scholarly journals Use of Systems Biology Approaches to Analysis of Genome-Wide Association Studies of Myocardial Infarction and Blood Cholesterol in the Nurses' Health Study and Health Professionals’ Follow-Up Study

PLoS ONE ◽  
2013 ◽  
Vol 8 (12) ◽  
pp. e85369 ◽  
Author(s):  
Dermot Reilly ◽  
Ke Hao ◽  
Majken K. Jensen ◽  
Cynthia J. Girman ◽  
Eric B. Rimm
Keyword(s):  
Myocardial Infarction ◽  
Health Professionals ◽  
Association Studies ◽  
Genome Wide Association ◽  
Blood Cholesterol ◽  
Health Study ◽  
Genome Wide Association Studies ◽  
Follow Up Study ◽  
Genome Wide

scholarly journals Genome-wide association studies of cardiac electrical phenotypes

2020 ◽  
Vol 116 (9) ◽  
pp. 1620-1634
Author(s):  
Charlotte Glinge ◽  
Najim Lahrouchi ◽  
Reza Jabbari ◽  
Jacob Tfelt-Hansen ◽  
Connie R Bezzina
Keyword(s):  
Genetic Basis ◽  
Association Studies ◽  
Individual Variability ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Genome Wide ◽  
Challenges And Opportunities ◽  
Electrocardiographic Parameters

Abstract The genetic basis of cardiac electrical phenotypes has in the last 25 years been the subject of intense investigation. While in the first years, such efforts were dominated by the study of familial arrhythmia syndromes, in recent years, large consortia of investigators have successfully pursued genome-wide association studies (GWAS) for the identification of single-nucleotide polymorphisms that govern inter-individual variability in electrocardiographic parameters in the general population. We here provide a review of GWAS conducted on cardiac electrical phenotypes in the last 14 years and discuss the implications of these discoveries for our understanding of the genetic basis of disease susceptibility and variability in disease severity. Furthermore, we review functional follow-up studies that have been conducted on GWAS loci associated with cardiac electrical phenotypes and highlight the challenges and opportunities offered by such studies.

Efficient estimation of disease odds ratios for follow-up genetic association studies

2017 ◽  
Vol 28 (7) ◽  
pp. 1927-1941
Author(s):  
Jiyuan Hu ◽  
Wei Zhang ◽  
Xinmin Li ◽  
Dongdong Pan ◽  
Qizhai Li
Keyword(s):  
Genetic Association ◽  
Association Studies ◽  
Genetic Association Studies ◽  
Efficient Estimation ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Odds Ratios ◽  
Genome Wide ◽  
Follow Up Studies

In the past decade, genome-wide association studies have identified thousands of susceptible variants associated with complex human diseases and traits. Conducting follow-up genetic association studies has become a standard approach to validate the findings of genome-wide association studies. One problem of high interest in genetic association studies is to accurately estimate the strength of the association, which is often quantified by odds ratios in case-control studies. However, estimating the association directly by follow-up studies is inefficient since this approach ignores information from the genome-wide association studies. In this article, an estimator called GFcom, which integrates information from genome-wide association studies and follow-up studies, is proposed. The estimator includes both the point estimate and corresponding confidence interval. GFcom is more efficient than competing estimators regarding MSE and the length of confidence intervals. The superiority of GFcom is particularly evident when the genome-wide association study suffers from severe selection bias. Comprehensive simulation studies and applications to three real follow-up studies demonstrate the performance of the proposed estimator. An R package, “GFcom”, implementing our method is publicly available at https://github.com/JiyuanHu/GFcom .

scholarly journals Genome-wide association studies and contribution to cardiovascular physiology

2015 ◽  
Vol 47 (9) ◽  
pp. 365-375 ◽  
Author(s):  
Patricia B. Munroe ◽  
Andrew Tinker
Keyword(s):  
Complex Traits ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Cardiovascular Disorders ◽  
Genetic Associations ◽  
Physiological Processes ◽  
Genome Wide ◽  
Personal Interests

The study of family pedigrees with rare monogenic cardiovascular disorders has revealed new molecular players in physiological processes. Genome-wide association studies of complex traits with a heritable component may afford a similar and potentially intellectually richer opportunity. In this review we focus on the interpretation of genetic associations and the issue of causality in relation to known and potentially new physiology. We mainly discuss cardiometabolic traits as it reflects our personal interests, but the issues pertain broadly in many other disciplines. We also describe some of the resources that are now available that may expedite follow up of genetic association signals into observations on causal mechanisms and pathophysiology.

scholarly journals Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

2015 ◽  
Vol 134 (8) ◽  
pp. 823-835 ◽  
Author(s):  
Fan Liu ◽  
Mijke Visser ◽  
David L. Duffy ◽  
Pirro G. Hysi ◽  
Leonie C. Jacobs ◽  
...  
Keyword(s):  
Skin Color ◽  
Association Studies ◽  
Color Variation ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide

scholarly journals A meta-analysis of genome-wide association studies of asthma in Puerto Ricans

2017 ◽  
Vol 49 (5) ◽  
pp. 1601505 ◽  
Author(s):  
Qi Yan ◽  
John Brehm ◽  
Maria Pino-Yanes ◽  
Erick Forno ◽  
Jerome Lin ◽  
...  
Keyword(s):  
Puerto Ricans ◽  
Association Studies ◽  
Meta Analysis ◽  
Linkage Disequilibrium Block ◽  
Genome Wide Association ◽  
Health Study ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
The Usa ◽  
Meta Analyses

Puerto Ricans are disproportionately affected with asthma in the USA. In this study, we aim to identify genetic variants that confer susceptibility to asthma in Puerto Ricans.We conducted a meta-analysis of genome-wide association studies (GWAS) of asthma in Puerto Ricans, including participants from: the Genetics of Asthma in Latino Americans (GALA) I-II, the Hartford–Puerto Rico Study and the Hispanic Community Health Study. Moreover, we examined whether susceptibility loci identified in previous meta-analyses of GWAS are associated with asthma in Puerto Ricans.The only locus to achieve genome-wide significance was chromosome 17q21, as evidenced by our top single nucleotide polymorphism (SNP), rs907092 (OR 0.71, p=1.2×10−12) at IKZF3. Similar to results in non-Puerto Ricans, SNPs in genes in the same linkage disequilibrium block as IKZF3 (e.g. ZPBP2, ORMDL3 and GSDMB) were significantly associated with asthma in Puerto Ricans. With regard to results from a meta-analysis in Europeans, we replicated findings for rs2305480 at GSDMB, but not for SNPs in any other genes. On the other hand, we replicated results from a meta-analysis of North American populations for SNPs at IL1RL1, TSLP and GSDMB but not for IL33.Our findings suggest that common variants on chromosome 17q21 have the greatest effects on asthma in Puerto Ricans.

P4-128: Follow up of Alzheimer's disease with psychosis genome-wide association studies

2012 ◽  
Vol 8 (4S_Part_18) ◽  
pp. P676-P676
Author(s):  
Rebecca Sims ◽  
Paul Hollingworth ◽  
Robert Sweet ◽  
Sebastiaan Engelborghs ◽  
Gianfranco Spalletta ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide
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