Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden

Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator ( AIRE )

(2018) Jordan K. Abbott et al.   JOURNAL OF AUTOIMMUNITY

Autoimmune Polyendocrine Syndromes

(2018) Eystein S. Husebye et al.   NEW ENGLAND JOURNAL OF MEDICINE

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

(2017) Adam Ameur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Accounting for genetic interactions improves modeling of individual quantitative trait phenotypes in yeast

(2017) Simon K G Forsberg et al.   NATURE GENETICS

INCREASING PREVALENCE OF ADDISON DISEASE: RESULTS FROM A NATIONWIDE STUDY

(2016) Andri Snaer Olafsson et al.   Endocrine Practice

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

(2016) João Fadista et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans

(2016) Agnieszka Pazderska et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical and immunological characteristics of Autoimmune Addison's disease: a nationwide Swedish multicenter study.

(2016) Frida Dalin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Extended exome sequencing identifiesBACH2as a novel major risk locus for Addison's disease

(2016) D. Eriksson et al.   JOURNAL OF INTERNAL MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1

(2016) Nils Landegren et al.   Scientific Reports

Determination of 21-hydroxylase autoantibodies: inter-laboratory concordance in the Euradrenal International Serum Exchange Program

(2015) Alberto Falorni et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

A European Emergency Card for adrenal insufficiency can save lives

(2015) Marcus Quinkler et al.   European Journal of Internal Medicine

CTLA-4 as a genetic determinant in autoimmune Addison’s disease

(2015) A S B Wolff et al.   GENES AND IMMUNITY

Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk

(2015) Zhong-Jun Feng et al.   HUMAN IMMUNOLOGY

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

(2015) Bergithe E. Oftedal et al.   IMMUNITY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

In vivoanalysis of helper T cell responses in patients with autoimmune polyendocrinopathy – candidiasis – ectodermal dystrophy provides evidence in support of an IL-22 defect

(2014) Sini M. Laakso et al.   AUTOIMMUNITY

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

(2014) Andrew R Carson et al.   BMC BIOINFORMATICS

Novel de novo mutations of the interleukin-10 receptor gene lead to infantile onset inflammatory bowel disease

(2014) Cheng Hiang Lee et al.   Journal of Crohns & Colitis

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Association of Autoimmune Addison's Disease with Alleles of STAT4 and GATA3 in European Cohorts

(2014) Anna L. Mitchell et al.   PLoS One

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Drug Prescription Patterns in Patients With Addison's Disease: A Swedish Population-Based Cohort Study

(2013) Sigridur Björnsdottir et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency

(2013) E. S. Husebye et al.   JOURNAL OF INTERNAL MEDICINE

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Association of the AIRE gene with susceptibility to rheumatoid arthritis in a European population: a case control study

(2013) José-Raúl García-Lozano et al.   ARTHRITIS RESEARCH & THERAPY

Five Years of GWAS Discovery

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

Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice

(2012) J. Kärner et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Annotation of functional variation in personal genomes using RegulomeDB

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

Autoimmune Addison disease: pathophysiology and genetic complexity

(2012) Anna L. Mitchell et al.   Nature Reviews Endocrinology

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population

(2011) Chikashi Terao et al.   HUMAN MOLECULAR GENETICS

Multiple Loci in the HLA Complex Are Associated with Addison's Disease

(2011) Beate Skinningsrud et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Presentation of Primary Adrenal Insufficiency in Childhood

(2011) Susan Hsieh et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A high-resolution map of human evolutionary constraint using 29 mammals

(2011) Kerstin Lindblad-Toh et al.   NATURE

A genome-wide association study identifies two new risk loci for Graves' disease

(2011)   NATURE GENETICS

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

(2011) Carl A Anderson et al.   NATURE GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Pervasive Sharing of Genetic Effects in Autoimmune Disease

(2011) Chris Cotsapas et al.   PLoS Genetics

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis

(2009) B. Skinningsrud et al.   ANNALS OF THE RHEUMATIC DISEASES

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Programmed Death Ligand 1 (PD-L1) Gene Variants Contribute to Autoimmune Addison’s Disease and Graves’ Disease Susceptibility

(2009) Anna L. Mitchell et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical, Immunological, and Genetic Features of Autoimmune Primary Adrenal Insufficiency: Observations from a Norwegian Registry

(2009) Martina M. Erichsen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I

(2009) E. S. Husebye et al.   JOURNAL OF INTERNAL MEDICINE

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

(2009) Jeffrey C Barrett et al.   NATURE GENETICS

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22) gene predisposes to autoimmune Addison's disease

(2008) Matthew Roycroft et al.   CLINICAL ENDOCRINOLOGY

Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

(2008) Bergithe E. Oftedal et al.   CLINICAL IMMUNOLOGY

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease

(2008) Beate Skinningsrud et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I

(2008) A S Bøe Wolff et al.   GENES AND IMMUNITY

Polymorphisms inCLEC16AandCIITAat 16p13 Are Associated with Primary Adrenal Insufficiency

(2008) Beate Skinningsrud et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I

(2008) Antonella Meloni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

(2008) Maureen A. Su et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE