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stroke genetics

Mengxuan Tang, Davis C Ryman, Eric McDade, Mateusz S Jasielec, Virginia D Buckles, Nigel J Cairns, Anne M Fagan, Alison Goate, Daniel S Marcus, Chengjie Xiong, Ricardo F Allegri, Jasmeer P Chhatwal, Adrian Danek, Martin R Farlow, Nick C Fox, Bernardino Ghetti, Neill R Graff-Radford, Christopher Laske, Ralph N Martins, Colin L Masters, Richard P Mayeux, John M Ringman, Martin N Rossor, Stephen P Salloway, Peter R Schofield, John C Morris, Randall J Bateman
BACKGROUND: Autosomal dominant familial Alzheimer's disease (ADAD) is a rare disorder with non-amnestic neurological symptoms in some clinical presentations. We aimed to compile and compare data from symptomatic participants in the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS) with those reported in the literature to estimate the prevalences of non-amnestic neurological symptoms in participants with ADAD. METHODS: We prospectively collected data from the DIAN-OBS database, which recruited participants from study centres in the USA, Europe, and Australia, between Feb 29, 2008, and July 1, 2014...
October 21, 2016: Lancet Neurology
Shuyu Zhou, Biyang Cai, Zhizhong Zhang, Yumeng Zhang, Li Wang, Keting Liu, Hao Zhang, Lingli Sun, Huan Cai, Guangming Lu, Xinfeng Liu, Gelin Xu
AIM: CDKN2A/2B near chromosome 9p21 has been proposed as a potential genetic etiology for both atherosclerosis and arterial calcification. DNA methylation, which can change the expression of CDKN2A/2B, may be an underlying mechanism for this association. This study aimed to evaluate whether CDKN2A/2B methylation is related to aortic arch calcification (AAC) in patients with ischemic stroke. METHODS: DNA methylation levels of CDKN2A/2B was measured using venous blood samples in 322 patients with ischemic stroke...
October 21, 2016: Journal of Atherosclerosis and Thrombosis
Shouqing Huang, Lianhua Yin, Yihui Xu, Chunyan Zou, Lidian Chen
Ischemic stroke is a common cause of death due to obstructed blood supply of the brain. Despite growing numbers of research, etiology underlying ischemic stroke remains complex and elusive. Elevated plasma homocysteine has been known as a risk factor for ischemic stroke. Recently, a genome-wide association study reported association between rs548987 of SLC17A3 and homocysteine. Given existing relation between homocysteine and ischemic stroke, SLC17A3 was believed to be a promising candidate gene of ischemic stroke...
November 15, 2016: Journal of the Neurological Sciences
Xiaoling Yuan, Zifeng Dong
BACKGROUND Ischemic stroke (IS) is a leading cause of disability and death and NOTCH3 as a gene related with cardiac-cerebral vascular disease plays a vital role in IS development. However, the reports about the effect of genetic variants in NOTCH3 gene on IS are still few. MATERIAL AND METHODS In order to explore the association between NOTCH3 polymorphisms and IS, 134 patients with IS and 115 controls were enrolled in this case-control study. Polymerase chain reaction was used to do the genotyping of polymorphisms...
October 22, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Franziska Hopfner, Dietrich Haubenberger, Wendy R Galpern, Katrina Gwinn, Ashlee Van't Veer, Samantha White, Kailash Bhatia, Charles H Adler, David Eidelberg, William Ondo, Glenn T Stebbins, Caroline M Tanner, Rick C Helmich, Fred A Lenz, Roy V Sillitoe, David Vaillancourt, Jerrold L Vitek, Elan D Louis, Holly A Shill, Matthew P Frosch, Tatiana Foroud, Gregor Kuhlenbäumer, Andrew Singleton, Claudia M Testa, Mark Hallett, Rodger Elble, Günther Deuschl
Essential tremor (ET) is a common cause of significant disability, but its etiologies and pathogenesis are poorly understood. Research has been hampered by the variable definition of ET and by non-standardized research approaches. The National Institute of Neurological Disorders and Stroke (USA) invited experts in ET and related fields to discuss current knowledge, controversies, and gaps in our understanding of ET and to develop recommendations for future research. Discussion focused on phenomenology and phenotypes, therapies and clinical trials, pathophysiology, pathology, and genetics...
October 4, 2016: Parkinsonism & related Disorders
Liang Guo, Liqiang Zheng, Xiaofan Guo, Ye Chang, Xinghu Zhou, Yingxian Sun
BACKGROUND: Complement component 5 (C5) has been described to play an important role in the development and progression of atherosclerosis and cardiovascular disease. Our aim was to determine whether genetic variation of C5 was associated with ischemic stroke (IS) in northeast Chinese population. METHODS: We used a case-control study involving 386 IS patients and 386 non-IS controls from a rural population and determined the genotypes of five polymorphisms (rs12237774, rs17611, rs4837805, rs7026551, and rs1017119) of C5 gene by Snapshot single-nucleotide polymorphism genotyping assays to assess any links with IS...
October 21, 2016: Genetic Testing and Molecular Biomarkers
Toshiyuki Miyata, Keiko Maruyama, Fumiaki Banno, Reiko Neki
In recent years, genetic analyses of congenital deficiencies of three anticoagulant proteins, antithrombin, protein C (PC) and protein S (PS), in East Asian patients with venous thromboembolism (VTE) have greatly increased. The PS-K196E mutation is often identified in the Japanese population with an allelic frequency of 0.86 %, and a total of approximately 10,000 Japanese are estimated to be homozygotes. The heterozygotes show PS anticoagulant activities ranging from 40 to 110 %, and 16 % lower mean anticoagulant activity than that in wild-type individuals...
2016: Thrombosis Journal
Wei He, Peng Huang, Dinghua Liu, Lingling Zhong, Rongbin Yu, Jianan Li
Background: Base excision repair (BER) is the primary DNA repair system with the ability to fix base lesions caused by oxidative damage. Genetic variants influencing the BER pathway may affect the susceptibility and the outcomes of ischemic stroke. Here, we examined how single nucleotide polymorphisms (SNPs) associated with BER impact susceptibility and short-term recovery of ischemic stroke. Methods: We selected 320 ischemic stroke patients and 303 controls. Then we genotyped SNPs of NEIL1 rs4462560, NEIL3 rs12645561 and XRCC1 rs25487 in both groups...
October 17, 2016: International Journal of Environmental Research and Public Health
Petra Rust, Cem Ekmekcioglu
Excessive dietary salt (sodium chloride) intake is associated with an increased risk for hypertension, which in turn is especially a major risk factor for stroke and other cardiovascular pathologies, but also kidney diseases. Besides, high salt intake or preference for salty food is discussed to be positive associated with stomach cancer, and according to recent studies probably also obesity risk. On the other hand a reduction of dietary salt intake leads to a considerable reduction in blood pressure, especially in hypertensive patients but to a lesser extent also in normotensives as several meta-analyses of interventional studies have shown...
October 19, 2016: Advances in Experimental Medicine and Biology
H H Caline Koh-Tan, Mohammed Dashti, Ting Wang, Wendy Beattie, John Mcclure, Barbara Young, Anna F Dominiczak, Martin W Mcbride, Delyth Graham
BACKGROUND: We have previously confirmed the importance of rat chromosome 3 (RNO3) genetic loci on blood pressure elevation, pulse pressure (PP) variability and renal pathology during salt challenge in the stroke-prone spontaneously hypertensive (SHRSP) rat. The aims of this study were to generate a panel of RNO3 congenic sub-strains to genetically dissect the implicated loci and identify positional candidate genes by microarray expression profiling and analysis of next-generation sequencing data...
October 17, 2016: Journal of Hypertension
Louise Burrell
The renin-angiotensin system (RAS) plays a major role in the pathogenesis of hypertension, a major risk factor for stroke, coronary events, heart failure and kidney disease. Within the RAS, angiotensin converting enzyme (ACE) converts angiotensin (Ang) I into the vasoconstrictor Ang II, which mediates its effects via the angiotensin type 1 receptor (AT1R). An "alternate" arm of the RAS is now known to exist in which the monocarboxypeptidase ACE2 counterbalances the effects of the classic RAS through degradation of the vasoconstrictor peptide, Ang II, and generation of the vasodilatory peptide, Ang 1-7...
September 2016: Journal of Hypertension
Yoshihiro Kokubo
Hypertension is one of the strongest risk factor for cardiovascular disease. Recently, accumulating evidence also indicates that hypertension has been linked with non-cardiovascular diseases including dementia, cancer, oral health diseases and so on. In general, elderly individuals tend to have multiple diseases as getting older. Preventing of hypertension is also benefit for other diseases.In the Hisayama Study, hypertension increased the risk of vascular dementia, but were not associated with an increased risk of Alzheimer disease, and that subjects with hypertension in midlife and normotension and hypertension in late-life increased risks of incident vascular dementia...
September 2016: Journal of Hypertension
Anna F Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment. The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
Tien Wong
The vasculature in the retina can be viewed directly and non-invasively in vivo, offers a unique perspective of the human microvasculature, and therefore the ability to understand early changes, processes, pathways and consequences of hypertension. In the past 15 years, advances in high resolution digital retinal photography and automated or semi-automated computer image software have been applied to measure and quantify a variety of retinal microvascular parameter, including retinal arteriolar and venular caliber, tortuosity, branching patterns and fractal dimensions...
September 2016: Journal of Hypertension
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
Pradeep Kumar, Shubham Misra, Arun Kumar Yadav, Amit Kumar, Mukesh Sriwastva, Kameshwar Prasad
BACKGROUND: Polymorphisms of -174G/C and -572C/G in the Interleukin-6 (IL-6) promoter gene can affect both transcription and secretion of IL-6 and may be involved in the inflammatory mechanisms in early and delayed phases after intracerebral hemorrhage (ICH). The role of these polymorphisms remains unclear for the pathogenesis of ICH. METHODS: PubMed, EMBASE, MEDLINE and Google Scholar searches were conducted from January 1, 1950 to February 29, 2016 and were supplemented with relevant articles identified in the references...
September 2016: Pulse (Basel, Switzerland)
Omer Akyol, Sumeyya Akyol, Chu-Huang Chen
Endothelial cells (EC) respond to injury by releasing numerous factors, including von Willebrand factor (VWF). High circulating levels of unusually large VWF multimers (UL-VWFM) have strong procoagulant activity and facilitate platelet adhesion and aggregation by interacting with platelets after an acute event superimposed on peripheral arterial disease and coronary artery disease. ADAMTS13-a disintegrin-like metalloproteinase with thrombospondin motif type 1 member 13-regulates a key physiological process of coagulation in the circulation by cleaving VWF multimers into small, inactive fragments...
October 13, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Daniel F Gudbjartsson, Hilma Holm, Patrick Sulem, Gisli Masson, Asmundur Oddsson, Olafur Th Magnusson, Jona Saemundsdottir, Hafdis Th Helgadottir, Hannes Helgason, Hrefna Johannsdottir, Solveig Gretarsdottir, Sigurjon A Gudjonsson, Inger Njølstad, Maja-Lisa Løchen, Larry Baum, Ronald C W Ma, Gunnlaugur Sigfusson, Augustine Kong, Guðmundur Thorgeirsson, Jon Th Sverrisson, Unnur Thorsteinsdottir, Kari Stefansson, David O Arnar
AIMS: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in man, causing substantial morbidity and mortality with a major worldwide public health impact. It is increasingly recognized as a highly heritable condition. This study aimed to determine genetic risk factors for early-onset AF. METHODS AND RESULTS: We sequenced the whole genomes of 8453 Icelanders and imputed genotypes of the 25.5 million sequence variants we discovered into 1799 Icelanders with early-onset AF (diagnosed before 60 years of age) and 337 453 controls...
October 14, 2016: European Heart Journal
Torsten Konrad, Sebastian Sonnenschein, Frank Patrick Schmidt, Hanke Mollnau, Karsten Bock, Blanca Quesada Ocete, Thomas Münzel, Cathrin Theis, Thomas Rostock
AIMS: Different cardiac arrhythmias have been suggested to be associated with Danon disease, e.g. Wolff-Parkinson-White syndrome. However, a systematic electrophysiological investigation of patients with Danon disease is lacking thus far. METHODS AND RESULTS: Seven patients with Danon disease (4 males, 35.8 ± 10.8 years; 3 females, 51.3 ± 19.9 years) from 3 different families were studied. In all patients, the presence of Danon disease was confirmed by western blot of biopsy material or genetic testing...
October 14, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
K V Firsov, A S Kotov
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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