Evidence map›Paper›PMID 21993561›Full record

ReviewThe Journal of investigative dermatology2012

Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis.

Richard A Spritz

Registry-linked trialOpen access · greenAbstract readReview
In one paragraph

Review in The Journal of investigative dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03859518 (Study of the Role of Innate Lymphoid Cells and Natural Killer Cells in Immune Activation of Vitiligo), which is not on this map. Cited by 47 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 1 pooled it
5.3field-weighted citation impact, top 4% 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.

NCT03859518 completednot on this mapstarted 2016, after this paper: background citation

Study of the Role of Innate Lymphoid Cells and Natural Killer Cells in Immune Activation of Vitiligo

TypeobservationalSponsorCentre Hospitalier Universitaire de NiceRan2016 to 2019Enrolled20ConditionsVitiligoArmsblood and skin samples
3 · Its place in the literature

Who cites it

47 citing papers in PubMed, 1 synthesis or guideline pooled it, 142 citations in OpenAlex.

  1. Pooled it
  2. Methodological strategies for mappingWorld journal of methodology · 2026
    Review
  3. Article
  4. Review
  5. Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. The Current Status of Antioxidants in the Treatment of Vitiligo in China.Oxidative medicine and cellular longevity · 2022
    Article
  11. Article
  12. Review
  13. Observational
  14. Mechanisms of melanocyte death in vitiligo.Medicinal research reviews · 2021
    Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Review
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

1 author at 1 institution in 1 country.

Richard A SpritzHuman Medical Genetics Program, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA. richard.spritz@ucdenver.edu
University of Colorado Denver · US

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
REGULATION OF EPIDERMAL DIFFERENTATION BY PTHRPR01AR045585 · NIAMS · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI FOLEY, JOHN GREGORY · 2000 to 2004
$1.4M
NIAMS NIH HHS R01 AR045584NIAMS NIH HHS R01 AR045585NIAMS NIH HHS R01 AR056292NIAMS NIH HHS R01 AR45585
6 · The paper itself

Abstract

Generalized vitiligo (GV) is a complex disease in which patchy depigmentation results from autoimmune loss of melanocytes from affected regions. Genetic analyses of GV span six decades, with the goal of understanding biological mechanisms and elucidating pathways that underlie the disease. The earliest studies attempted to describe the mode of inheritance and genetic epidemiology. Early genetic association studies of biological candidate genes resulted in some successes, principally HLA and PTPN22, but in hindsight many such reports now seem to be false-positives. Later, genome-wide linkage studies of multiplex GV families identified NLRP1 and XBP1, which appear to be valid GV susceptibility genes that control key aspects of immune regulation. Recently, the application of genome-wide association studies to analysis of GV has produced a rich yield of validated GV susceptibility genes that encode components of biological pathways reaching from immune cells to the melanocyte. These genes and pathways provide insights into underlying pathogenetic mechanisms and possible triggers of GV, establish relationships to other autoimmune diseases, and may provide clues to potential new approaches to GV treatment and perhaps even prevention. These results thus validate the hopes and efforts of the early investigators who first attempted to comprehend the genetic basis of vitiligo.

Indexed as

AutoimmunityGenome-Wide Association StudyGenetic LinkageGenetic Predisposition to DiseaseHLA-A AntigensHumansVitiligoHLA-A Antigens

Identifiers

PMID21993561
PMCPMC3258303
OpenAlexW1983805005

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.