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Cardiovascular genetic risk testing

Yi-Chen Yu, Ying Jiang, Meng-Meng Yang, Sai-Nan He, Xia Xi, Ye-Tao Xu, Wen-Sheng Hu, Qiong Luo
BACKGROUND: Increasing epidemiological studies have confirmed the association between maternal preeclampsia and elevated blood pressure in their offspring. Though case-control or cohort studies have demonstrated long-term outcomes for the offspring of preeclampsia, it is still a question that how these changes were caused by genetic reasons or by preeclampsia itself. OBJECTIVE: In our study, we explored the potential epigenetic regulation of delta-like homolog 1-maternally expressed gene 3 (DLK1-MEG3) region in human umbilical vein endothelial cells (HUVECs), and its connection with endothelium-derived factors...
September 17, 2018: Journal of Hypertension
Yoshiji Yamada, Kimihiko Kato, Mitsutoshi Oguri, Hideki Horibe, Tetsuo Fujimaki, Yoshiki Yasukochi, Ichiro Takeuchi, Jun Sakuma
Early‑onset cardiovascular and renal diseases have a strong genetic component. In the present study, exome‑wide association studies (EWASs) were performed to identify genetic variants that confer susceptibility to early‑onset myocardial infarction (MI), hypertension, or chronic kidney disease (CKD) in Japanese individuals. A total of 8,093 individuals aged ≤65 years was enrolled in the study. The EWASs for MI, hypertension, and CKD were performed in 6,926 subjects (1,152 cases, 5,774 controls), 8,080 subjects (3,444 cases, 4,636 controls), and 2,556 subjects (1,051 cases, 1,505 controls), respectively...
November 2018: International Journal of Molecular Medicine
Mary E Haas, Krishna G Aragam, Connor A Emdin, Alexander G Bick, Gibran Hemani, George Davey Smith, Sekar Kathiresan
Excretion of albumin in urine, or albuminuria, is associated with the development of multiple cardiovascular and metabolic diseases. However, whether pathways leading to albuminuria are causal for cardiometabolic diseases is unclear. We addressed this question using a Mendelian randomization framework in the UK Biobank, a large population-based cohort. We first performed a genome-wide association study for albuminuria in 382,500 individuals and identified 32 new albuminuria loci. We constructed albuminuria genetic risk scores and tested for association with cardiometabolic diseases...
September 6, 2018: American Journal of Human Genetics
Luke C Pilling, Janice L Atkins, George A Kuchel, Luigi Ferrucci, David Melzer
Higher Red Blood Cell Distribution Width (RDW or anisocytosis) predicts incident coronary artery disease (CAD) plus all-cause and cardiovascular mortality, but its predictive value for other common diseases in healthy volunteers is less clear. We aimed to determine the shorter and longer term associations between RDW and incident common conditions in participants free of baseline disease, followed for 9 years. We undertook a prospective analysis of RDW% using 240,477 healthy UK Biobank study volunteers aged 40-70 years at baseline, with outcomes ascertained during follow-up (≤9 years)...
2018: PloS One
Fahima Dossa, Maria C Cusimano, Rinku Sutradhar, Kelly Metcalfe, Tari Little, Jordan Lerner-Ellis, Andrea Eisen, Wendy S Meschino, Nancy N Baxter
INTRODUCTION: Women who have pathogenic mutations in the BRCA1 and BRCA2 genes are at greatly increased risks for breast and ovarian cancers. Although risk-reduction strategies can be undertaken by these women, knowledge regarding the uptake of these strategies is limited. Additionally, the healthcare behaviours of women who receive inconclusive test results are not known. This study protocol describes the creation of a retrospective cohort of women who have undergone genetic testing for BRCA1 and BRCA2 , linking genetic test results with administrative data to quantify the uptake of risk-reduction strategies and to assess long-term cancer and non-cancer outcomes after genetic testing...
September 4, 2018: BMJ Open
Xianxia Liu, Lei Chen, Yuansheng Zhang, Xuezheng Wu, Yong Zhao, Xiaoyan Wu, Weiwei Chen, Cengfan Wu, Yuewu Chen
BACKGROUND: Hypertension is the most important risk factor for cardiovascular and cerebrovascular diseases. The study found that CXCL12 and CNNM2 gene affects the risk of coronary heart disease, but the relationship with hypertension is unclear. The aim of this research is to explore the association between CXCL12 and CNNM2 gene and hypertension in Chinese Han population. METHODS: Genotypes at 11 CHD-relevant SNPs were determined in 350 Hypertension patients and 483 controls in Chinese Han population using χ2 test, genetic model analysis and haplotype analysis...
October 30, 2018: Gene
Christian A Bannister, Julian P Halcox, Craig J Currie, Alun Preece, Irena Spasić
BACKGROUND: Genetic programming (GP) is an evolutionary computing methodology capable of identifying complex, non-linear patterns in large data sets. Despite the potential advantages of GP over more typical, frequentist statistical approach methods, its applications to survival analyses are rare, at best. The aim of this study was to determine the utility of GP for the automatic development of clinical prediction models. METHODS: We compared GP against the commonly used Cox regression technique in terms of the development and performance of a cardiovascular risk score using data from the SMART study, a prospective cohort study of patients with symptomatic cardiovascular disease...
2018: PloS One
Usha Rani, K S Praveen Kumar, Munikrishna Munisamaiah, Deepa Rajesh, Sharath Balakrishna
OBJECTIVES: SNP rs2200733 located near PITX2 gene is associated with the risk of atrial fibrillation. Preeclamptic women are at increased risk of developing cardiovascular disease like atrial fibrillation. Whether this translates into an association between SNP rs2200733 and preeclampsia is not known. Therefore, we determined the association of SNP rs2200733 (C/T) with the risk of preeclampsia. STUDY DESIGN: A hospital based prospective case-control study involving 585 pregnant women of whom 285 were preeclamptic and 300 were normotensive...
July 2018: Pregnancy Hypertension
Jenica N Upshaw
Patients with breast cancer have higher rates of cardiovascular disease than age-matched controls. Anthracyclines and trastuzumab increase the risk of heart failure (HF) and radiation increases the risk of ischemic heart disease, valvular disease and HF. Older age, low normal ejection fraction, history of coronary artery disease (CAD), cardiac risk factors, higher cumulative anthracycline exposure, combination anthracycline and trastuzumab and/or radiation all increase the risk of cardiac events post treatment...
August 2018: Gland Surgery
Radmila Karan, Suzana Cvjeticanin, Natasa Kovacevic-Kostic, Dejan Nikolic, Milos Velinovic, Vladimir Milicevic, Biljana Obrenovic-Kircanski
BACKGROUND: The aim of our study was to evaluate the degree of genetic homozygosity in the group of patients with coronary artery disease (CAD), as well as to evaluate morphogenetic variability in CAD patients regarding the presence of investigated risk factors (RF) compared to a control sample of individuals. Additionally, we aimed to evaluate the distribution of ABO blood type frequencies between tested samples of individuals. METHODS: This study analyzed individual phenotype and morphogenetic variability of 17 homozygously-recessive characteristics (HRC), by using HRC test in a sample of 148 individuals in CAD patients group and 156 individuals in the control group...
August 23, 2018: Journal of Clinical Medicine
Marcin Kosmalski, Łukasz Mokros, Piotr Kuna, Andrzej Witusik, Tadeusz Pietras
Non-alcoholic fatty liver disease (NAFLD) is one of the most common pathologies of that organ. The development of the disease involves a variety of mechanisms, including insulin resistance, oxidative stress, endoplasmic reticulum stress, endotoxins from the intestinal flora and genetic predispositions. Additionally, clinical data suggest that the presence of NAFLD is associated with excessive activation of the immune system. For practical purposes, attention should be paid to the moment when the subjects predisposed to NAFLD develop inflammatory infiltration and signs of fibrosis in the liver (non-alcoholic steatohepatitis - NASH)...
2018: Central-European Journal of Immunology
Kuiying Yu, Tao Zhang, Xuhua Li
BACKGROUND: We are interested in comprehensively evaluating the potential genetic influence of rs9332978 A/G, rs1126742 T/C, and rs9333025 G/A polymorphisms of CYP4A11 (cytochrome P450 family 4, subfamily A, member 11) in the risk of developing cardiovascular and cerebrovascular diseases. METHODS: A meta-analysis was carried out using articles obtained from online databases and Stata/SE 12.0 software. We primarily used a P value of association test (Passociation ) and odds ratios (OR) to assess the genetic relationships...
August 22, 2018: Annals of Human Genetics
Babken Asatryan, Argelia Medeiros-Domingo
Cardiomyopathies are primarily genetic disorders of the myocardium associated with higher risk of life-threatening cardiac arrhythmias, heart failure, and sudden cardiac death. The evolving knowledge in genomic medicine during the last decade has reshaped our understanding of cardiomyopathies as diseases of multifactorial nature and complex pathophysiology. Genetic testing in cardiomyopathies has subsequently grown from primarily a research tool into an essential clinical evaluation piece with important clinical implications for patients and their families...
October 2018: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
N Legdeur, M W Heymans, H C Comijs, M Huisman, A B Maier, P J Visser
BACKGROUND: Risk factors for cognitive decline might depend on chronological age. The aim of the study was to explore the age dependency of risk factors for cognitive decline in cognitively healthy subjects aged 55-85 years at baseline. METHODS: We included 2527 cognitively healthy subjects from the Longitudinal Aging Study Amsterdam (LASA). Median follow-up was 9.1 (IQR: 3.2-19.0) years. The association of genetic and cardiovascular risk factors, depressive symptoms, inflammation markers and lifestyle risk factors with decline in MMSE and memory function was tested using spline regression analyses...
August 20, 2018: BMC Geriatrics
Alessandra Feraco, Andrea Armani, Riccardo Urbanet, Aurelie Nguyen Dinh Cat, Vincenzo Marzolla, Frederic Jaisser, Massimiliano Caprio
Obesity is a major risk factor that contribute to the development of cardiovascular disease and type 2 diabetes. Mineralocorticoid receptor (MR) expression is increased in the adipose tissue of obese patients and several studies provide evidence that MR pharmacological antagonism improves glucose metabolism in genetic and diet-induced mouse models of obesity. In order to investigate whether the lack of adipocyte MR is sufficient to explain these beneficial metabolic effects, we generated a mouse model with inducible adipocyte-specific deletion of Nr3c2 gene encoding MR (adipo-MRKO)...
August 18, 2018: Journal of Endocrinology
Andreia Machado Miranda, Josiane Steluti, Marina Maintinguer Norde, Regina Mara Fisberg, Dirce Maria Marchioni
BACKGROUND & AIM: Recent genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) that are associated with high blood pressure (BP). However, whether coffee consumption interacts with the genetic variants related to BP is yet unclear. Thus, this study aimed to investigate whether the association between genetic risk core (GRS) and blood pressure was modified by usual coffee consumption. METHODS: Data were from the 'Health Survey of São Paulo' a cross-sectional population-based survey, among 533 participants aged 20 years or older...
August 4, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
Benjamin M Helm, Mark D Ayers, Adam C Kean
Clinical genetics services continue to expand into diverse medical specialties. An ever-increasing number of non-genetics providers are independently ordering genetic tests, interpreting results, and at times, making diagnoses leading to patient care recommendations. Non-genetics healthcare providers can help increase patient access to these services, but a potential pitfall occurs when these providers either do not have adequate expertise with genetic variant interpretation or do not have access to multi-disciplinary teams including genetic counselors or clinical geneticists for advanced review...
August 16, 2018: Journal of Genetic Counseling
Chen Yao, George Chen, Ci Song, Joshua Keefe, Michael Mendelson, Tianxiao Huan, Benjamin B Sun, Annika Laser, Joseph C Maranville, Hongsheng Wu, Jennifer E Ho, Paul Courchesne, Asya Lyass, Martin G Larson, Christian Gieger, Johannes Graumann, Andrew D Johnson, John Danesh, Heiko Runz, Shih-Jen Hwang, Chunyu Liu, Adam S Butterworth, Karsten Suhre, Daniel Levy
Identifying genetic variants associated with circulating protein concentrations (protein quantitative trait loci; pQTLs) and integrating them with variants from genome-wide association studies (GWAS) may illuminate the proteome's causal role in disease and bridge a knowledge gap regarding SNP-disease associations. We provide the results of GWAS of 71 high-value cardiovascular disease proteins in 6861 Framingham Heart Study participants and independent external replication. We report the mapping of over 16,000 pQTL variants and their functional relevance...
August 15, 2018: Nature Communications
Jie-Ya Wang, Yan-Jiao Zhang, He Li, Xiao-Lei Hu, Mu-Peng Li, Pei-Yuan Song, Qi-Lin Ma, Li-Ming Peng, Xiao-Ping Chen
BACKGROUND: Dual antiplatelet therapy (DAPT) with aspirin and clopidogrel is a recommended treatment for coronary artery disease (CAD) patients undergoing percutaneous coronary intervention (PCI) to reduce the rate of ischemic events and stent thrombosis. However, high on-treatment platelet reactivity (HTPR) during clopidogrel therapy for some patients may lead to outcome failure and occurrence of cardiovascular events. Amounts of studies have proved that genetic factors may contribute to HTPR...
August 7, 2018: Gene
Nienke M A Idzerda, Michelle J Pena, Hiddo J L Heerspink
PURPOSE OF REVIEW: In the last decade many attempts have been made to reduce the high residual risk of end-stage kidney disease and cardiovascular disease in patients with diabetic kidney disease by targeting a variety of risk markers. Subsequent analyses revealed that the variation in individual drug response to the tested interventions partly explains why these trials did not result in additional kidney or cardiovascular protection. This review summarizes recent insights regarding individual variation in drug response...
August 7, 2018: Current Opinion in Nephrology and Hypertension
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