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Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose.
VKORC1 haplotypes can be used to stratify patients into low-, intermediate-, and high-dose warfarin groups and may explain differences in dose requirements among patients of different ancestries.
An epigenetic biomarker of aging for lifespan and healthspan
A new epigenetic biomarker of aging, DNAm PhenoAge, is developed that strongly outperforms previous measures in regards to predictions for a variety of aging outcomes, including all-cause mortality, cancers, healthspan, physical functioning, and Alzheimer’s disease.
DNA methylation GrimAge strongly predicts lifespan and healthspan
Using large scale validation data from thousands of individuals, it is demonstrated that DNAm GrimAge stands out among existing epigenetic clocks in terms of its predictive ability for time-to-death, and a novel measure of epigenetic age acceleration, AgeAccelGrim.
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
Evidence is reported for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission, which provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures.
Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
- Jacy R. Crosby, G. Peloso, S. Kathiresan
- Medicine, BiologyThe New England journal of medicine
- 2 July 2014
Rare mutations that disrupt AP OC3 function were associated with lower levels of plasma triglycerides and APOC3, and carriers of these mutations were found to have a reduced risk of coronary heart disease.
Mendelian randomization of blood lipids for coronary heart disease
The genetic findings support a causal effect of triglycerides on CHD risk, but a causal role for HDL-C, though possible, remains less certain.
The landscape of recombination in African Americans
This work builds a genetic map measuring the probability of crossing over at each position in the genome, based on about 2.1 million crossovers in 30,000 unrelated African Americans, and identifies about 2,500 recombination hotspots that are active in people of West African ancestry but nearly inactive in Europeans.
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
A multiancestry genome-wide-association meta-analysis and discovered 22 new stroke risk loci, indicating mechanisms not previously implicated in stroke pathophysiology, with prioritization of risk variants and genes accomplished through bioinformatics analyses using extensive functional datasets.
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.