[HTML][HTML] The influence of evolutionary history on human health and disease

ML Benton, A Abraham, AL LaBella, P Abbot… - Nature Reviews …, 2021 - nature.com
Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …

Human immune diversity: from evolution to modernity

A Liston, S Humblet-Baron, D Duffy, A Goris - Nature immunology, 2021 - nature.com
The extreme diversity of the human immune system, forged and maintained throughout
evolutionary history, provides a potent defense against opportunistic pathogens. At the same …

New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

DP Wightman, IE Jansen, JE Savage, AA Shadrin… - Nature …, 2021 - nature.com
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …

Evolution of immune genes is associated with the Black Death

J Klunk, TP Vilgalys, CE Demeure, X Cheng… - Nature, 2022 - nature.com
Infectious diseases are among the strongest selective pressures driving human evolution,.
This includes the single greatest mortality event in recorded history, the first outbreak of the …

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 …

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

JA Morris, C Caragine, Z Daniloski, J Domingo, T Barry… - Science, 2023 - science.org
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …

A genomic region associated with protection against severe COVID-19 is inherited from Neandertals

H Zeberg, S Pääbo - … of the National Academy of Sciences, 2021 - National Acad Sciences
It was recently shown that the major genetic risk factor associated with becoming severely ill
with COVID-19 when infected by severe acute respiratory syndrome coronavirus 2 (SARS …

[HTML][HTML] Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases

M Ota, Y Nagafuchi, H Hatano, K Ishigaki, C Terao… - Cell, 2021 - cell.com
Genetic studies have revealed many variant loci that are associated with immune-mediated
diseases. To elucidate the disease pathogenesis, it is essential to understand the function of …