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Atrial Fibrillation Genes

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https://www.readbyqxmd.com/read/28217939/pitx2-dependent-gene-regulation-in-atrial-fibrillation-and-rhythm-control
#1
Fahima Syeda, Paulus Kirchhof, Larissa Fabritz
Atrial fibrillation (AF) is a common arrhythmia. Better prevention and treatment of AF are needed to reduce AF-associated morbidity and mortality. There are several major mechanisms that cause AF in patients, including a genetic predisposition to develop AF. Genome-wide association studies (GWAS) have identified genetic variants associated with AF populations, with the strongest hits clustering on chromosome 4q25, close to the gene for the homeobox transcription factor PITX2. The effect of these common gene variants on cardiac PITX2 mRNA is currently under study...
February 19, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28208135/abcb1-and-slco1b3-gene-polymorphisms-and-their-impact-on-digoxin-pharmacokinetics-in-atrial-fibrillation-patients-among-the-tunisian-population
#2
Nejia Tounsi, Imen Trabelsi, Emna Kerkeni, Mohamed Habib Grissa, Nizar Fredj, Adel Sekma, Malek Mzali, Ilhem Hellara, Kamel Monastiri, Wahiba Douki, Semir Nouira
BACKGROUND: Digoxin is a substrate of P-glycoprotein (P-gp) and organic anion transporting polypeptide transporters that are encoded by ABCB1 and SLCO1B3 genes. Genetic polymorphisms in both genes may explain inter-individual variability of serum digoxin concentration (SDC). This study evaluates the possible effect of the most common ABCB1 and SLCO1B3 polymorphisms on SDC after a single oral dose of digoxin in Tunisian atrial fibrillation (AF) patients. METHODS: ABCB1 and SLCO1B3 genotypes were analyzed in 102 patients with AF who received digoxin (0...
February 17, 2017: Pharmacology
https://www.readbyqxmd.com/read/28205526/association-evidence-of-ccttt-repeat-polymorphism-in-the-inos-promoter-and-the-risk-of-atrial-fibrillation-in-taiwanese
#3
Lung-An Hsu, Yung-Hsin Yeh, Wei-Jan Chen, Chi-Tai Kuo, Feng-Chun Tsai, Yi-Hsin Chan, Chun-Li Wang, Chi-Jen Chang, Hsin-Yi Tsai
Inducible nitric oxide synthase (iNOS) plays an important role in the pathogenesis of atrial fibrillation (AF). The iNOS promoter has a CCTTT-repeat length polymorphism that can determine the level of gene transcription. This study enrolled 200 AF patients and 240 controls. The length of CCTTT-repeat polymorphism in the iNOS promoter region was examined by polymerase chain reactions, with the alleles with ≤11 repeats designated as S and alleles with ≥12 repeats designated as L alleles. AF patients carried significantly higher frequencies of the LL genotype than control subjects (40...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28169950/update-about-atrial-fibrillation-genetics
#4
Alexandra Pérez-Serra, Oscar Campuzano, Ramon Brugada
PURPOSE OF REVIEW: Atrial fibrillation is an important cause of morbidity in the aging population. The mechanisms responsible for the triggering and maintenance of the chaotic atrial rhythm are still poorly understood. In this review, we will focus on the genetic aspects of atrial fibrillation, to understand causality, with special emphasis on recent studies published in the field. RECENT FINDINGS: Diseases such as hypertension, valvular heart disease, and heart failure may induce atrial fibrillation, which increases the risk of stroke and sudden cardiac death...
February 4, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28155995/sinus-node-dysfunction-and-atrial-fibrillation-a-reversible-phenomenon
#5
REVIEW
Larry R Jackson Ii, Bharath Rathakrishnan, Kristen Campbell, Kevin L Thomas, Jonathan P Piccini, Tristram Bahnson, Jonathan A Stiber, James P Daubert
BACKGROUND: Symptomatic sinus node dysfunction (SND) consists of a variety of manifestations including tachycardia-bradycardia syndrome. Atrial fibrillation (AF) is commonly associated with SND, which complicates the management of both conditions. This paper reviews the epidemiology, pathophysiology, and clinical trial data investigating therapeutic approaches for treatment of patients with both SND and AF. METHODS: The authors reviewed articles published in English describing the epidemiology, pathophysiology, and therapeutic approaches for patients with SND and AF...
February 3, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28154098/stroke-risk-factors-genetics-and-prevention
#6
Amelia K Boehme, Charles Esenwa, Mitchell S V Elkind
Stroke is a heterogeneous syndrome, and determining risk factors and treatment depends on the specific pathogenesis of stroke. Risk factors for stroke can be categorized as modifiable and nonmodifiable. Age, sex, and race/ethnicity are nonmodifiable risk factors for both ischemic and hemorrhagic stroke, while hypertension, smoking, diet, and physical inactivity are among some of the more commonly reported modifiable risk factors. More recently described risk factors and triggers of stroke include inflammatory disorders, infection, pollution, and cardiac atrial disorders independent of atrial fibrillation...
February 3, 2017: Circulation Research
https://www.readbyqxmd.com/read/28123761/clinical-disease-presentation-and-ecg-characteristics-of-lmna-mutation-carriers
#7
Laura Ollila, Kjell Nikus, Miia Holmström, Mikko Jalanko, Raija Jurkko, Maija Kaartinen, Juha Koskenvuo, Johanna Kuusisto, Satu Kärkkäinen, Eeva Palojoki, Eeva Reissell, Päivi Piirilä, Tiina Heliö
OBJECTIVE: Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5-8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among LMNA mutation carriers. METHODS: Clinical follow-up data from 27 LMNA mutation carriers and 78 patients with idiopathic DCM without an LMNA mutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls...
2017: Open Heart
https://www.readbyqxmd.com/read/28117343/selection-of-reference-genes-is-critical-for-mirna-expression-analysis-in-human-cardiac-tissue-a-focus-on-atrial-fibrillation
#8
Michela Masè, Margherita Grasso, Laura Avogaro, Elvira D'Amato, Francesco Tessarolo, Angelo Graffigna, Michela Alessandra Denti, Flavia Ravelli
MicroRNAs (miRNAs) are emerging as key regulators of complex biological processes in several cardiovascular diseases, including atrial fibrillation (AF). Reverse transcription-quantitative polymerase chain reaction is a powerful technique to quantitatively assess miRNA expression profile, but reliable results depend on proper data normalization by suitable reference genes. Despite the increasing number of studies assessing miRNAs in cardiac disease, no consensus on the best reference genes has been reached...
January 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28104484/sick-sinus-syndrome-with-hcn4-mutations-shows-early-onset-and-frequent-association-with-atrial-fibrillation-and-left-ventricular-noncompaction
#9
Taisuke Ishikawa, Seiko Ohno, Takashi Murakami, Kentaro Yoshida, Hiroyuki Mishima, Tetsuya Fukuoka, Hiroki Kimoto, Risa Sakamoto, Takafumi Ohkusa, Takeshi Aiba, Akihiko Nogami, Naokata Sumitomo, Wataru Shimizu, Koh-Ichiro Yoshiura, Hitoshi Horigome, Minoru Horie, Naomasa Makita
BACKGROUND: Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac Na channel SCN5A and pacemaker channel HCN4. We previously found that SSS with SCN5A mutations shows early onset of manifestations and male predominance. Despite recent reports on the complications of atrial fibrillation (AF) and left ventricular noncompaction (LVNC) in patients with SSS caused by HCN4 mutations, their overall clinical spectrum remains unknown. OBJECTIVE: The purpose of this study was to investigate the clinical and demographic features of SSS patients carrying HCN4 mutations...
January 17, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28096388/competition-of-calcified-calmodulin-n-lobe-and-pip2-to-an-lqt-mutation-site-in-kv7-1-channel
#10
William Sam Tobelaim, Meidan Dvir, Guy Lebel, Meng Cui, Tal Buki, Asher Peretz, Milit Marom, Yoni Haitin, Diomedes E Logothetis, Joel Alan Hirsch, Bernard Attali
Voltage-gated potassium 7.1 (Kv7.1) channel and KCNE1 protein coassembly forms the slow potassium current IKS that repolarizes the cardiac action potential. The physiological importance of the IKS channel is underscored by the existence of mutations in human Kv7.1 and KCNE1 genes, which cause cardiac arrhythmias, such as the long-QT syndrome (LQT) and atrial fibrillation. The proximal Kv7.1 C terminus (CT) binds calmodulin (CaM) and phosphatidylinositol-4,5-bisphosphate (PIP2), but the role of CaM in channel function is still unclear, and its possible interaction with PIP2 is unknown...
January 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28087289/clinical-utility-and-functional-analysis-of-variants-in-atrial-fibrillation-associated-locus-4q25
#11
Yusuke Ebana, Kouichi Ozaki, Lian Liu, Hitoshi Hachiya, Kenzo Hirao, Mitsuaki Isobe, Michiaki Kubo, Toshihiro Tanaka, Tetsushi Furukawa
BACKGROUND: Chromosome 4q25 has been repeatedly identified as atrial fibrillation (AF)-sensitive locus in multiple genome-wide association studies (GWAS) and is considered to hold some clues to AF pathogenesis. We aimed to investigate the clinical utilities in Japanese and to unveil the function of the 4q25 locus in affecting transcription of adjacent genes. METHODS: We conducted AF GWAS in Japanese population (1382 AF cases and 1478 controls) and the replication panel (1666 AF cases and 1229 controls) with detailed clinical information which showed the acceleration of AF onset...
January 10, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28067321/methylome-wide-association-study-of-atrial-fibrillation-in-framingham-heart-study
#12
Honghuang Lin, Xiaoyan Yin, Zhijun Xie, Kathryn L Lunetta, Steven A Lubitz, Martin G Larson, Darae Ko, Jared W Magnani, Michael M Mendelson, Chunyu Liu, David D McManus, Daniel Levy, Patrick T Ellinor, Emelia J Benjamin
Atrial fibrillation (AF) is the most common cardiac arrhythmia, but little is known about the molecular mechanisms associated with AF arrhythmogenesis. DNA methylation is an important epigenetic mechanism that regulates gene expression and downstream biological processes. We hypothesize that DNA methylation might play an important role in the susceptibility to develop AF. A total of 2,639 participants from the Offspring Cohort of Framingham Heart Study were enrolled in the current study. These participants included 183 participants with prevalent AF and 220 with incident AF during up to 9 years follow up...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28056232/-analysis-of-cardiac-troponin-c-gene-tnnc1-c-g175c-mutation-in-a-chinese-pedigree-with-familial-hypertrophic-cardiomyopathy-and-the-correlation-between-genotype-and-phenotype
#13
X B Xing, F S Liu, F Wang, L Song, W N Zhao, J Liu, K C Zhang, Y Z Zhu, X F Shang, R Li, Y Liang
Objective: To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy (HCM )focusing on the cardiac troponin C gene TNNC1 c. G175C mutation. Methods: All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People's Hospital of Qingdao in February 2005 and 200 healthy volunteers were included in this study. The coding exons of 30 hypertrophic cardiomyopathy associated genes were identified by whole exons amplification and high-throughput sequencing in the proband, and the identified mutation were further detected through bi-directional Sanger sequencing in all family members and 200 healthy volunteers...
December 24, 2016: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28055231/effect-of-interleukin-27-genetic-variants-on-atrial-fibrillation-susceptibility
#14
Yu Chen, Jianhui Zeng, Rui Zhang, Linjun Zeng, Yajiao Li, Hong Wei, Qing Yang
AIM: Atrial fibrillation (AF) is the most common cardiac arrhythmia. No data are available on the association between the polymorphisms of interleukin-27 (IL-27) and AF in the Chinese Han population. This study was performed to determine if polymorphisms within the IL-27 gene are involved in the AF susceptibility. METHODS: Two hundred seventy AF patients and 303 healthy individuals were examined for two IL-27 gene polymorphisms (rs153109 and rs17855750) by polymerase chain reaction-restriction fragment length polymorphism methodology...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28007413/association-of-zfhx3-gene-variation-with-atrial-fibrillation-cerebral-infarction-and-lung-thromboembolism-an-autopsy-study
#15
Khin Thet Thet Zaw, Noriko Sato, Shinobu Ikeda, Kaung Si Thu, Makiko Naka Mieno, Tomio Arai, Seijiro Mori, Tetsushi Furukawa, Tetsuo Sasano, Motoji Sawabe, Masashi Tanaka, Masaaki Muramatsu
AIM: We aimed to study a single nucleotide polymorphism (SNP), rs2106261, in the transcription factor gene, ZFHX3, in atrial fibrillation (AF) and other related phenotypes by phenome scanning in a Japanese population. METHOD: We retrieved consecutive autopsy data (n=2433, mean age=80 years) from the Japanese SNP database for geriatric diseases (JG-SNP). Clinical data, including an AF diagnosis, were collected from medical charts. Genotyping was performed with the DNA chip method...
December 19, 2016: Journal of Cardiology
https://www.readbyqxmd.com/read/28005193/trek-1-k2p2-1-k-channels-are-suppressed-in-patients-with-atrial-fibrillation-and-heart-failure-and-provide-therapeutic-targets-for-rhythm-control
#16
Patrick Lugenbiel, Fabian Wenz, Pascal Syren, Pascal Geschwill, Katharina Govorov, Claudia Seyler, Derk Frank, Patrick A Schweizer, Jennifer Franke, Tanja Weis, Claus Bruehl, Bastian Schmack, Arjang Ruhparwar, Matthias Karck, Norbert Frey, Hugo A Katus, Dierk Thomas
Atrial fibrillation (AF) is the most common cardiac arrhythmia. Concomitant heart failure (HF) poses a particular therapeutic challenge and is associated with prolonged atrial electrical refractoriness compared with non-failing hearts. We hypothesized that downregulation of atrial repolarizing TREK-1 (K2P2.1) K(+) channels contributes to electrical remodeling during AF with HF, and that TREK-1 gene transfer would provide rhythm control via normalization of atrial effective refractory periods in this AF subset...
January 2017: Basic Research in Cardiology
https://www.readbyqxmd.com/read/27974350/genetic-obesity-and-the-risk-of-atrial-fibrillation-causal-estimates-from-mendelian-randomization
#17
Neal A Chatterjee, Franco Giulianini, Bastiaan Geelhoed, Kathryn L Lunetta, Jeffrey R Misialek, Maartje N Niemeijer, Michiel Rienstra, Lynda M Rose, Albert V Smith, Dan E Arking, Patrick T Ellinor, Jan Heeringa, Honghuang Lin, Steven A Lubitz, Elsayed Z Soliman, Niek Verweij, Alvaro Alonso, Emelia J Benjamin, Vilmundur Gudnason, Bruno H C Stricker, Pim Van Der Harst, Daniel I Chasman, Christine M Albert
BACKGROUND: Observational studies have identified an association between body mass index (BMI) and incident atrial fibrillation (AF). Inferring causality from observational studies, however, is subject to residual confounding, reverse causation, and bias. The primary objective of this study was to evaluate the causal association between BMI and AF by using genetic predictors of BMI. METHODS: We identified 51 646 individuals of European ancestry without AF at baseline from 7 prospective population-based cohorts initiated between 1987 and 2002 in the United States, Iceland, and the Netherlands with incident AF ascertained between 1987 and 2012...
February 21, 2017: Circulation
https://www.readbyqxmd.com/read/27930986/plant-derived-flavone-apigenin-the-small-molecule-with-promising-activity-against-therapeutically-resistant-prostate-cancer
#18
REVIEW
Shabir Ahmad Ganai
Prostate cancer is the second leading cause of cancer related deaths in men in the United States. Mounting evidences suggest that in the pathophysiology of prostate cancer epigenetic modifications play a considerable role. Histone deacetylases (HDACs) have strong crosstalk with prostate cancer progression as they regulate various genes meant for tumour suppression. HDACs are emerging as striking molecular targets for anticancer drugs and therapy as their aberrant expression has been implicated in several cancers...
January 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27927211/genetic-variations-of-aldehyde-dehydrogenase-2-and-alcohol-dehydrogenase-1b-are-associated-with-the-etiology-of-atrial-fibrillation-in-japanese
#19
Yukiko Nakano, Hidenori Ochi, Yuko Onohara, Akinori Sairaku, Takehito Tokuyama, Hiroya Matsumura, Shunsuke Tomomori, Michitaka Amioka, Naoya Hironomobe, Chikaaki Motoda, Nozomu Oda, Kazuaki Chayama, Che-Hong Chen, Eric R Gross, Daria Mochly-Rosen, Yasuki Kihara
BACKGROUND: Alcohol consumption and oxidative stress are well-known risk factors for developing atrial fibrillation (AF). Single nucleotide polymorphisms (SNPs) of alcohol dehydrogenase (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) genes encoding enzymes of alcohol and reactive aldehyde metabolism, respectively, are prevalent among East Asians. Here, we examined whether these SNPs were associated with AF in Japanese patients. METHODS AND RESULTS: Five hundred seventy-seven Japanese patients with AF undergoing catheter ablation and 1935 controls at Hiroshima University Hospital were studied...
December 7, 2016: Journal of Biomedical Science
https://www.readbyqxmd.com/read/27923400/allele-specific-expression-in-the-human-heart-and-its-application-to-postoperative-atrial-fibrillation-and-myocardial-ischemia
#20
Martin I Sigurdsson, Louis Saddic, Mahyar Heydarpour, Tzuu-Wang Chang, Prem Shekar, Sary Aranki, Gregory S Couper, Stanton K Shernan, Jon G Seidman, Simon C Body, Jochen D Muehlschlegel
BACKGROUND: Allele-specific expression (ASE) is differential expression of each of the two chromosomal alleles of an autosomal gene. We assessed ASE patterns in the human left atrium (LA, n = 62) and paired samples from the left ventricle (LV, n = 76) before and after ischemia, and tested the utility of differential ASE to identify genes associated with postoperative atrial fibrillation (poAF) and myocardial ischemia. METHODS: Following genotyping from whole blood and whole-genome sequencing of LA and LV samples, we called ASE using sequences overlapping heterozygous SNPs using rigorous quality control to minimize false ASE calling...
December 6, 2016: Genome Medicine
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