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https://www.readbyqxmd.com/read/28431990/a-common-polymorphism-decreases-lrp1-mrna-stability-and-is-associated-with-increased-plasma-factor-viii-levels
#1
Jiann-Der Lee, Kuang-Ming Hsiao, Pey-Jium Chang, Chih-Cheng Chen, Ya-Wen Kuo, Yen-Chu Huang, Huan-Lin Hsu, Ya-Hui Lin, Chih-Ying Wu, Ying-Chih Huang, Meng Lee, Chia-Yu Hsu, Yi-Ting Pan, Chih-Yu Kuo, Chun-Hsien Lin
The low-density lipoprotein receptor-related protein 1 (LRP1) gene is associated with increased levels of plasma factor VIII (FVIII). We aimed to explore eight functional genetic LRP1 variants for their potential roles in regulating FVIII levels and acute ischemic stroke (AIS). This genetic association study enrolled 192 patients with AIS and 134 controls. There were no significant differences in the genetic frequency of the eight functional single-nucleotide polymorphisms (SNPs) between the control and AIS groups...
April 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28431986/ninj2-a-novel-regulator-of-endothelial-inflammation-and-activation
#2
Jingjing Wang, Jingjing Fa, Pengyun Wang, Xinzhen Jia, Huixin Peng, Jing Chen, Yifan Wang, Chenhui Wang, Qiuyun Chen, Xin Tu, Qing K Wang, Chengqi Xu
Previous genetic studies suggested that variants in NINJ2 (encode ninjurin2) confer risk to ischemic stroke or large artery atherosclerotic stroke. However, the underlying mechanisms of NINJ2 in ischemic stroke or atherosclerosis are still unknown. In this study, we hypothesized that NINJ2 may play a role in endothelial inflammation and activation, and regulate the process of atherosclerosis. Here, we demonstrated that NINJ2 can regulate the expression of a panel of genes that are associated with inflammation and atherosclerosis (e...
April 18, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28430632/association-analysis-of-apo-gene-polymorphisms-with-ischemic-stroke-risk-a-case-control-study-in-a-chinese-han-population
#3
Rongjun Xiao, Shuaiqi Sun, Jiayi Zhang, Yongri Ouyang, Ning Zhang, Min Yang, Tianbo Jin, Ying Xia
This study aimed to assess the association of APO gene polymorphisms and ischemic stroke risk in a Chinese Han population. In this case-control study, we geno-typed 14 single nucleotide polymorphisms (SNPs) in 3 APO genes in 488 cases and 503 controls using Sequenom Mass-ARRAY technology and evaluated their association with ischemic stroke using the χ2 and genetic model analysis. In the allelic model analysis, we determined three SNPs were significantly associated with ischemic stroke: rs693 with a p value of 0...
February 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430550/round-table-on-malignant-hyperthermia-in-physically-active-populations-meeting-proceedings
#4
Yuri Hosokawa, Douglas J Casa, Henry Rosenberg, John F Capacchione, Emmanuel Sagui, Sheila Riazi, Luke N Belval, Patricia A Deuster, John F Jardine, Stavros A Kavouras, Elaine C Lee, Kevin C Miller, Sheila M Muldoon, Francis G O'Connor, Scott R Sailor, Nyamkhishig Sambuughin, Rebecca L Stearns, William M Adams, Robert A Huggins, Lesley W Vandermark
CONTEXT:   Recent case reports on malignant hyperthermia (MH)-like syndrome in physically active populations indicate potential associations among MH, exertional heat stroke (EHS), and exertional rhabdomyolysis (ER). However, an expert consensus for clinicians working with these populations is lacking. OBJECTIVE:   To provide current expert consensus on the (1) definition of MH; (2) history, etiology, and pathophysiology of MH; (3) epidemiology of MH; (4) association of MH with EHS and ER; (5) identification of an MH-like syndrome; (6) recommendations for acute management of an MH-like syndrome; (7) special considerations for physically active populations; and (8) future directions for research...
April 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28428978/20th-workshop-of-the-international-stroke-genetics-consortium-november-3-4-2016-milan-italy-2016-036-isgc-research-priorities
#5
Daniel Woo, Stephanie Debette, Christopher Anderson
OBJECTIVE: To develop a research priority list for the International Stroke Genetics Consortium (ISGC). BACKGROUND: Previously, stroke progress review groups and other activities provided an opportunity for members within the field to develop priorities for research. These filtered into larger categories which then published the top research priorities of their given field. However, these review groups are no longer forming and thus there has been no clear direction on what the research priorities and needs for stroke genetics research...
March 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28428977/19th-workshop-of-the-international-stroke-genetics-consortium-april-28-29-2016-boston-massachusetts-usa-2016-001-mri-defined-cerebrovascular-genomics-the-charge-consortium
#6
S Debette, Y Saba, D Vojinovic, X Jian, H Adams, G Chauhan, M Sargurupremraj, S Kaffashian, J Ding, J C Bis, P Nyquist, K Mather, C Van Duijn, L J Launer, M A Ikram, H Schmidt, W T Longstreth, M Fornage, S Seshadri
The CHARGE consortium is an investigator-initiated collaboration to facilitate meta-analyses of genome-wide association studies (GWAS) and genomic analyses based on next generation sequencing (NGS), among multiple large and well-phenotyped population-based cohort studies around the world (http://www.chargeconsortium.com). Within the neuro-CHARGE working group, we are presenting an update of ongoing genomic studies on MRI-markers of cerebrovascular disease. Large population-based studies have shown that the burden of cerebrovascular disease extends far beyond that of clinical stroke...
March 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28426137/hydroxyurea-hydroxycarbamide-for-sickle-cell-disease
#7
REVIEW
Sarah J Nevitt, Ashley P Jones, Jo Howard
BACKGROUND: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting...
April 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28421636/leveraging-cell-type-specific-regulatory-regions-to-detect-snps-associated-with-tissue-factor-pathway-inhibitor-plasma-levels
#8
Jessica Dennis, Alejandra Medina-Rivera, Vinh Truong, Lina Antounians, Nora Zwingerman, Giovana Carrasco, Lisa Strug, Phil Wells, David-Alexandre Trégouët, Pierre-Emmanuel Morange, Michael D Wilson, France Gagnon
Tissue factor pathway inhibitor (TFPI) regulates the formation of intravascular blood clots, which manifest clinically as ischemic heart disease, ischemic stroke, and venous thromboembolism (VTE). TFPI plasma levels are heritable, but the genetics underlying TFPI plasma level variability are poorly understood. Herein we report the first genome-wide association scan (GWAS) of TFPI plasma levels, conducted in 251 individuals from five extended French-Canadian Families ascertained on VTE. To improve discovery, we also applied a hypothesis-driven (HD) GWAS approach that prioritized single nucleotide polymorphisms (SNPs) in (1) hemostasis pathway genes, and (2) vascular endothelial cell (EC) regulatory regions, which are among the highest expressers of TFPI...
April 18, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28416822/identification-of-six-new-genetic-loci-associated-with-atrial-fibrillation-in-the-japanese-population
#9
Siew-Kee Low, Atsushi Takahashi, Yusuke Ebana, Kouichi Ozaki, Ingrid E Christophersen, Patrick T Ellinor, Soichi Ogishima, Masayuki Yamamoto, Mamoru Satoh, Makoto Sasaki, Taiki Yamaji, Motoki Iwasaki, Shoichiro Tsugane, Keitaro Tanaka, Mariko Naito, Kenji Wakai, Hideo Tanaka, Tetsushi Furukawa, Michiaki Kubo, Kaoru Ito, Yoichiro Kamatani, Toshihiro Tanaka
Atrial fibrillation is the most common cardiac arrhythmia and leads to stroke. To investigate genetic loci associated with atrial fibrillation in the Japanese population, we performed a genome-wide association study (GWAS) that included 8,180 atrial fibrillation cases and 28,612 controls with follow-up in an additional 3,120 cases and 125,064 controls. We replicated previously reported loci and identified six new loci, near the KCND3, PPFIA4, SLC1A4-CEP68, HAND2, NEBL and SH3PXD2A genes. Five of the six new loci were specifically associated with atrial fibrillation in the Japanese population after comparing our data to those from individuals of European ancestry, suggesting that there might be different genetic factors affecting susceptibility across ancestry groups...
April 17, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28416818/large-scale-analyses-of-common-and-rare-variants-identify-12-new-loci-associated-with-atrial-fibrillation
#10
(no author information available yet)
Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the genetic basis of atrial fibrillation, we performed large-scale, trans-ancestry meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 17,931 individuals with atrial fibrillation and 115,142 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,346 cases and 132,086 referents...
April 17, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28415790/hyperglycemia-via-activation-of-thromboxane-a2-receptor-impairs-the-integrity-and-function-of-blood-brain-barrier-in-microvascular-endothelial-cells
#11
Zhihong Zhao, Jue Hu, Xiaoping Gao, Hui Liang, Haiya Yu, Suosi Liu, Zhan Liu
Diabetes is one of high risk factors for cardio- and cerebra-vascular diseases, including stroke, atherosclerosis and hypertension. This study was conducted to elucidate whether and how thromboxane receptor (TPr) activation contributes to blood-brain barrier (BBB) dysfunction in diabetes. Human brain microvascular endothelial cells (HBMECs) were cultured. The levels of phosphorylated endothelial nitric oxide synthase (eNOS) at Ser1177 (p-eNOS) and Akt at Ser473 (p-Akt) were assayed by western blot. Exposure of HBMECs to either high glucose (HG) or thromboxane A2 (TxA2) mimetic U46619, significantly reduced p-eNOS and p-Akt...
March 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414812/deficiency-of-superoxide-dismutase-promotes-cerebral-vascular-hypertrophy-and-vascular-dysfunction-in-hyperhomocysteinemia
#12
Sanjana Dayal, Gary L Baumbach, Erland Arning, Teodoro Bottiglieri, Frank M Faraci, Steven R Lentz
There is an emerging consensus that hyperhomocysteinemia is an independent risk factor for cerebral vascular disease and that homocysteine-lowering therapy protects from ischemic stroke. However, the mechanisms by which hyperhomocysteinemia produces abnormalities of cerebral vascular structure and function remain largely undefined. Our objective in this study was to define the mechanistic role of superoxide in hyperhomocysteinemia-induced cerebral vascular dysfunction and hypertrophy. Unlike previous studies, our experimental design included a genetic approach to alter superoxide levels by using superoxide dismutase 1 (SOD1)-deficient mice fed a high methionine/low folate diet to produce hyperhomocysteinemia...
2017: PloS One
https://www.readbyqxmd.com/read/28413964/sex-genetic-interaction-in-the-risk-for-cerebrovascular-disease
#13
Donatella Pastore, Francesca Pacifici, Barbara Capuani, Raffaele Palmirotta, Chuanhui Dong, Andrea Coppola, Pasquale Abete, Mario Roselli, Paolo Sbraccia, Fiorella Guadagni, Davide Lauro, Tatjana Rundek, David Della-Morte
Cerebrovascular disease (CeVD) is one of the major cause of death and a leading cause of disability worldwide. CeVD is a complex and multifactorial disease caused by the interaction of environment and genetic factors. Women have lower CeVD incidence than men until an advanced age, when the incidence of CeVD rises dramatically in women. Therefore, sex has been validated as an important risk factor in the etiology of CeVD, especially ischemic stroke. Although the importance of sex steroids have been heavily studied in the mechanism of neuronal injury, the experimental and clinical data suggest that hormones do not fully account for male versus female CeVD patterns...
April 17, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28412319/genetic-and-non-genetic-factors-affecting-the-quality-of-anticoagulation-control-and-vascular-events-in-atrial-fibrillation
#14
Yun Kyung Park, Mi Ji Lee, Jae Ha Kim, Jin Soo Lee, Rae Woong Park, Gyeong-Moon Kim, Chin-Sang Chung, Kwang Ho Lee, June Soo Kim, Soo-Youn Lee, Oh Young Bang
BACKGROUND: Warfarin has a narrow therapeutic window. We hypothesized that genetic factors related to warfarin metabolism (CYP2C9) and activity (VKORC1) would show stronger associations than modifiable factors with the quality of anticoagulation control and risks for thromboembolism and hemorrhage. METHODS: In this retrospective cohort analysis, clinical and genetic data were collected from 380 patients with atrial fibrillation (AF) who were followed for an average observation period of 4 years...
April 12, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28411331/glutaric-acidemia-type-1-a-case-of-infantile-stroke
#15
Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş
BACKGROUND: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms. CASE REPORT: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI...
April 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28411264/grecos-project-genotyping-recurrence-risk-of-stroke-the-use-of-genetics-to-predict-the-vascular-recurrence-after-stroke
#16
Israel Fernández-Cadenas, Maite Mendióroz, Dolors Giralt, Cristina Nafria, Elena Garcia, Caty Carrera, Cristina Gallego-Fabrega, Sophie Domingues-Montanari, Pilar Delgado, Marc Ribó, Mar Castellanos, Sergi Martínez, Marimar Freijo, Jordi Jiménez-Conde, Marta Rubiera, José Alvarez-Sabín, Carlos A Molina, Maria Angels Font, Marta Grau Olivares, Ernest Palomeras, Natalia Perez de la Ossa, Maite Martinez-Zabaleta, Jaime Masjuan, Francisco Moniche, David Canovas, Carlos Piñana, Francisco Purroy, Dolores Cocho, Inma Navas, Carlos Tejero, Nuria Aymerich, Natalia Cullell, Elena Muiño, Joaquín Serena, Francisco Rubio, Antoni Davalos, Jaume Roquer, Juan Francisco Arenillas, Joan Martí-Fábregas, Keith Keene, Wei-Min Chen, Bradford Worrall, Michele Sale, Adrià Arboix, Jerzy Krupinski, Joan Montaner
BACKGROUND AND PURPOSE: Vascular recurrence occurs in 11% of patients during the first year after ischemic stroke (IS) or transient ischemic attack. Clinical scores do not predict the whole vascular recurrence risk; therefore, we aimed to find genetic variants associated with recurrence that might improve the clinical predictive models in IS. METHODS: We analyzed 256 polymorphisms from 115 candidate genes in 3 patient cohorts comprising 4482 IS or transient ischemic attack patients...
April 14, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28409162/synergistic-effect-of-the-mthfr-c677t-and-ephx2-g860a-polymorphism-on-the-increased-risk-of-ischemic-stroke-in-chinese-type-2-diabetic-patients
#17
Liang Ma, Yongwei Jiang, Xiaomu Kong, Meihua Yan, Tingting Zhao, Hailing Zhao, Qian Liu, Haojun Zhang, Yongtong Cao, Ping Li
The aim of this study was to investigate the relationship between the combined effect of MTHFR C677T (rs1801133) and EPHX2 G860A (rs751141) polymorphism and ischemic stroke in Chinese T2DM patients. This case-control study included a total of 626 Chinese T2DM patients (236 T2DM patients with ischemic stroke and 390 T2DM patients without ischemic stroke). The rs1801133 and rs751141 were genotyped using real-time polymerase chain reaction. Statistical analysis was performed with SPSS 17.0. Results showed that the combined effect of MTHFR TT and EPHX2 GG or GA + AA genotype has a higher risk of ischemic stroke compared with the control group (combined effect of MTHFR CC and EPHX2 GA + AA genotypes; OR = 3...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28408707/admixture-mapping-of-subclinical-atherosclerosis-and-subsequent-clinical-events-among-african-americans-in-2-large-cohort-studies
#18
Aditi Shendre, Howard Wiener, Marguerite R Irvin, Degui Zhi, Nita A Limdi, Edgar T Overton, Christina L Wassel, Jasmin Divers, Jerome I Rotter, Wendy S Post, Sadeep Shrestha
BACKGROUND: Local ancestry may contribute to the disproportionate burden of subclinical and clinical cardiovascular disease among admixed African Americans compared with other populations, suggesting a rationale for admixture mapping. METHODS AND RESULTS: We estimated local European ancestry (LEA) using Local Ancestry inference in adMixed Populations using Linkage Disequilibrium method (LAMP-LD) and evaluated the association with common carotid artery intima-media thickness (cCIMT) using multivariable linear regression analysis among 1554 African Americans from MESA (Multi-Ethnic Study of Atherosclerosis)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28408189/genetic-effects-on-the-correlation-structure-of%C3%A2-cvd-risk-factors-exome-wide-data-from-a-ghanaian-population
#19
REVIEW
Nuri Kodaman, Rafal S Sobota, Folkert W Asselbergs, Matthew T Oetjens, Jason H Moore, Nancy J Brown, Melinda C Aldrich, Scott M Williams
Plasma concentration of plasminogen activator inhibitor-1 (PAI-1) is highly correlated with several cardiovascular disease (CVD) risk factors. It also plays a direct role in CVD, including myocardial infarction and stroke, by impeding the dissolution of thrombi in the blood. Insofar as PAI-1 links CVD's risk factors to its endpoints, genetic variants modulating the relationship between PAI-1 and risk factors may be of particular clinical and biological interest. The high heritability of PAI-1, which has not been explained by genetic association studies, may also, in large part, be due to this relationship with CVD risk factors...
April 10, 2017: Global Heart
https://www.readbyqxmd.com/read/28406845/heterogeneity-in-14-year-dementia-incidence-between-asian-american-subgroups
#20
Elizabeth R Mayeda, M Maria Glymour, Charles P Quesenberry, Rachel A Whitmer
BACKGROUND: Asian Americans are a rapidly growing and diverse population. Prior research on dementia among Asian Americans focused on Japanese Americans or Asian Americans overall, although marked differences in cardiometabolic conditions between subgroups have been documented. MATERIALS AND METHODS: We compared dementia incidence among 4 Asian American subgroups (n=8384 Chinese; n=4478 Japanese; n=6210 Filipino; n=197 South Asian) and whites (n=206,490) who were Kaiser Permanente Northern California members aged 64 years and above with no dementia diagnoses as of January 1, 2000...
April 12, 2017: Alzheimer Disease and Associated Disorders
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