E. Boerwinkle

Publications1,585
h-index169
Citations151,106
Highly Influential Citations4,746
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Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids
TLDR
The results identify several novel loci associated with plasma lipids that are also associated with CAD and provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
TLDR
In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
TLDR
Variation in PNPLA3 contributes to ancestry-related and inter-individual differences in hepatic fat content and susceptibility to NAFLD.
Genetic studies of body mass index yield new insights for obesity biology
TLDR
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals provide strong support for a role of the central nervous system in obesity susceptibility.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
TLDR
18 new loci associated with body mass index are identified, one of which includes a copy number variant near GPRC5B, and genes in other newly associated loci may provide new insights into human body weight regulation.
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.
TLDR
It is indicated that moderate lifelong reduction in the plasma level of LDL cholesterol is associated with a substantial Reduction in the incidence of coronary events, even in populations with a high prevalence of non-lipid-related cardiovascular risk factors.
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
TLDR
The findings suggest that most human variation is rare, not shared between populations, and that rare variants are likely to play a role in human health, and show that large sample sizes will be required to associate rare variants with complex traits.
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
TLDR
It is demonstrated that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.
Genome-wide association study of blood pressure and hypertension
TLDR
A genome-wide association study of systolic (SBP) and diastolic (DBP) blood pressure and hypertension in the CHARGE Consortium identifies 13 SNPs for SBP, 20 for DBP and 10 for hypertension at P < 4 × 10−7.
A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping. I. Basic theory and an analysis of alcohol dehydrogenase activity in Drosophila.
TLDR
A cladogram is produced that partially reconstructs the evolutionary history of the present-day haplotype variability in Drosophila melanogaster by producing a nested analysis of variance that simultaneously detects phenotypic effects, localizes the effects within the cladogram, and identifies haplotypes that are potentially heterogeneous in their Phenotypic associations.
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