Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression ofHLA-A*02:01in vivo

(2016) Masahiro Hayashi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo

(2016) Giulio Cavalli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

(2015) Fan Liu et al.   HUMAN GENETICS

Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter

(2015) Mijke Visser et al.   HUMAN MOLECULAR GENETICS

Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases

(2015) H. Guo et al.   HUMAN MOLECULAR GENETICS

Vitiligo-Like Depigmentation in Patients With Stage III-IV Melanoma Receiving Immunotherapy and Its Association With Survival: A Systematic Review and Meta-Analysis

(2015) Hansje-Eva Teulings et al.   JOURNAL OF CLINICAL ONCOLOGY

Melanoma genetics

(2015) Jazlyn Read et al.   JOURNAL OF MEDICAL GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

PANTHER version 10: expanded protein families and functions, and analysis tools

(2015) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease

(2015) Maria Wilbe et al.   PLoS Genetics

A Genome-Wide Association Study of Myasthenia Gravis

(2015) Alan E. Renton et al.   JAMA Neurology

Re-Annotator: Annotation Pipeline for Microarray Probe Sequences

(2015) Janine Arloth et al.   PLoS One

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

(2014) Alexander Gusev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis

(2014) Garima Juyal et al.   GUT

Markedly reduced incidence of melanoma and nonmelanoma skin cancer in a nonconcurrent cohort of 10,040 patients with vitiligo

(2014) Andrea Paradisi et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Transcriptional enhancers: from properties to genome-wide predictions

(2014) Daria Shlyueva et al.   NATURE REVIEWS GENETICS

STRING v10: protein–protein interaction networks, integrated over the tree of life

(2014) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Accounting for eXentricities: Analysis of the X Chromosome in GWAS Reveals X-Linked Genes Implicated in Autoimmune Diseases

(2014) Diana Chang et al.   PLoS One

Defining functional DNA elements in the human genome

(2014) M. Kellis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression

(2014) B. P. Fairfax et al.   SCIENCE

Enhancer variants: evaluating functions in common disease

(2014) Olivia Corradin et al.   Genome Medicine

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Mapping of Immune-Mediated Disease Genes

(2013) Isis Ricaño-Ponce et al.   Annual Review of Genomics and Human Genetics

Functional interpretation of non-coding sequence variation: Concepts and challenges

(2013) Dirk S. Paul et al.   BIOESSAYS

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

(2013) Christian Praetorius et al.   CELL

Risk of Generalized Vitiligo Is Associated with the Common 55R-94A-247H Variant Haplotype of GZMB (Encoding Granzyme B)

(2013) Tracey M. Ferrara et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23

(2013) Yongzhe Li et al.   NATURE GENETICS

Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians

(2012) Wanling Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a susceptibility locus inSTAT4for Behçet's disease in Han Chinese in a genome-wide association study

(2012) Shengping Hou et al.   ARTHRITIS AND RHEUMATISM

Decreased risk of melanoma and nonmelanoma skin cancer in patients with vitiligo: a survey among 1307 patients and their partners

(2012) H.E. Teulings et al.   BRITISH JOURNAL OF DERMATOLOGY

Next-Generation DNA Re-Sequencing Identifies Common Variants of TYR and HLA-A that Modulate the Risk of Generalized Vitiligo via Antigen Presentation

(2012) Ying Jin et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis

(2012) Young Ho Lee et al.   MOLECULAR BIOLOGY REPORTS

PGC-1 Coactivators Regulate MITF and the Tanning Response

(2012) Jonathan Shoag et al.   MOLECULAR CELL

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

(2012) Ying Jin et al.   NATURE GENETICS

Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci

(2012) Nicholas Eriksson et al.   PLoS One

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

(2011)   NATURE GENETICS

g:Profiler—a web server for functional interpretation of gene lists (2011 update)

(2011) Jüri Reimand et al.   NUCLEIC ACIDS RESEARCH

Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases

(2011) Vincent Plagnol et al.   PLoS Genetics

A simple and fast two-locus quality control test to detect false positives due to batch effects in genome-wide association studies

(2010) Sang Hong Lee et al.   GENETIC EPIDEMIOLOGY

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

(2010) Lynn Petukhova et al.   NATURE

Common variants in FOXP1 are associated with generalized vitiligo

(2010) Ying Jin et al.   NATURE GENETICS

Multiple common variants for celiac disease influencing immune gene expression

(2010) Patrick C A Dubois 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

Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci

(2010) Espen Melum et al.   NATURE GENETICS

Variant ofTYRand Autoimmunity Susceptibility Loci in Generalized Vitiligo

(2010) Ying Jin et al.   NEW ENGLAND JOURNAL OF MEDICINE

The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma

(2010) Richard A Spritz   Genome Medicine

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

MUM1/IRF4

(2010) Gabriela Gualco et al.   APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY

BimL directly neutralizes Bcl-xL to promote Bax activation during UV-induced apoptosis

(2009) Xianwang Wang et al.   FEBS LETTERS

Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry

(2009) Hongmei Nan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis

(2009) Peter K Gregersen et al.   NATURE GENETICS

Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

(2009) Jian-Wen Han et al.   NATURE GENETICS

Eos Mediates Foxp3-Dependent Gene Silencing in CD4+ Regulatory T Cells

(2009) F. Pan et al.   SCIENCE