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https://www.readbyqxmd.com/read/28636007/analysis-of-association-of-gene-variants-with-obesity-traits-in-new-zealand-european-children-at-6-years-of-age
#1
Mohanraj Krishnan, John M D Thompson, Edwin A Mitchell, Rinki Murphy, Lesley M E McCowan, Andrew N Shelling, G On Behalf Of The Children Of Scope Study Group
Childhood obesity is a public health problem, which is associated with a long-term increased risk of cardiovascular disease and premature mortality. Several gene variants have previously been identified that have provided novel insights into biological factors that contribute to the development of obesity. As obesity tracks through childhood into adulthood, identification of the genetic factors for obesity in early life is important. The objective of this study was to identify putative associations between genetic variants and obesity traits in children at 6 years of age...
June 21, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28628560/genetic-coding-variants-in-the-niacin-receptor-hydroxyl-carboxylic-acid-receptor-2-and-response-to-niacin-therapy
#2
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/28625324/esr2-genetic-variants-and-combined-oral-contraceptive-use-associated-with-the-risk-of-stroke
#3
Zhenlin Xu, Ying Li, Xiaoping Huang, Wei Shen, Jianling Bai, Chong Shen, Yang Zhao
BACKGROUND AND AIM: There is accumulating evidence suggesting an important role of estrogen receptor-β in the development of cardiovascular disease. The present study aims to investigate the relationship of estrogen receptor β gene (ESR2) polymorphisms with stroke risk in Chinese women, and further evaluate the gene-environment interaction of ESR2 and combined oral contraceptive (COC) use on stroke risk. METHODS: A case-control study was conducted with 446 first-ever stroke patients and 864 control subjects recruited from our prospective female cohort...
February 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28624099/cardiovascular-disease-and-cancer-evidence-for-shared-disease-pathways-and-pharmacologic-prevention
#4
REVIEW
Farzad Masoudkabir, Nizal Sarrafzadegan, Carolyn Gotay, Andrew Ignaszewski, Andrew D Krahn, Margot K Davis, Christopher Franco, Arya Mani
Cardiovascular disease (CVD) and cancer are leading causes of mortality and morbidity worldwide. Strategies to improve their treatment and prevention are global priorities and major focus of World Health Organization's joint prevention programs. Emerging evidence suggests that modifiable risk factors including diet, sedentary lifestyle, obesity and tobacco use are central to the pathogenesis of both diseases and are reflected in common genetic, cellular, and signaling mechanisms. Understanding this important biological overlap is critical and may help identify novel therapeutic and preventative strategies for both disorders...
June 2, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28623160/basic-concepts-in-molecular-biology-related-to-genetics-and-epigenetics
#5
Dolores Corella, Jose M Ordovas
The observation that "one size does not fit all" for the prevention and treatment of cardiovascular disease, among other diseases, has driven the concept of precision medicine. The goal of precision medicine is to provide the best-targeted interventions tailored to an individual's genome. The human genome is composed of billions of sequence arrangements containing a code that controls how genes are expressed. This code depends on other nonstatic regulators that surround the DNA and constitute the epigenome...
June 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28620497/painful-ovulation-in-a-46-xx-sry-ve-adult-male-with-sox9-duplication
#6
Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28620070/prediction-of-adult-dyslipidemia-using-genetic-and-childhood-clinical-risk-factors-the-cardiovascular-risk-in-young-finns-study
#7
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
#8
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/28619195/association-of-triglyceride-related-genetic-variants-with-mitral%C3%A2-annular%C3%A2-calcification
#9
Mehdi Afshar, Kevin Luk, Ron Do, Line Dufresne, David S Owens, Tamara B Harris, Gina M Peloso, Kathleen F Kerr, Quenna Wong, Albert V Smith, Mathew J Budoff, Jerome I Rotter, L Adrienne Cupples, Stephen S Rich, James C Engert, Vilmundur Gudnason, Christopher J O'Donnell, Wendy S Post, George Thanassoulis
BACKGROUND: Mitral annular calcium (MAC), commonly identified by cardiac imaging, is associated with cardiovascular events and predisposes to the development of clinically important mitral valve regurgitation and mitral valve stenosis. However, its biological determinants remain largely unknown. OBJECTIVES: The authors sought to evaluate whether a genetic predisposition to elevations in plasma lipids is associated with the presence of MAC. METHODS: The authors used 3 separate Mendelian randomization techniques to evaluate the associations of lipid genetic risk scores (GRS) with MAC in 3 large patient cohorts: the Framingham Health Study, MESA (Multiethnic European Study of Atherosclerosis), and the AGE-RS (Age, Gene/Environment Susceptibility-Reykjavik Study)...
June 20, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28615213/experimental-and-human-evidence-for-lipocalin-2-neutrophil-gelatinase-associated-lipocalin-ngal-in-the-development-of-cardiac-hypertrophy-and-heart-failure
#10
Francine Z Marques, Priscilla R Prestes, Sean G Byars, Scott C Ritchie, Peter Würtz, Sheila K Patel, Scott A Booth, Indrajeetsinh Rana, Yosuke Minoda, Stuart P Berzins, Claire L Curl, James R Bell, Bryan Wai, Piyush M Srivastava, Antti J Kangas, Pasi Soininen, Saku Ruohonen, Mika Kähönen, Terho Lehtimäki, Emma Raitoharju, Aki Havulinna, Markus Perola, Olli Raitakari, Veikko Salomaa, Mika Ala-Korpela, Johannes Kettunen, Maree McGlynn, Jason Kelly, Mary E Wlodek, Paul A Lewandowski, Lea M Delbridge, Louise M Burrell, Michael Inouye, Stephen B Harrap, Fadi J Charchar
BACKGROUND: Cardiac hypertrophy increases the risk of developing heart failure and cardiovascular death. The neutrophil inflammatory protein, lipocalin-2 (LCN2/NGAL), is elevated in certain forms of cardiac hypertrophy and acute heart failure. However, a specific role for LCN2 in predisposition and etiology of hypertrophy and the relevant genetic determinants are unclear. Here, we defined the role of LCN2 in concentric cardiac hypertrophy in terms of pathophysiology, inflammatory expression networks, and genomic determinants...
June 14, 2017: Journal of the American Heart Association
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
#11
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/28607533/cysteinyl-leukotrienes-as-potential-pharmacological-targets-for-cerebral-diseases
#12
REVIEW
Paolo Gelosa, Francesca Colazzo, Elena Tremoli, Luigi Sironi, Laura Castiglioni
Cysteinyl leukotrienes (CysLTs) are potent lipid mediators widely known for their actions in asthma and in allergic rhinitis. Accumulating data highlights their involvement in a broader range of inflammation-associated diseases such as cancer, atopic dermatitis, rheumatoid arthritis, and cardiovascular diseases. The reported elevated levels of CysLTs in acute and chronic brain lesions, the association between the genetic polymorphisms in the LTs biosynthesis pathways and the risk of cerebral pathological events, and the evidence from animal models link also CysLTs and brain diseases...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28606749/cardiovascular-disease-in-systemic-lupus-erythematosus-a-comprehensive-update
#13
REVIEW
Mayra Giannelou, Clio P Mavragani
Heightened rates of both cardiovascular (CV) events and subclinical atherosclerosis, documented by imaging and vascular function techniques are well established in systemic lupus erythematosus (SLE). While traditional CV factors such as smoking, dyslipidemia, diabetes mellitus (DM), hypertension, central obesity and hyperhomocysteinemia have been reported to be prevalent in lupus patients, they do not fully explain the high rates of ischemic events so far reported, implying that other factors inherent to disease itself could account for the enhanced risk, including disease duration, activity and chronicity, psychosocial factors, medications, genetic variants and altered immunological mechanisms...
June 9, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#14
Joanna C E-S Lim, Matthew Cauldwell, Roshni R Patel, Anselm Uebing, Ruth A Curry, Mark R Johnson, Michael A Gatzoulis, Lorna Swan
BACKGROUND: Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC))...
May 22, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28606381/which-origin-for-polycystic-ovaries-syndrome-genetic-environmental-or-both
#15
Patrick Fenichel, Charlotte Rougier, Sylvie Hieronimus, Nicolas Chevalier
Polycystic ovaries syndrome (PCOS), the most common female endocrine disorder, affects 7-10% of women of childbearing age. It includes ovarian hyperandrogenism, impaired follicular maturation, anovulation and subfertility. Insulin resistance, although present in most cases, is not necessary for diagnosis. It increases hyperandrogenism and long-term metabolic, cardiovascular and oncological risks. The origin of hyperandrogenism and hyperinsulinemia has a genetic component, as demonstrated by familial aggregation studies and recent identification of associated genomic variants, conferring a particular susceptibility to the syndrome...
June 9, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28606094/what-is-the-impact-of-pcsk9-rs505151-and-rs11591147-polymorphisms-on-serum-lipids-level-and-cardiovascular-risk-a-meta-analysis
#16
Chengfeng Qiu, Pingyu Zeng, Xiaohui Li, Zhen Zhang, Bingjie Pan, Zhou Y F Peng, Yapei Li, Yeshuo Ma, Yiping Leng, Ruifang Chen
BACKGROUND: PCSK9 rs505151 and rs11591147 polymorphisms are identified as gain- and loss-of-function mutations, respectively. The effects of these polymorphisms on serum lipid levels and cardiovascular risk remain to be elucidated. METHODS: In this meta-analysis, we explored the association of PCSK9 rs505151 and rs11591147 polymorphisms with serum lipid levels and cardiovascular risk by calculating the standardized mean difference (SMD) and odds ratios (OR) with 95% confidence intervals (CI)...
June 12, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28602574/characteristics-of-hanwoo-cattle-and-health-implications-of-consuming-highly-marbled-hanwoo-beef
#17
REVIEW
Seon-Tea Joo, Young-Hwa Hwang, Damian Frank
This review addresses the unique characteristics of Hanwoo cattle and potential health implications of consuming highly marbled Hanwoo beef. The Hanwoo breed has high genetic potential for accumulating intramuscular fat (IMF) and producing highly marbled beef. The high level of marbling is achieved through increasing levels of concentrated feed with an extended finishing period. In response to consumer preferences, the level of marbling of Hanwoo beef has been increasing. The IMF content can be manipulated depending on the feeding duration, finishing diet, and genotype...
June 6, 2017: Meat Science
https://www.readbyqxmd.com/read/28601624/age-at-menarche-and-cardiovascular-risk-factors-using-mendelian-randomization-in-the-guangzhou-biobank-cohort-study
#18
Shiu Lun Au Yeung, Chaoqiang Jiang, Kar Keung Cheng, Lin Xu, Weisen Zhang, Tai Hing Lam, Gabriel Matthew Leung, C Mary Schooling
Observational studies show earlier age at menarche associated with higher risk of cardiovascular disease although these studies could be confounded by childhood obesity or childhood socioeconomic position. We hypothesized that earlier age at menarche is associated with poorer cardiovascular risk factors using a Mendelian randomization design. We conducted a Mendelian randomization study in a large Southern Chinese cohort, the Guangzhou Biobank Cohort Study (n=12,279), to clarify the causal role of menarche in cardiovascular disease risk factors including blood pressure, lipids, fasting glucose, adiposity and type 2 diabetes...
June 7, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/28598953/uromodulin-associates-with-cardiorenal-function-in-patients-with-hypertension-and-cardiovascular-disease
#19
Engi A H Algharably, Juliane Bolbrinker, Susanne Lezius, Rona Reibis, Karl Wegscheider, Heinz Völler, Reinhold Kreutz
OBJECTIVE: Common genetic variants in the gene encoding uromodulin (UMOD) have been associated with renal function, blood pressure (BP) and hypertension. We investigated the associations between an important single nucleotide polymorphism (SNP) in UMOD, that is rs12917707-G>T, and estimated glomerular filtration rate (eGFR), BP and cardiac organ damage as determined by echocardiography in patients with arterial hypertension. METHODS: A cohort of 1218 treated high-risk patients (mean age 58...
June 8, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28598570/the-outcome-of-isolated-prenatal-ventricular-size-disproportion-in-the-absence-of-aortic-coarctation
#20
A E L van Nisselrooij, L Rozendaal, I Linskens, S A Clur, J Hruda, E Pajkrt, C L van Velzen, N A Blom, M C Haak
OBJECTIVES: Ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, however, approximately 50% of fetuses do not develop CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with ventricular disproportion in the absence of CoA in this cohort. METHODS: All cases with prenatal isolated ventricular size disproportion in the period 2002-2015 were extracted from a prenatal congenital heart defects (CHD) registry of a regional cohort...
June 9, 2017: Ultrasound in Obstetrics & Gynecology
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