Smoking, alcohol consumption, and 24 gastrointestinal diseases: Mendelian randomization analysis

S Yuan, J Chen, X Ruan, Y Sun, K Zhang, X Wang, X Li… - Elife, 2023 - elifesciences.org
Background: Whether the positive associations of smoking and alcohol consumption with
gastrointestinal diseases are causal is uncertain. We conducted this Mendelian …

Mono-and biallelic variant effects on disease at biobank scale

HO Heyne, J Karjalainen, KJ Karczewski, SM Lemmelä… - Nature, 2023 - nature.com
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …

Quantitative human paleogenetics: what can ancient DNA tell us about complex trait evolution?

EK Irving-Pease, R Muktupavela, M Dannemann… - Frontiers in …, 2021 - frontiersin.org
Genetic association data from national biobanks and large-scale association studies have
provided new prospects for understanding the genetic evolution of complex traits and …

High-throughput genetic clustering of type 2 diabetes loci reveals heterogeneous mechanistic pathways of metabolic disease

H Kim, KE Westerman, K Smith, J Chiou, JB Cole… - Diabetologia, 2023 - Springer
Aims/hypothesis Type 2 diabetes is highly polygenic and influenced by multiple biological
pathways. Rapid expansion in the number of type 2 diabetes loci can be leveraged to …

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

L Alonso, A Piron, I Morán, M Guindo-Martínez… - Cell reports, 2021 - cell.com
Genome-wide association studies (GWASs) identified hundreds of signals associated with
type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have …

Depression and 24 gastrointestinal diseases: a Mendelian randomization study

X Ruan, J Chen, Y Sun, Y Zhang, J Zhao… - Translational …, 2023 - nature.com
The causality of the association between depression and gastrointestinal diseases is
undetermined. We conducted Mendelian randomization (MR) analyses to systematically …

The first genome-wide association study for type 2 diabetes in youth: the Progress in Diabetes Genetics in Youth (ProDiGY) Consortium

S Srinivasan, L Chen, J Todd, J Divers, S Gidding… - Diabetes, 2021 - Am Diabetes Assoc
The prevalence of type 2 diabetes in youth has increased substantially, yet the genetic
underpinnings remain largely unexplored. To identify genetic variants predisposing to youth …

A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration

LD Orozco, LA Owen, J Hofmann, AD Stockwell, J Tao… - Cell genomics, 2023 - cell.com
Age-related macular degeneration (AMD) is a leading cause of blindness, affecting 200
million people worldwide. To identify genes that could be targeted for treatment, we created …

Genome sequence analyses identify novel risk loci for multiple system atrophy

R Chia, A Ray, Z Shah, J Ding, P Ruffo, M Fujita… - Neuron, 2024 - cell.com
Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …