From genome-wide association studies to disease mechanisms: celiac disease as a model for autoimmune diseases

V Kumar, C Wijmenga, S Withoff - Seminars in immunopathology, 2012 - Springer
Celiac disease is characterized by a chronic inflammatory reaction in the intestine and is
triggered by gluten, a constituent derived from grains which is present in the common daily …

Complement genetics, deficiencies, and disease associations

KR Mayilyan - Protein & cell, 2012 - academic.oup.com
The complement system is a key component of innate immunity. More than 45 genes
encoding the proteins of complement components or their isotypes and subunits, receptors …

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart… - Nature …, 2012 - nature.com
To gain further insight into the genetic architecture of psoriasis, we conducted a meta-
analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets …

Genetically distinct subsets within ANCA-associated vasculitis

PA Lyons, TF Rayner, S Trivedi, JU Holle… - … England Journal of …, 2012 - Mass Medical Soc
Background Antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis is a severe
condition encompassing two major syndromes: granulomatosis with polyangiitis (formerly …

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

L Jostins, S Ripke, RK Weersma, RH Duerr… - Nature, 2012 - nature.com
Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease
(IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other …

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

BF Voight, HM Kang, J Ding, CD Palmer, C Sidore… - 2012 - journals.plos.org
Genome-wide association studies have identified hundreds of loci for type 2 diabetes,
coronary artery disease and myocardial infarction, as well as for related traits such as body …

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

JZ Liu, MA Almarri, DJ Gaffney, GF Mells, L Jostins… - Nature …, 2012 - nature.com
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium
and 8,514 UK population controls across 196,524 variants within 186 known autoimmune …

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

FW Asselbergs, Y Guo, EPA Van Iperen… - The American Journal of …, 2012 - cell.com
Genome-wide association studies (GWASs) have identified many SNPs underlying
variations in plasma-lipid levels. We explore whether additional loci associated with plasma …

Common variants at the MHC locus and at chromosome 16q24. 1 predispose to Barrett's esophagus

Esophageal Adenocarcinoma Genetics Consortium… - Nature …, 2012 - nature.com
Barrett's esophagus is an increasingly common disease that is strongly associated with
reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to …

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

S Naitza, E Porcu, M Steri, DD Taub, A Mulas… - PLoS …, 2012 - journals.plos.org
Identifying the genes that influence levels of pro-inflammatory molecules can help to
elucidate the mechanisms underlying this process. We first conducted a two-stage genome …