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Association of apolipoprotein E genotypes with lipid levels and coronary risk.
There are approximately linear relationships of apoE genotypes with both LDL-C levels and coronary risk, and the relationship with high-density lipoprotein cholesterol was inverse and shallow and that with triglycerides was nonlinear and largely confined to the epsilon2/epsilon2 genotype.
Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk.
Three CETP genotypes that are associated with moderate inhibition of CETP activity (and, therefore, modestly higher HDL-C levels) show weakly inverse associations with coronary risk.
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
Because GATA2 is the only common mutated gene in 4 unrelated persons, it is highly probable to be the cause of dendritic cell, monocyte, B, and natural killer lymphoid deficiency and constitutes a new genetic form of heritable immunodeficiency and leukemic transformation.
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
- Rachel Soemedi, I. Wilson, +28 authors B. Keavney
- Biology, MedicineAmerican journal of human genetics
- 7 September 2012
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, the contribution of global CNV burden to the risk of sporadic…
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression
- M. Cunnington, M. S. Santibáñez Koref, B. Mayosi, J. Burn, B. Keavney
- Biology, MedicinePLoS genetics
- 1 April 2010
SNPs had an inverse effect on ANRIL and CD KN2B expression, supporting a role of antisense transcription in CDKN2B regulation and suggesting that modulation of ANRil expression mediates susceptibility to several important human diseases.
Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein.
Baseline plasma CRP is a significantly heritable cardiovascular risk factor and levels are associated with genotype at the -174G/C polymorphism of the IL-6 gene, suggesting it arises from chromosomal proximity or identity of the typed polymorphism with a genetic variant influencing baseline CRP levels.
Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66 155 cases and 91 307 controls
Meta-analyses on seven haemostatic genetic variants involved in the development of venous thrombosis found they might each be moderately associated with the risk of coronary disease, and explored potential sources of heterogeneity.
Four paraoxonase gene polymorphisms in 11 212 cases of coronary heart disease and 12 786 controls: meta-analysis of 43 studies
The findings reinforce the need for much larger and more rigorous investigations of the genetic determinants of complex diseases than is now customary, as well as for regularly updated systematic appraisals of such studies to help improve interpretation and prioritise hypotheses.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Association analyses based on false discovery rate implicate new loci for coronary artery disease
This approach identified 13 new loci at genome-wide significance, 12 of which were on the previous list of loci meeting the 5% FDR threshold, thus providing strong support that the remaining loci identified by FDR represent genuine signals.