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Genetic cardiovascular disparities

Nicholas O McLean, Todd W Robinson, Barry I Freedman
Apolipoprotein L1 gene (APOL1) renal risk variants exhibit strong genetic associations with a spectrum of nondiabetic kidney diseases in individuals with recent African ancestry. Relationships between APOL1 kidney risk variants and cardiovascular disease (CVD) susceptibility and CVD-related death remain controversial. Some studies detected an increased risk for CVD, whereas others support protection from death and subclinical CVD and cerebrovascular disease. Because treatments for nondiabetic kidney disease may target this gene and its protein products, it remains critical to clarify the potential extrarenal effects of APOL1 kidney risk variants...
January 28, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Lisa M Marks, Susan J Neuhaus
BACKGROUND Venous thromboembolism (VTE), comprising deep vein thrombosis (DVT) and pulmonary embolism (PE), is a common, serious cardiovascular event. Predisposing factors include genetic disorders, immobility, and underlying malignancy. Soft tissue tumors are by contrast rare, but should be included in the differential etiology of DVT, especially when the patient is young and has few thrombotic risk factors. CASE REPORT We present a 40-year-old patient whose initial diagnosis was spontaneous DVT of the lower leg, treated conventionally...
December 20, 2016: American Journal of Case Reports
Stephanie A Bien, Genevieve L Wojcik, Niha Zubair, Christopher R Gignoux, Alicia R Martin, Jonathan M Kocarnik, Lisa W Martin, Steven Buyske, Jeffrey Haessler, Ryan W Walker, Iona Cheng, Mariaelisa Graff, Lucy Xia, Nora Franceschini, Tara Matise, Regina James, Lucia Hindorff, Loic Le Marchand, Kari E North, Christopher A Haiman, Ulrike Peters, Ruth J F Loos, Charles L Kooperberg, Carlos D Bustamante, Eimear E Kenny, Christopher S Carlson
Investigating genetic architecture of complex traits in ancestrally diverse populations is imperative to understand the etiology of disease. However, the current paucity of genetic research in people of African and Latin American ancestry, Hispanic and indigenous peoples in the United States is likely to exacerbate existing health disparities for many common diseases. The Population Architecture using Genomics and Epidemiology, Phase II (PAGE II), Study was initiated in 2013 by the National Human Genome Research Institute to expand our understanding of complex trait loci in ethnically diverse and well characterized study populations...
2016: PloS One
Kieren J Egan, Kristen L Knutson, Alexandre C Pereira, Malcolm von Schantz
In recent years, strong evidence has emerged suggesting that insufficient duration, quality, and/or timing of sleep are associated with cardiovascular disease (CVD), and various mechanisms for this association have been proposed. Such associations may be related to endophenotypic features of the sleep homeostat and the circadian oscillator, or may be state-like effects of the environment. Here, we review recent literature on sleep, circadian rhythms and CVD with a specific emphasis on differences between racial/ethnic groups...
June 3, 2016: Sleep Medicine Reviews
Kenneth Jamerson
Race and ethnicity provide an important construct that identifies individuals at increased risk for hypertension and related cardiovascular complications. While a significan proportion of health care disparity can be attributed to social, cultural and ecomnomic factors, mapping of the human genome allows for a biological construct of race. A systematic review of the effect of race on the response to antihypertensive therapy was performed in 2007. In this current review, an update of this subject is provided...
September 2016: Journal of Hypertension
Nina E Diana, Saraladevi Naicker
The prevalence of HIV-associated chronic kidney disease (CKD) varies geographically and depends on the definition of CKD used, ranging from 4.7% to 38% globally. The incidence, however, has decreased with the use of effective combined antiretroviral therapy (cART). A wide variety of histological patterns are seen in HIV-associated kidney diseases that include glomerular and tubulointerstitial pathology. In resource-rich settings, there has been a plateau in the incidence of end-stage renal disease secondary to HIV-associated nephropathy (HIVAN)...
2016: International Journal of Nephrology and Renovascular Disease
Kenneth Jamerson
Race and ethnicity provide an important construct that identifies individuals at increased risk for hypertension and related cardiovascular complications. While a significan proportion of health care disparity can be attributed to social, cultural and ecomnomic factors, mapping of the human genome allows for a biological construct of race. A systematic review of the effect of race on the response to antihypertensive therapy was performed in 2007. In this current review, an update of this subject is provided...
September 2016: Journal of Hypertension
Vishnubhotla Venkata Ravi Kanth, Mitnala Sasikala, Mithun Sharma, Padaki Nagaraja Rao, Duvvuru Nageshwar Reddy
Genetics plays an important role in determining the susceptibility of an individual to develop a disease. Complex, multi factorial diseases of modern day (diabetes, cardiovascular disease, hypertension and obesity) are a result of disparity between the type of food consumed and genes, suggesting that food which does not match the host genes is probably one of the major reasons for developing life style diseases. Non-alcoholic fatty liver is becoming a global epidemic leading to substantial morbidity. While various genotyping approaches such as whole exome sequencing using next generation sequencers and genome wide association studies have identified susceptibility loci for non-alcoholic fatty liver disease (NAFLD) including variants in patatin-like phospholipase domain containing 3 and transmembrane 6 superfamily member 2 genes apart from others; nutrient based studies emphasized on a combination of vitamin D, E and omega-3 fatty acids to manage fatty liver disease...
July 18, 2016: World Journal of Hepatology
Veena Theendakara, Clare A Peters-Libeu, Patricia Spilman, Karen S Poksay, Dale E Bredesen, Rammohan V Rao
A major unanswered question in biology and medicine is the mechanism by which the product of the apolipoprotein E ε4 allele, the lipid-binding protein apolipoprotein E4 (ApoE4), plays a pivotal role in processes as disparate as Alzheimer's disease (AD; in which it is the single most important genetic risk factor), atherosclerotic cardiovascular disease, Lewy body dementia, hominid evolution, and inflammation. Using a combination of neural cell lines, skin fibroblasts from AD patients, and ApoE targeted replacement mouse brains, we show in the present report that ApoE4 undergoes nuclear translocation, binds double-stranded DNA with high affinity (low nanomolar), and functions as a transcription factor...
January 20, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Jing Zhou, Lingfeng Qin, Tai Yi, Rahmat Ali, Qingle Li, Yang Jiao, Guangxin Li, Zuzana Tobiasova, Yan Huang, Jiasheng Zhang, James J Yun, Mehran M Sadeghi, Frank J Giordano, Jordan S Pober, George Tellides
RATIONALE: Transplantation, the most effective therapy for end-stage organ failure, is markedly limited by early-onset cardiovascular disease (CVD) and premature death of the host. The mechanistic basis of this increased CVD is not fully explained by known risk factors. OBJECTIVE: To investigate the role of alloimmune responses in promoting CVD of organ transplant recipients. METHODS AND RESULTS: We established an animal model of graft-exacerbated host CVD by combining murine models of atherosclerosis (apolipoprotein E-deficient recipients on standard diet) and of intra-abdominal graft rejection (heterotopic cardiac transplantation without immunosuppression)...
November 6, 2015: Circulation Research
Ann M Cavanaugh, Jie Huang, Jau-Nian Chen
Cardiac neural crest cells are essential for outflow tract remodeling in animals with divided systemic and pulmonary circulatory systems, but their contributions to cardiac development in animals with a single-loop circulatory system are less clear. Here we genetically labeled neural crest cells and examined their contribution to the developing zebrafish heart. We identified two populations of neural crest cells that contribute to distinct compartments of zebrafish cardiovascular system at different developmental stages...
August 15, 2015: Developmental Biology
Hester M den Ruijter, Saskia Haitjema, Folkert W Asselbergs, Gerard Pasterkamp
No abstract text is available yet for this article.
July 2015: Atherosclerosis
Anastazia Kei, George Miltiadous, Eleni Bairaktari, Marilena Hadjivassiliou, Marios Cariolou, Moses Elisaf
Dysbetalipoproteinemia is a rare familial dyslipidemia characterized by approximately equally elevated serum cholesterol and triglyceride levels due to accumulated remnant lipoproteins in apolipoprotein E2/E2 homozygotes. It is associated with an increased risk for premature cardiovascular disease. Thus, making a diagnosis of dysbetalipoproteinemia aids in assessing cardiovascular risk correctly and allows for genetic counseling. However, the diagnostic work-up can be challenging. Diagnosis of dysbetalipoproteinemia should be considered in patients mixed dyslipidemia when the apolipoprotein B concentration is relatively low in relation to the total cholesterol concentration or when there is significant disparity between the calculated low density lipoprotein (LDL) and directly measured LDL cholesterol concentrations...
April 16, 2015: World Journal of Clinical Cases
Nicole Ellman, Dheshnie Keswell, Malcolm Collins, Mehreen Tootla, Julia H Goedecke
OBJECTIVE: Dyslipidaemia can lead to the development of atherosclerosis and cardiovascular disease (CVD), however its prevalence has been shown to differ between ethnic groups in South Africa (SA). Therefore the aim of this study was to investigate ethnic differences in the association between serum lipid levels and polymorphisms within genes involved in lipid metabolism in black and white SA women. METHODS: In a convenient sample of 234 white and 209 black SA women of Xhosa ancestry, body composition (DXA) and fasting serum lipids were measured...
June 2015: Atherosclerosis
Stacey J Winham, Mariza de Andrade, Virginia M Miller
Sex differences in incidence and prevalence of and morbidity and mortality from cardiovascular disease are well documented. However, many studies examining the genetic basis for cardiovascular disease fail to consider sex as a variable in the study design, in part, because there is an inherent difficulty in studying the contribution of the sex chromosomes in women due to X chromosome inactivation. This paper will provide general background on the X and Y chromosomes (including gene content, the pseudoautosomal regions, and X chromosome inactivation), discuss how sex chromosomes have been ignored in Genome-wide Association Studies (GWAS) of cardiovascular diseases, and discuss genetics influencing development of cardiovascular risk factors and atherosclerosis with particular attention to carotid intima-medial thickness, and coronary arterial calcification based on sex-specific studies...
July 2015: Atherosclerosis
Keith C Ferdinand, Samar A Nasser
Although several risk factors contribute to cardiovascular disease (CVD) overall, hypertension (HTN) is the major controllable risk factor. Hypertension is disproportionately more prevalent among Blacks or African-Americans compared with other race/ethnic populations, and the control rates among this disparate population are alarming. Several pathophysiologic mechanisms have been demonstrated and evaluated among hypertensives and the conglomeration of genetics, environmental, and personal lifestyle activities concurrently impact the progression of hypertension-related comorbidities (i...
March 2015: Current Hypertension Reports
Jay S Kaufman, Lena Dolman, Dinela Rushani, Richard S Cooper
After nearly a decade of genome-wide association studies, no assessment has yet been made of their contribution toward an explanation of the most prominent racial health disparities observed at the population level. We examined populations of African and European ancestry and focused on cardiovascular diseases, which are collectively the largest contributor to the racial mortality gap. We conducted a systematic search for review articles and meta-analyses published in 2007-2013 in which genetic data from both populations were available...
April 1, 2015: American Journal of Epidemiology
Fátima Rodriguez, Keith C Ferdinand
Persistent disparities in hypertension, CKD, and associated cardiovascular disease have been noted in the United States among racial/ethnic minority groups. Overall, these disparities are largely mediated by social determinants of health. Yet, emerging data suggest additional biologic factors in racial/ethnic disparities in hypertension prevalence, complications, particularly CKD, and responses to treatment. Nevertheless, race is a social construct and not a physiologic concept, and ethnicity, federally defined as the binary "Hispanic/Latino" or "not Hispanic/Latino," is also imprecise...
March 2015: Advances in Chronic Kidney Disease
Sven Reischauer, Rima Arnaout, Radhan Ramadass, Didier Y R Stainier
RATIONALE: Dilated cardiomyopathy is a leading cause of congestive heart failure and a debilitating complication of antineoplastic therapies. Despite disparate causes for dilated cardiomyopathy, maladaptive cardiac remodeling and decreased systolic function are common clinical consequences, begging an investigation of in vivo contractile dynamics in development and disease, one that has been impossible to date. OBJECTIVE: To image myocardial contractile filament dynamics in vivo and to assess potential causes of dilated cardiomyopathy in antineoplastic therapies targeting the epidermal growth factor receptor Erbb2...
October 24, 2014: Circulation Research
Jenny Amaya-Amaya, Laura Montoya-Sánchez, Adriana Rojas-Villarraga
Autoimmune diseases (AD) represent a broad spectrum of chronic conditions that may afflict specific target organs or multiple systems with a significant burden on quality of life. These conditions have common mechanisms including genetic and epigenetics factors, gender disparity, environmental triggers, pathophysiological abnormalities, and certain subphenotypes. Atherosclerosis (AT) was once considered to be a degenerative disease that was an inevitable consequence of aging. However, research in the last three decades has shown that AT is not degenerative or inevitable...
2014: BioMed Research International
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