Pathway paradigms revealed from the genetics of inflammatory bowel disease

DB Graham, RJ Xavier - Nature, 2020 - nature.com
Inflammatory bowel disease (IBD) is a complex genetic disease that is instigated and
amplified by the confluence of multiple genetic and environmental variables that perturb the …

How autophagy controls the intestinal epithelial barrier

EG Foerster, T Mukherjee, L Cabral-Fernandes… - Autophagy, 2022 - Taylor & Francis
Macroautophagy/autophagy is a cellular catabolic process that results in lysosome-
mediated recycling of organelles and protein aggregates, as well as the destruction of …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

MA Nalls, C Blauwendraat, CL Vallerga… - The Lancet …, 2019 - thelancet.com
Background Genome-wide association studies (GWAS) in Parkinson's disease have
increased the scope of biological knowledge about the disease over the past decade. We …

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

A Sazonovs, CR Stevens, GR Venkataraman, K Yuan… - Nature …, 2022 - nature.com
Genome-wide association studies (GWASs) have identified hundreds of loci associated with
Crohn's disease (CD). However, as with all complex diseases, robust identification of the …

Parkinson disease and the immune system—associations, mechanisms and therapeutics

EK Tan, YX Chao, A West, LL Chan, W Poewe… - Nature Reviews …, 2020 - nature.com
Multiple lines of evidence indicate that immune system dysfunction has a role in Parkinson
disease (PD); this evidence includes clinical and genetic associations between autoimmune …

Inflammatory bowel disease and Parkinson's disease: common pathophysiological links

HS Lee, E Lobbestael, S Vermeire, J Sabino, I Cleynen - Gut, 2021 - gut.bmj.com
Inflammatory bowel disease and Parkinson's disease are chronic progressive disorders that
mainly affect different organs: the gut and brain, respectively. Accumulating evidence has …

Exome sequencing of Finnish isolates enhances rare-variant association power

AE Locke, KM Steinberg, CWK Chiang, SK Service… - Nature, 2019 - nature.com
Exome-sequencing studies have generally been underpowered to identify deleterious
alleles with a large effect on complex traits as such alleles are mostly rare. Because the …

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

C Blauwendraat, X Reed, L Krohn, K Heilbron… - Brain, 2020 - academic.oup.com
Parkinson's disease is a genetically complex disorder. Multiple genes have been shown to
contribute to the risk of Parkinson's disease, and currently 90 independent risk variants have …

Insights from complex trait fine-mapping across diverse populations

M Kanai, JC Ulirsch, J Karjalainen, M Kurki… - medrxiv, 2021 - medrxiv.org
Despite the great success of genome-wide association studies (GWAS) in identifying genetic
loci significantly associated with diseases, the vast majority of causal variants underlying …