in terms of subsequent cardiovascular and diabetes complications. CONTENT: Nonlaboratory clinical risk scores based on risk factors and anthropomorphic data can help identify patients at greatest risk of developing diabetes, but glycemic indices (hemoglobin A1c, fasting plasma glucose, and oral glucose tolerance tests) are the cornerstones for diagnosis, and the basis for monitoring therapy...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28060975/-prevalence-of-cardiovascular-risk-factors-in-a-rural-aymara-population-from-northern-chile
#10
Pablo Vargas M, Stephanie Saavedra P, María Virginia Araya A, Khanty Loyola A, Patricio Huerta G, Mariana Silva A, Scarlett Araya C, Willybaldo Saavedra A, Pilar Portales P, Willybaldo Saavedra P
BACKGROUND: Some rural non-Caucasian ethnic groups have genetic protective factors for the development of chronic non-communicable diseases. Studies performed in Mapuche and Aymara ethnic groups in Chile, found significantly lower prevalence rates. Aymaras are the second most common ethnic population in Chile. AIM: To determine the prevalence of cardiovascular risk factors in a native Aymara ethnic population. MATERIAL AND METHODS: We studied 276 native Aymara people with a median age of 53 years (63% women), registered in the rural clinics of Camiña and Putre...
September 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28059953/lipoprotein-a-new-insights-from-modern-genomics
#11
Mehdi Afshar, George Thanassoulis
PURPOSE OF REVIEW: Lipoprotein(a) [Lp(a)] is the strongest independent genetic risk factor for both myocardial infarction and aortic stenosis. It has also been associated with other forms of atherosclerotic cardiovascular disease (CVD) including ischemic stroke. Its levels are genetically determined and remain fairly stable throughout life. Elevated Lp(a), above 50 mg/dl, affects one in five individuals worldwide. RECENT FINDINGS: Herein, we review the recent epidemiologic and genetic evidence supporting the causal role of Lp(a) in CVD, highlight recommendations made by European and Canadian guidelines regarding Lp(a) and summarize the rapidly evolving field of Lp(a)-lowering therapies including antisense therapies and Proprotein Convertase Subtilisin/Kexin Type 9 inhibitors...
January 5, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28059950/phenotype-vs-genotype-in-severe-familial-hypercholesterolemia-what-matters-most-for-the-clinician
#12
Raul D Santos
PURPOSE OF THE REVIEW: Familial hypercholesterolemia is associated with a high lifetime risk of atherosclerotic cardiovascular disease (ASCVD). However, this risk is variable. This review evaluates recent evidence related to ASCVD risk stratification in familial hypercholesterolemia considering aspects of phenotype and genotype. RECENT FINDINGS: The heterogeneity in clinical, laboratory characteristics, and in ASCVD risk in both homozygous and heterozygous familial hypercholesterolemia individuals in part can be attributed to the type of molecular defect...
January 5, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28059156/genetic-screening-in-arterial-hypertension
#13
REVIEW
Gian Paolo Rossi, Giulio Ceolotto, Brasilina Caroccia, Livia Lenzini
Studies involving adoptive families and twins have demonstrated the genetic basis of hypertension and shown that genetic factors account for about 40% of the variance in blood pressure among individuals. Arterial hypertension is genetically complex: multiple genes influence the blood pressure phenotype through allelic effects from single genes and gene-gene interactions. Moreover, environmental factors also modify the blood pressure phenotype. This complexity explains why the identification of the underlying genes has not been as successful in hypertension as in other diseases (such as type 1 and type 2 diabetes mellitus)...
January 6, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28059143/influence-of-coronary-artery-disease-and-subclinical-atherosclerosis-related-polymorphisms-on-the-risk-of-atherosclerosis-in-rheumatoid-arthritis
#14
Raquel López-Mejías, Alfonso Corrales, Esther Vicente, Montserrat Robustillo-Villarino, Carlos González-Juanatey, Javier Llorca, Fernanda Genre, Sara Remuzgo-Martínez, Trinidad Dierssen-Sotos, José A Miranda-Filloy, Marco A Ramírez Huaranga, Trinitario Pina, Ricardo Blanco, Juan J Alegre-Sancho, Enrique Raya, Verónica Mijares, Begoña Ubilla, Iván Ferraz-Amaro, Carmen Gómez-Vaquero, Alejandro Balsa, Francisco J López-Longo, Patricia Carreira, Isidoro González-Álvaro, J Gonzalo Ocejo-Vinyals, Luis Rodríguez-Rodríguez, Benjamín Fernández-Gutiérrez, Santos Castañeda, Javier Martín, Miguel A González-Gay
A genetic component influences the development of atherosclerosis in the general population and also in rheumatoid arthritis (RA). However, genetic polymorphisms associated with atherosclerosis in the general population are not always involved in the development of cardiovascular disease (CVD) in RA. Accordingly, a study in North-American RA patients did not show the association reported in the general population of coronary artery disease with a series of relevant polymorphisms (TCF21, LPA, HHIPL1, RASD1-PEMT, MRPS6, CYP17A1-CNNM2-NT5C2, SMG6-SRR, PHACTR1, WDR12 and COL4A1-COL4A2)...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28055992/-practicality-of-cardiovascular-risk-functions
#15
Jaume Marrugat, Roberto Elosua, Gloria Icaza, Alberto Morales-Salinas, Irene R Dégano
Cardiovascular diseases prevention strategies require refinement because their incidence decreases very slowly. Risk functions were developed by including classical cardiovascular risk factors (age, sex, smoking, diabetes, blood pressure, and basic lipid profile) in cohorts followed more than 10 years. They are reasonably precise for population screening of, principally, coronary artery disease risk, required in all cardiovascular primary prevention clinical guidelines. Coronary artery disease risk functions classify patients in risk strata to concentrate the maximum therapeutic and life style effort in the highest risk groups, in which the number needed to treat and cost-effectiveness are optimal...
December 13, 2016: Medwave
https://www.readbyqxmd.com/read/28046027/genome-wide-association-study-reveals-four-loci-for-lipid-ratios-in-the-korean-population-and-the-constitutional-subgroup
#16
Taehyeung Kim, Ah Yeon Park, Younghwa Baek, Seongwon Cha
Circulating lipid ratios are considered predictors of cardiovascular risks and metabolic syndrome, which cause coronary heart diseases. One constitutional type of Korean medicine prone to weight accumulation, the Tae-Eum type, predisposes the consumers to metabolic syndrome, hypertension, diabetes mellitus, etc. Here, we aimed to identify genetic variants for lipid ratios using a genome-wide association study (GWAS) and followed replication analysis in Koreans and constitutional subgroups. GWASs in 5,292 individuals of the Korean Genome and Epidemiology Study and replication analyses in 2,567 subjects of the Korea medicine Data Center were performed to identify genetic variants associated with triglyceride (TG) to HDL cholesterol (HDLC), LDL cholesterol (LDLC) to HDLC, and non-HDLC to HDLC ratios...
2017: PloS One
https://www.readbyqxmd.com/read/28040293/prevalence-and-severity-of-coronary-artery-calcification-based-on-the-epidemiologic-pattern-a-propensity-matched-comparison-of-asymptomatic-korean-and-chinese-adults
#17
Donghee Han, Yang Gao, Bríain Ó Hartaigh, Heidi Gransar, Ji Hyun Lee, Asim Rizvi, Su-Yeon Choi, Eun Ju Chun, Jidong Sung, Hae-Won Han, Sung Hak Park, James K Min, Bin Lu, Hyuk-Jae Chang
BACKGROUND: Lifestyle, environmental, and genetic factors substantially influence cardiovascular disease (CVD) risk. We aimed to explore epidemiologic trends in coronary artery calcium scores (CACS), as a marker of CVD, along with possible differences by geographic area and study period in separate East Asian populations. METHODS: We generated 3 matched groups (n=702) using a propensity scoring approach derived from a Korean (N=48,901) and Chinese cohort (N=927) as follows: (1) A recent Chinese group and (2) recent Korean group, both of whom underwent CACS scanning from 2012-2014; and (3) a past Korean group who underwent CACS scanning 8-10years before the index group (2002-2006)...
December 21, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/28039329/a-genome-wide-interaction-analysis-of-tricyclic-tetracyclic-antidepressants-and-rr-and-qt-intervals-a-pharmacogenomics-study-from-the-cohorts-for-heart-and-aging-research-in-genomic-epidemiology-charge-consortium
#18
Raymond Noordam, Colleen M Sitlani, Christy L Avery, James D Stewart, Stephanie M Gogarten, Kerri L Wiggins, Stella Trompet, Helen R Warren, Fangui Sun, Daniel S Evans, Xiaohui Li, Jin Li, Albert V Smith, Joshua C Bis, Jennifer A Brody, Evan L Busch, Mark J Caulfield, Yii-Der I Chen, Steven R Cummings, L Adrienne Cupples, Qing Duan, Oscar H Franco, Rául Méndez-Giráldez, Tamara B Harris, Susan R Heckbert, Diana van Heemst, Albert Hofman, James S Floyd, Jan A Kors, Lenore J Launer, Yun Li, Ruifang Li-Gao, Leslie A Lange, Henry J Lin, Renée de Mutsert, Melanie D Napier, Christopher Newton-Cheh, Neil Poulter, Alexander P Reiner, Kenneth M Rice, Jeffrey Roach, Carlos J Rodriguez, Frits R Rosendaal, Naveed Sattar, Peter Sever, Amanda A Seyerle, P Eline Slagboom, Elsayed Z Soliman, Nona Sotoodehnia, David J Stott, Til Stürmer, Kent D Taylor, Timothy A Thornton, André G Uitterlinden, Kirk C Wilhelmsen, James G Wilson, Vilmundur Gudnason, J Wouter Jukema, Cathy C Laurie, Yongmei Liu, Dennis O Mook-Kanamori, Patricia B Munroe, Jerome I Rotter, Ramachandran S Vasan, Bruce M Psaty, Bruno H Stricker, Eric A Whitsel
BACKGROUND: Increased heart rate and a prolonged QT interval are important risk factors for cardiovascular morbidity and mortality, and can be influenced by the use of various medications, including tricyclic/tetracyclic antidepressants (TCAs). We aim to identify genetic loci that modify the association between TCA use and RR and QT intervals. METHODS AND RESULTS: We conducted race/ethnic-specific genome-wide interaction analyses (with HapMap phase II imputed reference panel imputation) of TCAs and resting RR and QT intervals in cohorts of European (n=45 706; n=1417 TCA users), African (n=10 235; n=296 TCA users) and Hispanic/Latino (n=13 808; n=147 TCA users) ancestry, adjusted for clinical covariates...
December 30, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28035221/is-there-any-increased-risk-of-hypertension-diabetes-and-cardiac-diseases-in-psoriatic-patients-with-tnf-%C3%AE-g238a-and-g308a-polymorphism
#19
Selda Işik, Meliha Merve Hız, Sevilay Kılıç, Zerrin Öğretmen, Fatma Silan
INTRODUCTION: Psoriasis is regarded as a complex autoimmune disease with strong genetic background. Psoriatic patients suffer from many comorbidities including hypertension, diabetes and cardiovascular diseases. Cytokines such as tumor necrosis factor α (TNF-α) may be a key player that triggers psoriasis and diabetes, hypertension and cardiac disease at the same time. AIM: To evaluate genetic variations in the TNF-α region and its association with psoriasis and related comorbidities...
December 2016: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28033544/complement-receptor-1-gene-polymorphisms-are-associated-with-cardiovascular-risk
#20
Marijke A de Vries, Stella Trompet, Simon P Mooijaart, Roelof A J Smit, Stefan Böhringer, Manuel Castro Cabezas, J Wouter Jukema
BACKGROUND AND AIMS: Inflammation plays a key role in atherosclerosis. The complement system is involved in atherogenesis, and the complement receptor 1 (CR1) plays a role facilitating the clearance of immune complexes from the circulation. Limited evidence suggests that CR1 may be involved in cardiovascular disease. We investigated the relationship between CR1 gene polymorphisms and cardiovascular risk. METHODS: Single nucleotide polymorphisms (SNPs) within the CR1 region (n = 73) on chromosome 1 were assessed in 5244 participants in PROSPER (PROspective Study of Pravastatin in the Elderly at Risk) (mean age 75...
December 20, 2016: Atherosclerosis
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