Pleiotropy in complex traits: challenges and strategies

N Solovieff, C Cotsapas, PH Lee, SM Purcell… - Nature Reviews …, 2013 - nature.com
Genome-wide association studies have identified many variants that each affects multiple
traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders …

Genetics and pathogenesis of inflammatory bowel disease

B Khor, A Gardet, RJ Xavier - Nature, 2011 - nature.com
Recent advances have provided substantial insight into the maintenance of mucosal
immunity and the pathogenesis of inflammatory bowel disease. Cellular programs …

[HTML][HTML] The NeST long ncRNA controls microbial susceptibility and epigenetic activation of the interferon-γ locus

JA Gomez, OL Wapinski, YW Yang, JF Bureau… - Cell, 2013 - cell.com
Long noncoding RNAs (lncRNAs) are increasingly appreciated as regulators of cell-specific
gene expression. Here, an enhancer-like lncRNA termed NeST (nettoie Salmonella pas …

[PDF][PDF] Abundant pleiotropy in human complex diseases and traits

S Sivakumaran, F Agakov, E Theodoratou… - The American Journal of …, 2011 - cell.com
We present a systematic review of pleiotropy among SNPs and genes reported to show
genome-wide association with common complex diseases and traits. We find abundant …

Analysing biological pathways in genome-wide association studies

K Wang, M Li, H Hakonarson - Nature Reviews Genetics, 2010 - nature.com
Genome-wide association (GWA) studies have typically focused on the analysis of single
markers, which often lacks the power to uncover the relatively small effect sizes conferred by …

Beyond gene discovery in inflammatory bowel disease: the emerging role of epigenetics

NT Ventham, NA Kennedy, ER Nimmo, J Satsangi - Gastroenterology, 2013 - Elsevier
In the past decade, there have been fundamental advances in our understanding of genetic
factors that contribute to the inflammatory bowel diseases (IBDs) Crohn's disease and …

[PDF][PDF] Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci

D Ellinghaus, E Ellinghaus, RP Nair, PE Stuart… - The American Journal of …, 2012 - cell.com
Psoriasis (PS) and Crohn disease (CD) have been shown to be epidemiologically,
pathologically, and therapeutically connected, but little is known about their shared genetic …

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci

JP Bradfield, HQ Qu, K Wang, H Zhang… - PLoS …, 2011 - journals.plos.org
Diabetes impacts approximately 200 million people worldwide, of whom approximately 10%
are affected by type 1 diabetes (T1D). The application of genome-wide association studies …

Sex-dependent shared and nonshared genetic architecture across mood and psychotic disorders

GAM Blokland, J Grove, CY Chen, C Cotsapas… - Biological …, 2022 - Elsevier
Background Sex differences in incidence and/or presentation of schizophrenia (SCZ), major
depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for …

[PDF][PDF] Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population

M Nakamura, N Nishida, M Kawashima, Y Aiba… - The American Journal of …, 2012 - cell.com
For the identification of susceptibility loci for primary biliary cirrhosis (PBC), a genome-wide
association study (GWAS) was performed in 963 Japanese individuals (487 PBC cases and …