Mendelian randomization as an approach to assess causality using observational data

P Sekula, M Fabiola Del Greco, C Pattaro… - Journal of the …, 2016 - journals.lww.com
Mendelian randomization refers to an analytic approach to assess the causality of an
observed association between a modifiable exposure or risk factor and a clinically relevant …

Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization …

BA Ference, W Yoo, I Alesh, N Mahajan… - Journal of the American …, 2012 - jacc.org
Objectives: The purpose of this study was to estimate the effect of long-term exposure to
lower plasma low-density lipoprotein cholesterol (LDL-C) on the risk of coronary heart …

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power

EG Atkinson, AX Maihofer, M Kanai, AR Martin… - Nature …, 2021 - nature.com
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

C Giambartolomei, D Vukcevic, EE Schadt… - PLoS …, 2014 - journals.plos.org
Genetic association studies, in particular the genome-wide association study (GWAS)
design, have provided a wealth of novel insights into the aetiology of a wide range of human …

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

PJ Talmud, S Shah, R Whittall, M Futema, P Howard… - The Lancet, 2013 - thelancet.com
Background Familial hypercholesterolaemia is a common autosomal-dominant disorder
caused by mutations in three known genes. DNA-based cascade testing is recommended by …

PCSK9 is a critical regulator of the innate immune response and septic shock outcome

KR Walley, KR Thain, JA Russell, MP Reilly… - Science translational …, 2014 - science.org
A decrease in the activity of proprotein convertase subtilisin/kexin type 9 (PCSK9) increases
the amount of low-density lipoprotein (LDL) receptors on liver cells and, therefore, LDL …

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

FW Asselbergs, Y Guo, EPA Van Iperen… - The American Journal of …, 2012 - cell.com
Genome-wide association studies (GWASs) have identified many SNPs underlying
variations in plasma-lipid levels. We explore whether additional loci associated with plasma …

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

R Saxena, CC Elbers, Y Guo, I Peter, TR Gaunt… - The American Journal of …, 2012 - cell.com
To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale
meta-analyses by using a custom∼ 50,000 SNP genotyping array (the ITMAT-Broad-CARe …

Genetic determinants of plasma triglycerides

CT Johansen, S Kathiresan, RA Hegele - Journal of lipid research, 2011 - ASBMB
Plasma triglyceride (TG) concentration is reemerging as an important cardiovascular
disease risk factor. More complete understanding of the genes and variants that modulate …

Update on the molecular biology of dyslipidemias

I Ramasamy - Clinica chimica acta, 2016 - Elsevier
Dyslipidemia is a commonly encountered clinical condition and is an important determinant
of cardiovascular disease. Although secondary factors play a role in clinical expression …