A genome-wide association study identifies protein quantitative trait loci (pQTLs)

D Melzer, JRB Perry, D Hernandez, AM Corsi… - PLoS …, 2008 - journals.plos.org
There is considerable evidence that human genetic variation influences gene expression.
Genome-wide studies have revealed that mRNA levels are associated with genetic variation …

Comparative analysis of proteome and transcriptome variation in mouse

A Ghazalpour, B Bennett, VA Petyuk, L Orozco… - PLoS …, 2011 - journals.plos.org
The relationships between the levels of transcripts and the levels of the proteins they encode
have not been examined comprehensively in mammals, although previous work in plants …

Identification of cis-regulatory variation influencing protein abundance levels in human plasma

A Lourdusamy, S Newhouse, K Lunnon… - Human molecular …, 2012 - academic.oup.com
Proteins are central to almost all cellular processes, and dysregulation of expression and
function is associated with a range of disorders. A number of studies in human have recently …

Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression

J Fu, MGM Wolfs, P Deelen, HJ Westra… - PLoS …, 2012 - journals.plos.org
It is known that genetic variants can affect gene expression, but it is not yet completely clear
through what mechanisms genetic variation mediate this expression. We therefore …

Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

J Zhang, D Dutta, A Köttgen, A Tin, P Schlosser… - Nature Genetics, 2022 - nature.com
Improved understanding of genetic regulation of the proteome can facilitate identification of
the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from …

Joint analysis of functional genomic data and genome-wide association studies of 18 human traits

JK Pickrell - The American Journal of Human Genetics, 2014 - cell.com
Annotations of gene structures and regulatory elements can inform genome-wide
association studies (GWASs). However, choosing the relevant annotations for interpreting …

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

DL Nicolae, E Gamazon, W Zhang, S Duan… - PLoS …, 2010 - journals.plos.org
Although genome-wide association studies (GWAS) of complex traits have yielded more
reproducible associations than had been discovered using any other approach, the loci …

Genome-wide genotype-serum proteome mapping provides insights into the cross-ancestry differences in cardiometabolic disease susceptibility

F Xu, EYW Yu, X Cai, L Yue, L Jing, X Liang… - Nature …, 2023 - nature.com
Identification of protein quantitative trait loci (pQTL) helps understand the underlying
mechanisms of diseases and discover promising targets for pharmacological intervention …

Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease

C Yao, G Chen, C Song, J Keefe, M Mendelson… - Nature …, 2018 - nature.com
Identifying genetic variants associated with circulating protein concentrations (protein
quantitative trait loci; pQTLs) and integrating them with variants from genome-wide …

Heritability and tissue specificity of expression quantitative trait loci

E Petretto, J Mangion, NJ Dickens, SA Cook… - PLoS …, 2006 - journals.plos.org
Variation in gene expression is heritable and has been mapped to the genome in humans
and model organisms as expression quantitative trait loci (eQTLs). We applied integrated …