Evidence map›Paper›PMID 20410501›Full record

ArticleThe New England journal of medicine2010

Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

Ying Jin, Stanca A Birlea, Pamela R Fain, Katherine Gowan, Sheri L Riccardi, Paulene J Holland, Christina M Mailloux, Alexandra J D Sufit, Saunie M Hutton, Anita Amadi-Myers and 15 more

Open access · bronzeAbstract read
In one paragraph

Article in The New England journal of medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 182 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
182citing papers in PubMed, 14 pooled it
16.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

182 citing papers in PubMed, 14 syntheses or guidelines pooled it, 396 citations in OpenAlex.

  1. Association ofFrontiers in immunology · 2021
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  6. Interventions for vitiligo.The Cochrane database of systematic reviews · 2015
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  15. Methodological strategies for mappingWorld journal of methodology · 2026
    Review
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  20. The immunology of vitiligo.Nature reviews. Immunology · 2026
    Review

122 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors at 8 institutions in 5 countries.

Ying JinHuman Medical Genetics Program, School of Medicine, University of Colorado, P.O. Box 6511, Mailstop 8300, Aurora, CO 80045, USA.
Stanca A Birlea
Pamela R Fain
Katherine Gowan
Sheri L Riccardi
Paulene J Holland
Christina M Mailloux
Alexandra J D Sufit
Saunie M Hutton
Anita Amadi-Myers
Dorothy C Bennett
Margaret R Wallace
Wayne T McCormack
E Helen Kemp
David J Gawkrodger
Anthony P Weetman
Mauro Picardo
Giovanni Leone
Alain Taïeb
Thomas Jouary
Khaled Ezzedine
Nanny van Geel
Jo Lambert
Andreas Overbeck
Richard A Spritz
University of Colorado Denver · USHôpital Saint-André · FRGhent University Hospital · BESan Gallicano Hospital · ITSt George's, University of London · GBUniversity of Florida · USLumaMed (United States) · USRoyal Hallamshire Hospital · GB

Funding

VitGene International Consortium to Identify Susceptibility Genes for GeneralizedR01AR056292 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI SPRITZ, RICHARD ANDREW · 2008 to 2016
$6.9M
VitiligoR01AR045584 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI SPRITZ, RICHARD ANDREW · 1999 to 2014
$6.2M
NIAMS NIH HHS AR056292NIAMS NIH HHS AR45584NIAMS NIH HHS R01 AR045584NIAMS NIH HHS R01 AR056292
6 · The paper itself

Abstract

backgroundGeneralized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases.

methodsTo identify generalized vitiligo susceptibility loci, we conducted a genomewide association study. We genotyped 579,146 single-nucleotide polymorphisms (SNPs) in 1514 patients with generalized vitiligo who were of European-derived white (CEU) ancestry and compared the genotypes with publicly available control genotypes from 2813 CEU persons. We then tested 50 SNPs in two replication sets, one comprising 677 independent CEU patients and 1106 CEU controls and the other comprising 183 CEU simplex trios with generalized vitiligo and 332 CEU multiplex families.

resultsWe detected significant associations between generalized vitiligo and SNPs at several loci previously associated with other autoimmune diseases. These included genes encoding major-histocompatibility-complex class I molecules (P=9.05x10(-23)) and class II molecules (P=4.50x10(-34)), PTPN22 (P=1.31x10(-7)), LPP (P=1.01x10(-11)), IL2RA (P=2.78x10(-9)), UBASH3A (P=1.26x10(-9)), and C1QTNF6 (P=2.21x10(-16)). We also detected associations between generalized vitiligo and SNPs in two additional immune-related loci, RERE (P=7.07x10(-15)) and GZMB (P=3.44x10(-8)), and in a locus containing TYR (P=1.60x10(-18)), encoding tyrosinase.

conclusionsWe observed associations between generalized vitiligo and markers implicating multiple genes, some associated with other autoimmune diseases and one (TYR) that may mediate target-cell specificity and indicate a mutually exclusive relationship between susceptibility to vitiligo and susceptibility to melanoma.

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAutoimmune DiseasesGenetic MarkersGenome-Wide Association StudyGenotypeHumansMajor Histocompatibility ComplexMelanomaMonophenol MonooxygenaseVitiligoGenetic MarkersMonophenol Monooxygenase

Identifiers

PMID20410501
PMCPMC2891985
OpenAlexW2141665982

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.