Genetic insights into common pathways and complex relationships among immune-mediated diseases

Finding the sources of missing heritability in a yeast cross

(2013) Joshua S. Bloom et al.   NATURE

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

(2013) Yohei Kirino et al.   NATURE GENETICS

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci

(2013) Adrian Cortes et al.   NATURE GENETICS

Admixture Mapping in Lupus Identifies Multiple Functional Variants within IFIH1 Associated with Apoptosis, Inflammation, and Autoantibody Production

(2013) Julio E. Molineros et al.   PLoS Genetics

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Secukinumab, a human anti-IL-17A monoclonal antibody, for moderate to severe Crohn's disease: unexpected results of a randomised, double-blind placebo-controlled trial

(2012) Wolfgang Hueber et al.   GUT

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

(2012) Jo Knight et al.   HUMAN MOLECULAR GENETICS

TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis

(2012) Adam P. Gregory et al.   NATURE

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

(2012) Luke Jostins et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012) Jimmy Z Liu et al.   NATURE GENETICS

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

(2012) Steve Eyre et al.   NATURE GENETICS

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis

(2012) Soumya Raychaudhuri et al.   NATURE GENETICS

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller et al.   NATURE GENETICS

Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles

(2012) Benjamin P Fairfax et al.   NATURE GENETICS

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

(2012) Eli A Stahl et al.   NATURE GENETICS

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo

(2012) Ying Jin et al.   NATURE GENETICS

Chromatin marks identify critical cell types for fine mapping complex trait variants

(2012) Gosia Trynka et al.   NATURE GENETICS

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

(2012) Lam C Tsoi et al.   NATURE GENETICS

The role of IL-17-secreting mast cells in inflammatory joint disease

(2012) Tony J. Kenna et al.   Nature Reviews Rheumatology

Genetically Distinct Subsets within ANCA-Associated Vasculitis

(2012) Paul A. Lyons et al.   NEW ENGLAND JOURNAL OF MEDICINE

Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis

(2011) Anna Karin Hedström et al.   BRAIN

The autoimmune disease–associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness

(2011) Jinyi Zhang et al.   NATURE GENETICS

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

(2011) Gosia Trynka et al.   NATURE GENETICS

A20 (TNFAIP3) deficiency in myeloid cells triggers erosive polyarthritis resembling rheumatoid arthritis

(2011) Mourad Matmati et al.   NATURE GENETICS

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

(2011) Indra Adrianto et al.   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

(2011) David M Evans et al.   NATURE GENETICS

Expression of A20 by dendritic cells preserves immune homeostasis and prevents colitis and spondyloarthritis

(2011) Gianna Elena Hammer et al.   NATURE IMMUNOLOGY

IRF5 promotes inflammatory macrophage polarization and TH1-TH17 responses

(2011) Thomas Krausgruber et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

The IL23R R381Q Gene Variant Protects against Immune-Mediated Diseases by Impairing IL-23-Induced Th17 Effector Response in Humans

(2011) Paola Di Meglio et al.   PLoS One

Promise and pitfalls of the Immunochip

(2011) Adrian Cortes et al.   ARTHRITIS RESEARCH & THERAPY

Smoking is a major preventable risk factor for rheumatoid arthritis: estimations of risks after various exposures to cigarette smoke

(2010) H. Kallberg et al.   ANNALS OF THE RHEUMATIC DISEASES

B cells lacking the tumor suppressor TNFAIP3/A20 display impaired differentiation and hyperactivation and cause inflammation and autoimmunity in aged mice

(2010) Y. Chu et al.   BLOOD

Elucidating the chromosome 9 association with AS; CARD9 is a candidate gene

(2010) J J Pointon et al.   GENES AND IMMUNITY

Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection

(2010) R. Cagliani et al.   HUMAN MOLECULAR GENETICS

Multiple common variants for celiac disease influencing immune gene expression

(2010) Patrick C A Dubois et al.   NATURE GENETICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

(2010) Hansoo Park et al.   NATURE GENETICS

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

(2010) Amy Strange et al.   NATURE GENETICS

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

Reduced Expression of IFIH1 Is Protective for Type 1 Diabetes

(2010) Kate Downes et al.   PLoS One

A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis

(2010) Judith Field et al.   PLoS One

Behçet Disease and the HLA System

(2010) M. Takano et al.   TISSUE ANTIGENS

Balancing Selection Maintains a Form of ERAP2 that Undergoes Nonsense-Mediated Decay and Affects Antigen Presentation

(2010) Aida M. Andrés et al.   PLoS Genetics

Shared familial aggregation of susceptibility to autoimmune diseases

(2009) Kari Hemminki et al.   ARTHRITIS AND RHEUMATISM

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

(2009) Maria Ban et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

(2009) Inger-Lise Mero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autoimmunity to specific citrullinated proteins gives the first clues to the etiology of rheumatoid arthritis

(2009) Natalia Wegner et al.   IMMUNOLOGICAL REVIEWS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Specific interaction between genotype, smoking and autoimmunity to citrullinated α-enolase in the etiology of rheumatoid arthritis

(2009) Hiba Mahdi et al.   NATURE GENETICS

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

(2009) Jeffrey C Barrett et al.   NATURE GENETICS

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource

(2009) Calliope A Dendrou et al.   NATURE GENETICS

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions

(2009) Soumya Raychaudhuri et al.   PLoS Genetics

Genetic Analysis of Innate Immunity in Crohn's Disease and Ulcerative Colitis Identifies Two Susceptibility Loci Harboring CARD9 and IL18RAP

(2008) Alexandra Zhernakova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

(2008) Andre Franke et al.   NATURE GENETICS