Where are the disease-associated eQTLs?

BD Umans, A Battle, Y Gilad - Trends in Genetics, 2021 - cell.com
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

The role of sex in the genomics of human complex traits

EA Khramtsova, LK Davis, BE Stranger - Nature Reviews Genetics, 2019 - nature.com
Nearly all human complex traits and disease phenotypes exhibit some degree of sex
differences, including differences in prevalence, age of onset, severity or disease …

A compendium of uniformly processed human gene expression and splicing quantitative trait loci

N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

The impact of sex on gene expression across human tissues

M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …

Phenome-wide Mendelian randomization map** the influence of the plasma proteome on complex diseases

J Zheng, V Haberland, D Baird, V Walker… - Nature …, 2020 - nature.com
The human proteome is a major source of therapeutic targets. Recent genetic association
analyses of the plasma proteome enable systematic evaluation of the causal consequences …

Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response

K Alasoo, J Rodrigues, S Mukhopadhyay, AJ Knights… - Nature …, 2018 - nature.com
Regulatory variants are often context specific, modulating gene expression in a subset of
possible cellular states. Although these genetic effects can play important roles in disease …

Landscape of stimulation-responsive chromatin across diverse human immune cells

D Calderon, MLT Nguyen, A Mezger, A Kathiria… - Nature …, 2019 - nature.com
A hallmark of the immune system is the interplay among specialized cell types transitioning
between resting and stimulated states. The gene regulatory landscape of this dynamic …

A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene

N Magusali, AC Graham, TM Piers, P Panichnantakul… - Brain, 2021 - academic.oup.com
Recently, we reported oligoadenylate synthetase 1 (OAS1) contributed to the risk of
Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia …

Distinctive roles of age, sex, and genetics in sha** transcriptional variation of human immune responses to microbial challenges

B Piasecka, D Duffy, A Urrutia… - Proceedings of the …, 2018 - National Acad Sciences
The contribution of host genetic and nongenetic factors to immunological differences in
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …