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cardiovascular disease genetic risk assessment

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https://www.readbyqxmd.com/read/28716248/interleukin-6-il-6-rs1800796-and-cyclin-dependent-kinase-inhibitor-cdkn2a-cdkn2b-rs2383207-are-associated-with-ischemic-stroke-in-indigenous-west-african-men
#1
Rufus Akinyemi, Donna K Arnett, Hemant K Tiwari, Bruce Ovbiagele, Fred Sarfo, Vinodh Srinivasasainagendra, Marguerite Ryan Irvin, Abiodun Adeoye, Rodney T Perry, Albert Akpalu, Carolyn Jenkins, Lukman Owolabi, Reginald Obiako, Kolawole Wahab, Emmanuel Sanya, Morenikeji Komolafe, Michael Fawale, Philip Adebayo, Godwin Osaigbovo, Taofiki Sunmonu, Paul Olowoyo, Innocent Chukwuonye, Yahaya Obiabo, Onoja Akpa, Sylvia Melikam, Raelle Saulson, Raj Kalaria, Adesola Ogunniyi, Mayowa Owolabi
BACKGROUND: Inherited genetic variations offer a possible explanation for the observed peculiarities of stroke in sub - Saharan African populations. Interleukin-6 polymorphisms have been previously associated with ischemic stroke in some non-African populations. AIM: Herein we investigated, for the first time, the association of genetic polymorphisms of IL-6, CDKN2A- CDKN2B and other genes with ischemic stroke among indigenous West African participants in the Stroke Investigative Research and Education Network (SIREN) Study...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28696268/personalizing-risk-stratification-for-sudden-death-in-dilated-cardiomyopathy-the-past-present-and-future
#2
REVIEW
Brian P Halliday, John G F Cleland, Jeffrey J Goldberger, Sanjay K Prasad
Results from the DANISH Study (Danish Study to Assess the Efficacy of ICDs in Patients With Non-Ischemic Systolic Heat Failure on Mortality) suggest that for many patients with dilated cardiomyopathy (DCM), implantable cardioverter-defibrillators do not increase longevity. Accurate identification of patients who are more likely to die of an arrhythmia and less likely to die of other causes is required to ensure improvement in outcomes and wise use of resources. Until now, left ventricular ejection fraction has been used as a key criterion for selecting patients with DCM for an implantable cardioverter-defibrillator for primary prevention purposes...
July 11, 2017: Circulation
https://www.readbyqxmd.com/read/28685504/statins-for-children-with-familial-hypercholesterolemia
#3
REVIEW
Alpo Vuorio, Jaana Kuoppala, Petri T Kovanen, Steve E Humphries, Serena Tonstad, Albert Wiegman, Euridiki Drogari, Uma Ramaswami
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500, although recent genetic epidemiological data from Denmark and next generation sequencing data suggest the frequency may be closer to 1 in 250. Diagnosis of familial hypercholesterolemia in children is based on elevated total cholesterol and low-density lipoprotein cholesterol levels or DNA-based analysis, or both...
July 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28684622/environmental-determinants-of-cardiovascular-disease
#4
REVIEW
Aruni Bhatnagar
Many features of the environment have been found to exert an important influence on cardiovascular disease (CVD) risk, progression, and severity. Changes in the environment because of migration to different geographic locations, modifications in lifestyle choices, and shifts in social policies and cultural practices alter CVD risk, even in the absence of genetic changes. Nevertheless, the cumulative impact of the environment on CVD risk has been difficult to assess and the mechanisms by which some environment factors influence CVD remain obscure...
July 7, 2017: Circulation Research
https://www.readbyqxmd.com/read/28678931/vascular-aging-and-arterial-stiffness
#5
Luana de Rezende Mikael, Anelise Machado Gomes de Paiva, Marco Mota Gomes, Ana Luiza Lima Sousa, Paulo César Brandão Veiga Jardim, Priscila Valverde de Oliveira Vitorino, Maicon Borges Euzébio, Wátila de Moura Sousa, Weimar Kunz Sebba Barroso
Cardiovascular diseases (CVD) account annually for almost one third of all deaths worldwide. Among the CVD, systemic arterial hypertension (SAH) is related to more than half of those outcomes. Type 2 diabetes mellitus is an independent risk factor for SAH because it causes functional and structural damage to the arterial wall, leading to stiffness. Several studies have related oxidative stress, production of free radicals, and neuroendocrine and genetic changes to the physiopathogenesis of vascular aging. Indirect ways to analyze that aging process have been widely studied, pulse wave velocity (PWV) being considered gold standard to assess arterial stiffness, because there is large epidemiological evidence of its predictive value for cardiovascular events, and it requires little technical knowledge to be performed...
June 29, 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28644415/genome-wide-association-study-of-dietary-pattern-scores
#6
Frédéric Guénard, Annie Bouchard-Mercier, Iwona Rudkowska, Simone Lemieux, Patrick Couture, Marie-Claude Vohl
Dietary patterns, representing global food supplies rather than specific nutrients or food intakes, have been associated with cardiovascular disease (CVD) incidence and mortality. The contribution of genetic factors in the determination of food intakes, preferences and dietary patterns has been previously established. The current study aimed to identify novel genetic factors associated with reported dietary pattern scores. Reported dietary patterns scores were derived from reported dietary intakes for the preceding month and were obtained through a food frequency questionnaire and genome-wide association study (GWAS) conducted in a study sample of 141 individuals...
June 23, 2017: Nutrients
https://www.readbyqxmd.com/read/28628560/genetic-coding-variants-in-the-niacin-receptor-hydroxyl-carboxylic-acid-receptor-2-and-response-to-niacin-therapy
#7
Sony Tuteja, Lu Wang, Richard L Dunbar, Jinbo Chen, Stephanie DerOhannessian, Santica M Marcovina, Marshall Elam, Ellis Lader, Daniel J Rader
OBJECTIVE: Niacin has been used for seven decades to modulate plasma lipids, but its mechanism of action is still unclear. We sought to determine whether variants in the niacin receptor gene, hydroxyl-carboxylic receptor 2 (HCAR2), are associated with lipid response to treatment. PARTICIPANTS AND METHODS: Coding variants, rs7314976 (p.R311C) and rs2454727 (p.M317I), were genotyped in 2067 participants from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial...
June 16, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28620070/prediction-of-adult-dyslipidemia-using-genetic-and-childhood-clinical-risk-factors-the-cardiovascular-risk-in-young-finns-study
#8
Joel Nuotio, Niina Pitkänen, Costan G Magnussen, Marie-Jeanne Buscot, Mikko S Venäläinen, Laura L Elo, Eero Jokinen, Tomi Laitinen, Leena Taittonen, Nina Hutri-Kähönen, Leo-Pekka Lyytikäinen, Terho Lehtimäki, Jorma S Viikari, Markus Juonala, Olli T Raitakari
BACKGROUND: Dyslipidemia is a major modifiable risk factor for cardiovascular disease. We examined whether the addition of novel single-nucleotide polymorphisms for blood lipid levels enhances the prediction of adult dyslipidemia in comparison to childhood lipid measures. METHODS AND RESULTS: Two thousand four hundred and twenty-two participants of the Cardiovascular Risk in Young Finns Study who had participated in 2 surveys held during childhood (in 1980 when aged 3-18 years and in 1986) and at least once in a follow-up study in adulthood (2001, 2007, and 2011) were included...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28620069/prediction-of-adulthood-obesity-using-genetic-and-childhood-clinical-risk-factors-in-the-cardiovascular-risk-in-young-finns-study
#9
Fatemeh Seyednasrollah, Johanna Mäkelä, Niina Pitkänen, Markus Juonala, Nina Hutri-Kähönen, Terho Lehtimäki, Jorma Viikari, Tanika Kelly, Changwei Li, Lydia Bazzano, Laura L Elo, Olli T Raitakari
BACKGROUND: Obesity is a known risk factor for cardiovascular disease. Early prediction of obesity is essential for prevention. The aim of this study is to assess the use of childhood clinical factors and the genetic risk factors in predicting adulthood obesity using machine learning methods. METHODS AND RESULTS: A total of 2262 participants from the Cardiovascular Risk in YFS (Young Finns Study) were followed up from childhood (age 3-18 years) to adulthood for 31 years...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28611783/apolipoprotein-l1-genetic-variants-are-associated-with-chronic-kidney-disease-but-not-with-cardiovascular-disease-in-a-population-referred-for-cardiac-catheterization
#10
Hanghang Wang, Patrick H Pun, Lydia Kwee, Damian Craig, Carol Haynes, Megan Chryst-Ladd, Laura P Svetkey, Uptal D Patel, Elizabeth R Hauser, Martin R Pollak, William E Kraus, Svati H Shah
BACKGROUND: While the association between APOL1 genetic variants and chronic kidney disease (CKD) has been established, their association with cardiovascular disease (CVD) is unclear. This study sought to understand CKD and cardiovascular risk conferred by APOL1 variants in a secondary cardiovascular prevention population. METHODS: Two risk variants in APOL1 were genotyped in African-Americans (n = 1,641) enrolled in the CATHGEN biorepository, comprised of patients referred for cardiac catheterization at Duke University Hospital, Durham, NC, USA (2001-2010)...
February 2017: Cardiorenal Medicine
https://www.readbyqxmd.com/read/28588112/the-hoorn-diabetes-care-system-dcs-cohort-a-prospective-cohort-of-persons-with-type-2-diabetes-treated-in-primary-care-in-the-netherlands
#11
Amber Awa van der Heijden, Simone P Rauh, Jacqueline M Dekker, Joline W Beulens, Petra Elders, Leen M 't Hart, Femke Rutters, Nienke van Leeuwen, Giel Nijpels
PURPOSE: People with type 2 diabetes (T2D) have a doubled morbidity and mortality risk compared with persons with normal glucose tolerance. Despite treatment, clinical targets for cardiovascular risk factors are not achieved. The Hoorn Diabetes Care System cohort (DCS) is a prospective cohort representing a comprehensive dataset on the natural course of T2D, with repeated clinical measures and outcomes. In this paper, we describe the design of the DCS cohort. PARTICIPANTS: The DCS consists of persons with T2D in primary care from the West-Friesland region of the Netherlands...
June 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28586605/burden-of-atherosclerosis-risk-among-different-ethinicity-a-hidden-health-challenge
#12
Tariq Ashraf, Kanwal Fatima Aamir, Abdul Samad Achakzai, Naeem Mengal, Muhammad Tariq Karim
BACKGROUND: Atherosclerosis risk and incidence of developing chronic cardiovascular conditions vary greatly between ethnic groups in South Asian population. To evaluate different ethnic groups in Pakistan, population based study was conducted at Karachi, the largest metropolitan city of Pakistan; to assess ten years and lifetime estimated cardiovascular disease risks without preexisting cardiovascular disease in Pakistani subjects by using Pooled Cohort Risk equation (calculator) as per American College of Cardiology (ACC) and the American Heart Association (AHA) 2013 guidelines...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28582863/framingham-risk-score-and-the-risk-of-progression-from-mild-cognitive-impairment-to-dementia
#13
Giovanna Viticchi, Lorenzo Falsetti, Laura Buratti, Giulia Sajeva, Simona Luzzi, Marco Bartolini, Leandro Provinciali, Mauro Silvestrini
BACKGROUND: Mild cognitive impairment (MCI) often represents the clinical manifestation of cognitive deterioration preceding Alzheimer's disease (AD). Currently, there are no reliable approaches for an objective evaluation of the risk of developing AD in MCI patients. OBJECTIVE: The aim of this study was to verify whether the Framingham cardiovascular risk profile (FCRP) could be useful to identify patients at the highest risk of conversion from MCI to AD. METHODS: Patients with amnestic MCI (aMCI) were carefully investigated to assess their vascular risk profile...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28566229/-cardiovascular-risk-and-cardiovascular-events-in-the-general-population-of-the-sanitary-area-of-toledo-ricarto-study
#14
G C Rodríguez-Roca, L Rodríguez-Padial, F J Alonso-Moreno, A Segura-Fragoso, A Villarín-Castro, M L Rodríguez-García, A Menchén-Herreros, G A Rojas-Martelo, J A Fernández-Conde, L M Artigao-Rodenas, J A Carbayo-Herencia, C Escobar-Cervantes, J Hernández-Moreno, J Fernández-Martín
INTRODUCTION: The main aim of this study is to ascertain the prevalence of cardiovascular risk factors (CVRF), target organ damage (TOD), cardiovascular disease (CVD), as well as life habits (physical exercise, alcohol consumption, and Mediterranean diet) in the population of a Health Area in Toledo, Spain, to assess cardiovascular risk (CVR). MATERIAL AND METHODS: Epidemiological and observational study that will analyse a sample from the general population aged 18 years or older, randomly selected from a database of health cards, and stratified by age and gender...
May 26, 2017: Semergen
https://www.readbyqxmd.com/read/28555039/fads-gene-polymorphisms-fatty-acid-desaturase-activities-and-hdl-c-in-type-2-diabetes
#15
Meng-Chuan Huang, Wen-Tsan Chang, Hsin-Yu Chang, Hsin-Fang Chung, Fang-Pei Chen, Ya-Fang Huang, Chih-Cheng Hsu, Shang-Jyh Hwang
Polyunsaturated fatty acids (PUFA) correlate with risk of dyslipidemia and cardiovascular diseases. Fatty acid desaturase (FADS) single nucleotide polymorphisms (SNPs) modulate circulating PUFA concentrations. This study examined influence of FADS1 and FADS2 genetic variants on desaturase activities and blood lipid concentrations in type 2 diabetes patients, and further assessed their interrelationships. Selected SNPs (FADS1: rs174547, rs174548, rs174550; FADS2: rs174575, rs174576, rs174583, rs498793 and rs2727270) were genotyped in 820 type 2 diabetes patients and compared with those reported in the HapMap...
May 28, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28535172/invited-commentary-the-framingham-offspring-study-a-pioneering-investigation-into-familial-aggregation-of-cardiovascular-risk
#16
JoAnn E Manson, Shari S Bassuk
Launched in 1948, the Framingham Heart Study was a seminal prospective cohort study of 5,209 adult residents of Framingham, Massachusetts, that was designed to uncover the determinants and natural history of coronary heart disease. Data from this original cohort established the cardiac threat posed by high blood pressure, high cholesterol, smoking, obesity, physical inactivity, diabetes, and other factors. In the late 1960s, investigators conceived the innovative idea of assembling a second cohort that comprised the adult children of the original study population (and these children's spouses)...
June 1, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28535166/adult-height-prevalent-coronary-calcium-score-and-incident-cardiovascular-outcomes-in-a-multi-ethnic-cohort
#17
Joseph Yeboah, Michael J Blaha, Erin D Michos, Waqas Qureshi, Michael Miedema, Peter Flueckiger, Carlos J Rodriguez, Moyses Szklo, Alain G Bertoni
We assessed the relationships among adult height, coronary artery calcium (CAC) scores, incident atherosclerotic cardiovascular disease (ASCVD) events, and atrial fibrillation (Afib) in a multi-ethnic cohort. We used race/ethnicity -specific height (dichotomized by median and quartiles) as the predictor variable within the four race/ethnic groups in the Multi-Ethnic Study of Atherosclerosis (N = 6,814). After a mean of 10.2 years of follow-up (2000-2012), 556 ASCVD events (8.2%) and 539 afib events (7.9%) occurred...
May 23, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28515798/epigenome-wide-association-of-myocardial-infarction-with-dna-methylation-sites-at-loci-related-to-cardiovascular-disease
#18
Masahiro Nakatochi, Sahoko Ichihara, Ken Yamamoto, Keiko Naruse, Shigeki Yokota, Hiroyuki Asano, Tatsuaki Matsubara, Mitsuhiro Yokota
BACKGROUND: Development of cardiovascular disease (CVD), including coronary artery disease, arrhythmia, and ischemic stroke, depends on environmental and genetic factors. To investigate the epigenetic basis of myocardial infarction (MI), we performed an epigenome-wide association study for this condition in elderly Japanese subjects. A total of 192 case subjects with MI and 192 control subjects were recruited from hospital attendees and the general population, respectively. Genome-wide DNA methylation (DNAm) profiles for DNA isolated from whole blood were obtained by analysis with an Infinium HumanMethylation450 BeadChip...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28492093/higher-prevalence-of-cerebral-white-matter-hyperintensities-in-homozygous-apoe-%C3%A9-4-allele-carriers-aged-45-75-results-from-the-alfa-study
#19
Santiago Rojas, Anna Brugulat-Serrat, Nuria Bargalló, Carolina Minguillón, Alan Tucholka, Carles Falcon, Andreia Carvalho, Sebastian Morán, Manel Esteller, Nina Gramunt, Karine Fauria, Jordi Camí, José L Molinuevo, Juan D Gispert
Cerebral white matter hyperintensities are believed the consequence of small vessel disease and are associated with risk and progression of Alzheimer's disease. The ɛ4 allele of the APOE gene is the major factor accountable for Alzheimer's disease heritability. However, the relationship between white matter hyperintensities and APOE genotype in healthy subjects remains controversial. We investigated the association between APOE-ɛ4 and vascular risk factors with white matter hyperintensities, and explored their interactions, in a cohort of cognitively healthy adults (45-75 years)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28475226/molecular-cytogenetic-characterization-of-five-f8-complex-rearrangements-utility-for-haemophilia-a-genetic-counselling
#20
Y Jourdy, N Chatron, M Fretigny, M L Carage, H Chambost, S Claeyssens-Donadel, V Roussel-Robert, C Negrier, D Sanlaville, C Vinciguerra
BACKGROUND: Genomic inversions are usually balanced, but unusual patterns have been described in haemophilia A (HA) patients for intron 22 (Inv22) and intron 1 (Inv1) inversions leading to the hypothesis of more complex rearrangements involving deletions or duplications. AIM: To characterize five abnormal patterns either in Southern blot and long-range PCR for Inv22 or in PCR for Inv1. MATERIALS AND METHODS: All patients were studied using cytogenetic microarray analysis (CMA)...
May 5, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
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