Pancreatic β-cells in type 1 and type 2 diabetes mellitus: different pathways to failure
DL Eizirik, L Pasquali, M Cnop - Nature Reviews Endocrinology, 2020 - nature.com
Loss of functional β-cell mass is the key mechanism leading to the two main forms of
diabetes mellitus—type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) …
diabetes mellitus—type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) …
From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
New insights into the genetic etiology of Alzheimer's disease and related dementias
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 …
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
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 …
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …
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 …
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
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 …
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 …
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …
The multiplex model of the genetics of Alzheimer's disease
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …
[HTML][HTML] Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases
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 …
diseases. To elucidate the disease pathogenesis, it is essential to understand the function of …
Where are the disease-associated eQTLs?
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 …
have detectable effects on gene expression. One explanation could be that we have not …