Evidence map›Paper›PMID 19890347›Full record

ArticleThe Journal of investigative dermatology2010

Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.

Stanca A Birlea, Katherine Gowan, Pamela R Fain, Richard A Spritz

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of investigative dermatology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
2.8field-weighted citation impact, top 10% 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

39 citing papers in PubMed, 97 citations in OpenAlex.

  1. Review
  2. Article
  3. Identifying the genetic association between common rheumatic diseases and vitiligo.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024
    Article
  4. Article
  5. Analysis ofInternational journal of ophthalmology · 2024
    Article
  6. Article
  7. bioRxiv : the preprint server for biology · 2023
    Article
  8. Review
  9. Article
  10. Association AmongClinical, cosmetic and investigational dermatology · 2022
    Article
  11. Article
  12. Review
  13. TheGenetics · 2019
    Article
  14. Article
  15. Whole-Genome Cardiac DNA Methylation Fingerprint and Gene Expression Analysis Provide New Insights in the Pathogenesis of Chronic Chagas Disease Cardiomyopathy.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2017
    Article
  16. Genetics of Vitiligo.Dermatologic clinics · 2017
    Review
  17. Article
  18. The SPARC-related modular calcium binding protein 2 (Clinical ophthalmology (Auckland, N.Z.) · 2017
    Article
  19. Article
  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

4 authors at 1 institution in 1 country.

Stanca A BirleaHuman Medical Genetics Program, Department of Dermatology, University of Colorado Denver, Aurora, Colorado 80045, USA.
Katherine Gowan
Pamela R Fain
Richard A Spritz
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
NIAMS NIH HHS AR45584NIAMS NIH HHS R01 AR045584NIAMS NIH HHS R01 AR056292
6 · The paper itself

Abstract

Generalized vitiligo is a common disorder in which patchy loss of skin and hair pigmentation principally appears to result from autoimmune loss of melanocytes from affected regions. We previously characterized a unique founder population in an isolated Romanian community with elevated prevalence of generalized vitiligo and other autoimmune diseases, including autoimmune thyroid disease, rheumatoid arthritis, and type I diabetes mellitus. Here, we describe a genome-wide association study (GWAS) of generalized vitiligo in 32 distantly related affected patients from this remote village and 50 healthy controls from surrounding villages. Vitiligo was significantly associated with single-nucleotide polymorphisms (SNPs) in a 30-kb LD block on chromosome 6q27, in close vicinity to IDDM8, a linkage and association signal for type I diabetes mellitus and rheumatoid arthritis. The region of association contains only one gene, SMOC2, within which SNP rs13208776 attained genome-wide significance for association with generalized vitiligo (P=8.51x10(-8)) at odds ratio 7.445 (95% confidence interval=3.56-15.53) for the high-risk allele and population attributable risk 28.00. SMOC2 encodes a modular extracellular calcium-binding glycoprotein of unknown function. Our findings indicate that SMOC2 is a risk locus for generalized vitiligo and perhaps other autoimmune diseases.

Indexed as

Genome-Wide Association StudyArthritis, RheumatoidAutoimmunityCalcium-Binding ProteinsChromosomes, Human, Pair 6Diabetes Mellitus, Type 1Founder EffectGenetic LinkageGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideRisk FactorsRomaniaVitiligoCalcium-Binding ProteinsSMOC2 protein, human

Identifiers

PMID19890347
PMCPMC3511589
OpenAlexW2080730190

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.