scholarly journals A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

2017 ◽  
Author(s):  
Foram N. Ashar ◽  
Rebecca N. Mitchell ◽  
Christine M. Albert ◽  
Christopher Newton-Cheh ◽  
Jennifer A. Brody ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cardiac Arrest ◽  
General Population ◽  
Genetic Architecture ◽  
Genome Wide Association Study ◽  
Comprehensive Evaluation ◽  
Genetic Risk Score ◽  
Sudden Cardiac Arrest ◽  
Adult Mortality ◽  
Genome Wide

ABSTRACTBackgroundSudden cardiac arrest (SCA) accounts for 10% of adult mortality in Western populations. While several risk factors are observationally associated with SCA, the genetic architecture of SCA in the general population remains unknown. Furthermore, understanding which risk factors are causal may help target prevention strategies.MethodsWe carried out a large genome-wide association study (GWAS) for SCA (n=3,939 cases, 25,989 non-cases) to examine common variation genome-wide and in candidate arrhythmia genes. We also exploited Mendelian randomization methods using cross-trait multi-variant genetic risk score associations (GRSA) to assess causal relationships of 18 risk factors with SCA.ResultsNo variants were associated with SCA at genome-wide significance, nor were common variants in candidate arrhythmia genes associated with SCA at nominal significance. Using cross-trait GRSA, we established genetic correlation between SCA and (1) coronary artery disease (CAD) and traditional CAD risk factors (blood pressure, lipids, and diabetes), (2) height and BMI, and (3) electrical instability traits (QT and atrial fibrillation), suggesting etiologic roles for these traits in SCA risk.ConclusionsOur findings show that a comprehensive approach to the genetic architecture of SCA can shed light on the determinants of a complex life-threatening condition with multiple influencing factors in the general population. The results of this genetic analysis, both positive and negative findings, have implications for evaluating the genetic architecture of patients with a family history of SCA, and for efforts to prevent SCA in highrisk populations and the general community.

scholarly journals A comprehensive evaluation of the genetic architecture of sudden cardiac arrest

2018 ◽  
Vol 39 (44) ◽  
pp. 3961-3969 ◽  
Author(s):  
Foram N Ashar ◽  
Rebecca N Mitchell ◽  
Christine M Albert ◽  
Christopher Newton-Cheh ◽  
Jennifer A Brody ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Genetic Architecture ◽  
Comprehensive Evaluation ◽  
Sudden Cardiac Arrest

scholarly journals Prediction of sudden cardiac arrest in the general population: Review of traditional and emerging risk factors

2022 ◽  
Author(s):  
Andrew C.T. Ha ◽  
Barbara S. Doumouras ◽  
Chang (Nancy) Wang ◽  
Joan Tranmer ◽  
Douglas S. Lee
Keyword(s):  
Risk Factors ◽  
Cardiac Arrest ◽  
General Population ◽  
Sudden Cardiac Arrest ◽  
Emerging Risk

scholarly journals Genome-Wide Association Study Identifies GPC5 as a Novel Genetic Locus Protective against Sudden Cardiac Arrest

PLoS ONE ◽  
2010 ◽  
Vol 5 (3) ◽  
pp. e9879 ◽  
Author(s):  
Dan E. Arking ◽  
Kyndaron Reinier ◽  
Wendy Post ◽  
Jonathan Jui ◽  
Gina Hilton ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genetic Locus ◽  
Sudden Cardiac Arrest ◽  
Genome Wide Association ◽  
Genome Wide

scholarly journals Contacts to the healthcare system prior to out-of-hospital cardiac arrests

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
N Zylyftari ◽  
S.G Moller ◽  
M Wissenberg ◽  
F Folke ◽  
C.A Barcella ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
General Population ◽  
Healthcare System ◽  
Early Identification ◽  
Sudden Cardiac Arrest ◽  
Funding Source ◽  
Horizon 2020 ◽  
One Year ◽  
Public Grant ◽  
Hospital Cardiac Arrest

Abstract Background Patients who suffer a sudden out-of-hospital cardiac arrest (OHCA) may be preceded by warning symptoms and healthcare system contact. Though, is currently difficult early identification of sudden cardiac arrest patients. Purpose We aimed to examine contacts with the healthcare system up to two weeks and one year before OHCA. Methods OHCA patients were identified from the Danish Cardiac Arrest Registry (2001–2014). The pattern of healthcare contacts (with either general practitioner (GP) or hospital) within the year prior to OHCA of OHCA patients was compared with that of 9 sex- and age-matched controls from the background general population. Additionally, we evaluated characteristics of OHCA patients according to the type of healthcare contact (GP/hospital/both/no-contact) and the including characteristics of contacts, within two weeks prior their OHCA event. Results Out of 28,955 OHCA patients (median age of 72 (62–81) years and with 67% male) of presumed cardiac cause, 16,735 (57.8%) contacted the healthcare system (GP and hospital) within two weeks prior to OHCA. From one year before OHCA, the weekly percentages of contacts to GP were relatively constant (26%) until within 2 weeks prior to OHCA where they markedly increased (54%). In comparison, 14% of the general population contacted the GP during the same period (Figure). The weekly percentages of contacts with hospitals gradually increased in OHCA patients from 3.5% to 6.5% within 6 months, peaking at the second week (6.8%), prior to OHCA. In comparison, only 2% of the general population had a hospital contact in that period (Figure). Within 2 weeks of OHCA, patients contacted GP mainly by telephone (71.6%). Hospital diagnoses were heterogenous, where ischemic heart disease (8%) and heart failure (4.5%) were the most frequent. Conclusions There is an increase in healthcare contacts prior to “sudden” OHCA and overall, 54% of OHCA-patients had contacted GP within 2 weeks before the event. This could have implications for developing future strategies for early identification of patients prior to their cardiac arrest. Figure 1. The weekly percentages of contacts to GP (red) and hospital (blue) within one year before OHCA comparing the OHCA cases to the age- and sex-matched control population (N cases = 28,955; N controls = 260,595). Funding Acknowledgement Type of funding source: Public grant(s) – EU funding. Main funding source(s): European Union's Horizon 2020

scholarly journals A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Juliette Coignard ◽  
◽  
Michael Lush ◽  
Jonathan Beesley ◽  
Tracy A. O’Mara ◽  
...  
Keyword(s):  
Breast Cancer ◽  
General Population ◽  
Genome Wide Association Study ◽  
Brca2 Mutation ◽  
Risk Scores ◽  
Genetic Modifiers ◽  
Mutation Carriers ◽  
Genotype Frequencies ◽  
Genome Wide ◽  
Brca1 Brca2

AbstractBreast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.

scholarly journals The GGLEAM Study: Understanding Glaucoma in the Ohio Amish

2021 ◽  
Vol 18 (4) ◽  
pp. 1551
Author(s):  
Andrea R. Waksmunski ◽  
Yeunjoo E. Song ◽  
Tyler G. Kinzy ◽  
Reneé A. Laux ◽  
Jane Sewell ◽  
...  
Keyword(s):  
Risk Factors ◽  
General Population ◽  
Genetic Risk ◽  
Genetic Architecture ◽  
Environmental Heterogeneity ◽  
Holmes County ◽  
The World ◽  
Study Participants ◽  
Enrollment Process ◽  
Genealogy Database

Glaucoma leads to millions of cases of visual impairment and blindness around the world. Its susceptibility is shaped by both environmental and genetic risk factors. Although over 120 risk loci have been identified for glaucoma, a large portion of its heritability is still unexplained. Here we describe the foundation of the Genetics of GLaucoma Evaluation in the AMish (GGLEAM) study to investigate the genetic architecture of glaucoma in the Ohio Amish, which exhibits lower genetic and environmental heterogeneity compared to the general population. To date, we have enrolled 81 Amish individuals in our study from Holmes County, Ohio. As a part of our enrollment process, 62 GGLEAM study participants (42 glaucoma-affected and 20 unaffected individuals) received comprehensive eye examinations and glaucoma evaluations. Using the data from the Anabaptist Genealogy Database, we found that 80 of the GGLEAM study participants were related to one another through a large, multigenerational pedigree containing 1586 people. We plan to integrate the health and kinship data obtained for the GGLEAM study to interrogate glaucoma genetics and pathophysiology in this unique population.

scholarly journals Factors Affecting the Occurrence of Out-of-Hospital Sudden Cardiac Arrest

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Izabella Uchmanowicz ◽  
Wiesław Bartkiewicz ◽  
Jarosław Sowizdraniuk ◽  
Joanna Rosińczuk
Keyword(s):  
Risk Factors ◽  
Cardiac Arrest ◽  
Rapid Assessment ◽  
Sudden Cardiac Arrest ◽  
International Classification Of Diseases ◽  
Medical Emergency ◽  
Endocrine Disorders ◽  
Factors Affecting ◽  
Emergency Procedures ◽  
Treatment And Prevention

Objective. This paper aims to discover the risk factors for sudden cardiac arrest (out-of-hospital sudden cardiac arrest (OHSCA)) which significantly affect the decision about prioritizing emergency interventions before dispatching medical emergency teams, risk of deterioration of the patient’s condition at the scene, and emergency procedures.Methods. A retrospective study taking into account the international classification of diseases ICD-10 based on an analysis of medical records of Emergency Medical Service in Wroclaw (Poland).Results. The main risk factor of OHSCA is coexistence of external cause leading to illness or death (ICD Group V-10) as well as the occurrence of diseases from the group of endocrine disorders (group E), in particular diabetes. The increase in the risk of OHSCA incidence is affected by nervous system diseases (group G), especially epilepsy of various etiologies, respiratory diseases (group J), mainly COPD, and bronchial asthma or mental and behavioral disorders (group F), with particular emphasis on the drugs issue. The procedure for receiving calls for Emergency Notification Centre does not take into account clinical risk factors for sudden cardiac arrest (SCA).Conclusion. Having knowledge of OHSCA risk factors can increase the efficiency of rescue operations from rapid assessment and provision of appropriate medical team, through effective performance of medical emergency treatment and prevention of SCA or finally reducing the costs.

scholarly journals Modifiable risk factors associated with sudden cardiac arrest within hemodialysis clinics

2011 ◽  
Vol 79 (2) ◽  
pp. 218-227 ◽  
Author(s):  
Patrick H. Pun ◽  
Ruediger W. Lehrich ◽  
Emily F. Honeycutt ◽  
Charles A. Herzog ◽  
John P. Middleton
Keyword(s):  
Risk Factors ◽  
Cardiac Arrest ◽  
Sudden Cardiac Arrest ◽  
Modifiable Risk Factors ◽  
Factors Associated
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