Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake
Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states.
Previous genetic studies have largely focused on insulin resistance in the fasting state, …
Previous genetic studies have largely focused on insulin resistance in the fasting state, …
[PDF][PDF] A statistical approach for testing cross-phenotype effects of rare variants
Increasing empirical evidence suggests that many genetic variants influence multiple distinct
phenotypes. When cross-phenotype effects exist, multivariate association methods that …
phenotypes. When cross-phenotype effects exist, multivariate association methods that …
[PDF][PDF] Loci for insulin processing and secretion provide insight into type 2 diabetes risk
KA Broadaway, X Yin, A Williamson, VA Parsons… - The American Journal of …, 2023 - cell.com
Insulin secretion is critical for glucose homeostasis, and increased levels of the precursor
proinsulin relative to insulin indicate pancreatic islet beta-cell stress and insufficient insulin …
proinsulin relative to insulin indicate pancreatic islet beta-cell stress and insufficient insulin …
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution
Y Wu, KA Broadaway, CK Raulerson… - Human molecular …, 2019 - academic.oup.com
Integration of genome-wide association study (GWAS) signals with expression quantitative
trait loci (eQTL) studies enables identification of candidate genes. However, evaluating …
trait loci (eQTL) studies enables identification of candidate genes. However, evaluating …
Genetic variants associated with hidradenitis suppurativa
Q Sun, KA Broadaway, SN Edmiston… - JAMA …, 2023 - jamanetwork.com
Importance Hidradenitis suppurativa (HS) is a common and severely morbid chronic
inflammatory skin disease that is reported to be highly heritable. However, the genetic …
inflammatory skin disease that is reported to be highly heritable. However, the genetic …
[HTML][HTML] Multi-ancestry genome-wide study in> 2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes. To characterise the genetic contribution to these processes across …
pathophysiological processes. To characterise the genetic contribution to these processes across …
A New Liver Expression Quantitative Trait Locus Map From 1,183 Individuals Provides Evidence for Novel Expression Quantitative Trait Loci of Drug Response …
…, PJ Gallins, D Jima, KA Broadaway… - Clinical …, 2020 - Wiley Online Library
Expression quantitative trait locus (eQTL) studies in human liver are crucial for elucidating
how genetic variation influences variability in disease risk and therapeutic outcomes and may …
how genetic variation influences variability in disease risk and therapeutic outcomes and may …
Modifiers of ovarian function in girls and women with classic galactosemia
…, EL Ryan, TJ Gleason, KA Broadaway… - The Journal of …, 2013 - academic.oup.com
Context: Classic galactosemia is a potentially lethal genetic disorder resulting from profound
impairment of galactose-1P uridylyltransferase (GALT). More than 80% of girls and women …
impairment of galactose-1P uridylyltransferase (GALT). More than 80% of girls and women …
[PDF][PDF] Genetic effects on liver chromatin accessibility identify disease regulatory variants
…, JR Idol, T Yan, RDO Albanus, KA Broadaway… - The American Journal of …, 2021 - cell.com
Identifying the molecular mechanisms by which genome-wide association study (GWAS)
loci influence traits remains challenging. Chromatin accessibility quantitative trait loci (caQTLs) …
loci influence traits remains challenging. Chromatin accessibility quantitative trait loci (caQTLs) …
[HTML][HTML] Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
…, AH Xiang, HS Choi, BE Cade, J Tan, KA Broadaway… - Nature, 2024 - nature.com
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological
processes 1 , 2 and molecular mechanisms that are often specific to cell type 3 , 4 . …
processes 1 , 2 and molecular mechanisms that are often specific to cell type 3 , 4 . …