Serum Lipids in the GENECARD Study of Coronary Artery Disease Identify Quantitative Trait Loci and Phenotypic Subsets on Chromosomes 3q and 5q

@article{Shah2006SerumLI,
  title={Serum Lipids in the GENECARD Study of Coronary Artery Disease Identify Quantitative Trait Loci and Phenotypic Subsets on Chromosomes 3q and 5q},
  author={S. H. Shah and William E. Kraus and David C Crossman and Christopher B. Granger and Jonathan L. Haines and C J H Jones and Vincent Mooser and L Huang and Carol Haynes and Elaine Dowdy and Gloria Lena Vega and Scott M. Grundy and Jeffery M. Vance and Elizabeth R. Hauser},
  journal={Annals of Human Genetics},
  year={2006},
  volume={70}
}
Coronary artery disease (CAD) and dyslipidemia have strong genetic components. Heterogeneity complicates evaluating genetics of complex diseases such as CAD; incorporating disease‐related phenotypes may help reduce heterogeneity. We hypothesized that incorporating lipoproteins in a study of CAD would increase the power to map genes, narrow linkage peaks, identify phenotypic subsets, and elucidate the contribution of established risk factors to genetic results. 
Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5
TLDR
Four genes with SNPs that showed the strongest and most consistent associations with LDL-C and CAD are identified: EBF1, PPP2R2B, SPOCK1, and PRELID2, which should be further examined in future functional studies as candidate susceptibility loci for cardiovascular disease mediated through LDL-cholesterol pathways.
A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits.
TLDR
A link on chromosome (chr) 3, which harbors the GATA2 gene, to early onset of CAD in two families with heterozygous familial hyperlipidemia is established, suggesting a role for the gene in metabolic-related CAD in the general population.
Pilot Genome wide Linkage Analysis in Asian Indian Families with Coronary Artery Disease
TLDR
Novel loci on chromosome 4,6 and 8 has shown suggestive evidence of linkage to CAD; their role in the etio-pathogenesis of CAD remains to be established.
Estimating the Genetic Variance of Five Lipid-Relevant Genes for Determining the Plasma Lipid Profiles
TLDR
It is identified that the genetic variance for the total cholesterol, HDL-ch cholesterol and LDL-cholesterol, and the LDL-C/HDL-C ratio was significantly influenced by the genetic polymorphisms in 5 candidate genes in the Korean population.
Gene–smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort
TLDR
A pathway-based analysis of the association results using WebGestalt revealed several enriched pathways including the regulation of the actin cytoskeleton pathway as defined by the Kyoto Encyclopedia of Genes and Genomes.
Kalirin: a novel genetic risk factor for ischemic stroke
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SNPs in the KALRN region on 3q13, which includes the Ropporin gene (ROPN1), predispose to ischemic stroke (IS) in a cohort of Portuguese patients and controls were determined.
A treasure trove for lipoprotein biology
TLDR
Three new genome-wide association studies of thousands of individuals now identify seven genes or loci contributing to lipid concentrations and confirm a number of previously reported associations.
High heritability of metabolomic profiles in families burdened with premature cardiovascular disease
TLDR
A novel finding of high heritabilities of metabolites in premature CAD is reported, establishing a possible genetic basis for these profiles and implications for understanding CAD pathophysiology and genetics.
Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene
TLDR
Analysis of related phenotypes identified gene-by-stress interaction effects for waist circumference, body mass index (BMI), fasting glucose, type II diabetes status, and common carotid intimal–medial thickness (CCIMT), supporting a proposed model of gene- by- stress interaction that connects cardiovascular disease (CVD) risk factor endophenotypes such as central obesity and increased blood glucose or diabetes to CVD itself.
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.
TLDR
The data suggest the importance of the KALRN gene and the Rho GTPase-signaling pathway in the pathogenesis of CAD and the peakwide survey found evidence of association in SNPs from multiple genes.
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