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cardiovascular disease genetic risk assessment

Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Francesco Caso, Marco Tasso, Pasquale Ambrosino, Matteo Nicola, Dario Di Minno, Roberta Lupoli, Livio Criscuolo, Paolo Caso, Francesco Ursini, Antonio Del Puente, Raffaele Scarpa, Luisa Costa, Rosario Peluso
BACKGROUND: Psoriatic arthritis is a chronic inflammatory arthropathy that affects 14%-30% of patients with skin and/or nail psoriasis and leading to severe physical limitations and disability. It has been included in the group of spondyloarthropathy with which it shares clinical, radiologic, and serologic features in addition to familial and genetic relationship. Beyond skin and joint involvement, psoriatic arthritis is characterized by a high prevalence of extra-articular manifestation and comorbidities, such as autoimmune, infectious and neoplastic diseases...
March 13, 2018: Reviews on Recent Clinical Trials
John N Booth, Man Li, Daichi Shimbo, Rachel Hess, Marguerite R Irvin, Rick Kittles, James G Wilson, Lynn B Jorde, Alfred K Cheung, Leslie A Lange, Ethan M Lange, Yuichiro Yano, Paul Muntner, Adam P Bress
Background: African Americans have a higher prevalence of nocturnal hypertension and non-dipping blood pressure than European Americans, but the genetic contribution to these racial differences remains unclear. We assessed the association of the percentage West African genetic ancestry with nocturnal hypertension and non-dipping blood pressure in 932 African Americans from the Jackson Heart Study. Methods: Using percentage West African ancestry determined from 389 ancestry informative markers, participants were categorized into tertiles (Tertile 1 [low]: <79...
March 8, 2018: American Journal of Hypertension
Steven E Nissen, Sreekumar G Pillai, Stephen J Nicholls, Kathy Wolski, Jeffrey S Riesmeyer, Govinda J Weerakkody, Wendra M Foster, Ellen McErlean, Lin Li, Pallav Bhatnagar, Giacomo Ruotolo, A Michael Lincoff
Importance: A pharmacogenetic analysis of dalcetrapib, a cholesteryl ester transfer protein inhibitor, reported an association between a single-nucleotide polymorphism (SNP) in the ADCY9 gene (rs1967309) and reduction in major adverse cardiovascular events despite a neutral result for the overall trial. Objective: To determine whether the association between the SNP in the ADCY9 gene and a reduction in major adverse cardiovascular events could be replicated for another cholesteryl ester transfer protein inhibitor, evacetrapib, in patients with high-risk vascular disease...
March 11, 2018: JAMA Cardiology
A Mattina, D Rosenbaum, R Bittar, D Bonnefont-Rousselot, D Noto, M Averna, E Bruckert, P Giral
BACKGROUND AND AIM: Lipoprotein-associated phospholipase A2 (Lp-PLA2 ) plays a key role in atherosclerosis development. It is considered a marker of increased risk of cardiovascular disease (CVD) and plaque vulnerability. Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol and a higher prevalence of early CVD. Our aim was to evaluate the differences in Lp-PLA2 activity in a population of hypercholesterolemic patients with and without definite FH...
February 2, 2018: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
Panna Tandon, Rebecca Wafer, James E N Minchin
Adipose morphology is defined as the number and size distribution of adipocytes (fat cells) within adipose tissue. Adipose tissue with fewer but larger adipocytes is said to have a 'hypertrophic' morphology, whereas adipose with many adipocytes of a smaller size is said to have a 'hyperplastic' morphology. Hypertrophic adipose morphology is positively associated with insulin resistance, diabetes and cardiovascular disease. By contrast, hyperplastic morphology is associated with improved metabolic parameters...
March 7, 2018: Journal of Experimental Biology
Bradley J Toghill, Athanasios Saratzis, Peter J Freeman, Nicolas Sylvius, Matthew J Bown
Background: Abdominal aortic aneurysm (AAA) is a deadly cardiovascular disease characterised by the gradual, irreversible dilation of the abdominal aorta. AAA is a complex genetic disease but little is known about the role of epigenetics. Our objective was to determine if global DNA methylation and CpG-specific methylation at known AAA risk loci is associated with AAA, and the functional effects of methylation changes. Results: We assessed global methylation in peripheral blood mononuclear cell DNA from 92 individuals with AAA and 93 controls using enzyme-linked immunosorbent assays, identifying hyper-methylation in those with large AAA and a positive linear association with AAA diameter ( P  < 0...
2018: Clinical Epigenetics
Maira Giannelou, Andrianos Nezos, Sofia Fragkioudaki, Dimitra Kasara, Kyriaki Maselou, Nikolaos Drakoulis, Dimitris Ioakeimidis, Haralampos M Moutsopoulos, Clio P Mavragani
OBJECTIVE: Elevated concentrations of homocysteine have been previously identified as an independent risk factor for subclinical atherosclerosis in patients with systemic lupus erythematosus (SLE). Given that heightened homocysteine levels are known to be strongly influenced by genetic factors, in the current study we investigated the contribution of high homocysteine levels as well as of functional polymorphisms of the gene encoding for the enzyme 5, 10- methylenetetrahydrofolate reductase to atherosclerotic disease characterizing SLE patients...
February 28, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Nahla Khawaja, Jawad Abu-Shennar, Mohammed Saleh, Said S Dahbour, Yousef S Khader, Kamel M Ajlouni
Background: Peripheral neuropathy is one of the most common microvascular complication of diabetes mellitus. This study is conducted to determine the prevalence of diabetic peripheral neuropathy (DPN) and its associated factors among patients with type 2 diabetes mellitus in Jordan. Methods: A cross-sectional study was conducted at the National Center for Diabetes, Endocrinology and Genetics, Jordan. A total of 1003 patients with type 2 diabetes were recruited. Data were collected from participants during a face-to-face structured interview...
2018: Diabetology & Metabolic Syndrome
Lorenzo Falsetti, Giovanna Viticchi, Laura Buratti, Francesco Grigioni, Alessandro Capucci, Mauro Silvestrini
BACKGROUND: An association between non-valvular atrial fibrillation (NVAF) and cognitive impairment has been hypothesized. OBJECTIVE: We sought to evaluate whether and how permanent NVAF (pNVAF) is associated with progression of cognitive impairment in patients with Alzheimer's disease (AD) in the presence of vascular or genetic risk factors. METHODS: 310 consecutive patients affected by mild-moderate AD were included and followed for a 24-month period...
2018: Journal of Alzheimer's Disease: JAD
N Kotova, V Maichuk, O Fedorenko
Neural tube defects occupy second place in frequency after the defects of the cardiovascular system. The folate metabolism violation and hyperhomocysteinemia in women are proved to be the leading risk factors for the NTD of the fetus. Polymorphism of the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) is a genetic determinant of folate metabolism violation. Admission of folic acid in a standard dose of 0.4 mg and / or the use of fortified foods does not allow reaching the protective level of folic acid if there is a mutation of the MTHFR gene or when several risk factors combine, which requires a higher dose of folic acid...
January 2018: Georgian Medical News
Matina Kouvari, Mary Yannakoulia, Kyriakos Souliotis, Demosthenes B Panagiotakos
The recognition of cardiovascular disease (CVD) as a "male" privilege has been a commonly held concept. However, emerging data describe another reality. Heterogeneities have been convincingly demonstrated regarding CVD manifestations, risk factor burden, and prognosis between males and females. The aim of the present narrative review was to highlight sex- and gender-related discrepancies in primary and secondary CVD prevention, underscoring plausible underlying mechanisms. Manifestation of CVD in women is characterized by atypical symptoms/signs and inadequately studied pathophysiology features challenging accurate diagnosis and effective treatment...
January 1, 2018: Angiology
Tao Zhang, Kuiying Yu, Xuhua Li
BACKGROUND: Inconsistent conclusions have been reported for the genetic relationship between CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2) polymorphisms and the susceptibility to cardiovascular and cerebrovascular diseases. METHODS: We performed a meta-analysis to assess the potential role of rs1558139 C/T and rs2108622 G/A polymorphisms of CYP4F2 in the risks of cardiovascular and cerebrovascular diseases. The retrieval of four databases, including PubMed, Web of Science (WOS), China National Knowledge Infrastructure (CNKI) and WANFANG DATA, was conducted...
February 9, 2018: BMC Cardiovascular Disorders
Mariko Harada-Shiba, Takao Ohta, Akira Ohtake, Masatsune Ogura, Kazushige Dobashi, Atsushi Nohara, Shizuya Yamashita, Koutaro Yokote
This paper describes consensus statement by Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia (FH) in order to improve prognosis of FH.FH is a common genetic disease caused by mutations in genes related to low density lipoprotein (LDL) receptor pathway. Because patients with FH have high LDL cholesterol (LDL-C) levels from the birth, atherosclerosis begins and develops during childhood which determines the prognosis...
February 6, 2018: Journal of Atherosclerosis and Thrombosis
Daniel Mønsted Shabanzadeh
Gallstone disease is highly prevalent in Denmark and other countries of northern Europe, and cholecystectomy for the treatment of clinical gallstone disease is one the most frequently performed surgical procedures. Research efforts for the identification of mechanisms involved in gallstone formation have a long history and the most established include bile cholesterol saturation, gallbladder motor function, and the enterohepatic circulation of secondary bile salts produced by fecal microbiota. A small number of determinants that are believed to affect these mechanisms have been identified until now...
February 2018: Danish Medical Journal
Sharon Li Ting Pek, Sanjaya Dissanayake, Jessie Choi Wan Fong, Michelle Xueqin Lin, Eric Zit Liang Chan, Justin I-Shing Tang, Chee Wan Lee, Hean Yee Ong, Chee Fang Sum, Su Chi Lim, Subramaniam Tavintharan
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by the presence of high plasma low density lipoproteins cholesterol (LDL-c). Patients with FH, with mutation detected, are at increased risk of premature cardiovascular disease compared to those without mutations. The aim of the study was to assess the type of mutations in patients, clinically diagnosed with FH in Singapore. METHODS: Patients (probands) with untreated/highest on-treatment LDL-c>4...
December 27, 2017: Atherosclerosis
Michelle L Wright, Erin B Ware, Jennifer A Smith, Sharon L R Kardia, Jacquelyn Y Taylor
INTRODUCTION: Plasma concentrations of lipids (i.e., total cholesterol, high-density cholesterol, low-density cholesterol, and triglycerides) are amenable to therapeutic intervention and remain important factors for assessing risk of cardiovascular diseases. Some of the observed variability in serum lipid concentrations has been associated with genetic and epigenetic variants among cohorts with European ancestry (EA). Serum lipid levels have also been associated with genetic variants in multiethnic populations...
January 1, 2018: Biological Research for Nursing
I Ramasamy
The role of the clinical laboratory is evolving to provide more information to clinicians to assess cardiovascular disease (CVD) risk and target therapy more effectively. Current routine methods to measure LDL-cholesterol (LDL-C), the Friedewald calculation, ultracentrifugation, electrophoresis and homogeneous direct methods have established limitations. Studies suggest that LDL and HDL size or particle concentration are alternative methods to predict future CVD risk. At this time there is no consensus role for lipoprotein particle or subclasses in CVD risk assessment...
January 11, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Raffaele Maletta, Nicoletta Smirne, Livia Bernardi, Maria Anfossi, Maura Gallo, Maria Elena Conidi, Rosanna Colao, Gianfranco Puccio, Sabrina A M Curcio, Valentina Laganà, Francesca Frangipane, Chiara Cupidi, Maria Mirabelli, Franca Vasso, Giusi Torchia, Maria G Muraca, Raffaele Di Lorenzo, Giuseppina Rose, Alberto Montesanto, Giuseppe Passarino, Amalia C Bruni
BACKGROUND: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large numbers of samples in different populations have not provided clear results to date, because a trans-ethnic shift of risk genotypes in different populations is often observed. OBJECTIVES: To determine genotypes allele frequencies of the polymorphisms most frequently identified to be correlated with cardio-cerebrovascular disease and AD in a Southern Italy population and to investigate their possible association with dementia...
2018: Journal of Alzheimer's Disease: JAD
Selcuk Kucukseymen, Ayhan Hilmi Cekin, Nermin Bayar, Sakir Arslan, Elif Uygur Kucukseymen, Tanju Mercan, Semir Ozdemir
BACKGROUND: Celiac disease (CD), a serious autoimmune disorder that occurs in people who are genetically predisposed, is induced by dietary gluten intake and affects primarily the small intestine. Many studies have identified an increased risk of cardiovascular problems in patients with CD. Moreover, these patients are susceptible to certain liver diseases, as well as fibrosis. OBJECTIVE: The aim of this study was to assess the presence of fibrosis using the De Ritis ratio, determining its effect on the electromechanical features of the left atrium and its susceptibility to atrial fibrillation (AF) in patients with CD...
2018: PloS One
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