Mendelian randomization
… Determinants of statistical power in a mendelian randomization study include the frequency
of the genetic variant(s) used, the effect size of the variant on the risk factor, and study …
of the genetic variant(s) used, the effect size of the variant on the risk factor, and study …
A brief history of human disease genetics
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease. Over …
biomedical traits, particularly those related to the onset and progression of human disease. Over …
Genetics of coronary artery disease: discovery, biology and clinical translation
AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease. …
heritable, recent advances have started to unravel the genetic architecture of the disease. …
[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
[HTML][HTML] Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
…, L Peltonen, SM Schwartz, D Altshuler, S Kathiresan - The Lancet, 2012 - thelancet.com
Background High plasma HDL cholesterol is associated with reduced risk of myocardial
infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are …
infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are …
[HTML][HTML] Age-related clonal hematopoiesis associated with adverse outcomes
…, BF Banahan, S Gabriel, S Kathiresan… - … England Journal of …, 2014 - Mass Medical Soc
Background The incidence of hematologic cancers increases with age. These cancers are
associated with recurrent somatic mutations in specific genes. We hypothesized that such …
associated with recurrent somatic mutations in specific genes. We hypothesized that such …
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
…, A Stančáková, LJ Raffel, J Yao, S Kathiresan… - Nature, 2011 - nature.com
Blood pressure is a heritable trait 1 influenced by several biological pathways and responsive
to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm …
to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm …
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
H Schunkert, IR König, S Kathiresan, MP Reilly… - Nature …, 2011 - nature.com
We performed a meta-analysis of 14 genome-wide association studies of coronary artery
disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of …
disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of …
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight
into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (…
into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (…
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
…, ES Lander, SA Lubitz, PT Ellinor, S Kathiresan - Nature …, 2018 - nature.com
A key public health need is to identify individuals at high risk for a given disease to enable
enhanced screening or preventive therapies. Because most common diseases have a genetic …
enhanced screening or preventive therapies. Because most common diseases have a genetic …