Evidence map›Paper›PMID 25280642›Full record

ArticleHuman genetics2014

Admixture mapping identifies a locus at 15q21.2-22.3 associated with keloid formation in African Americans.

Digna R Velez Edwards, Krystal S Tsosie, Scott M Williams, Todd L Edwards, Shirley B Russell

Open access · greenAbstract read
In one paragraph

Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 2 pooled it
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

31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Harnessing population genetics and animal models to uncover the genetics of skin scarring.Journal of plastic, reconstructive & aesthetic surgery : JPRAS · 2026
    Review
  5. Article
  6. Review
  7. Burns & trauma · 2025
    Article
  8. Article
  9. Update on the Pathogenesis of Keloid Formation.JID innovations : skin science from molecules to population health · 2024
    Review
  10. Review
  11. Article
  12. Review
  13. Characterization of the skin keloid microenvironment.Cell communication and signaling : CCS · 2023
    Review
  14. Article
  15. Review
  16. Review
  17. Article
  18. Article
  19. Genomics of Human Fibrotic Diseases: Disordered Wound Healing Response.International journal of molecular sciences · 2020
    Review
  20. Article
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

5 authors at 3 institutions in 1 country.

Digna R Velez EdwardsVanderbilt Epidemiology Center, 2525 West End Ave., Suite 600 6th Floor, Nashville, TN, 37203, USA, digna.r.velez.edwards@vanderbilt.edu.
Krystal S Tsosie
Scott M Williams
Todd L Edwards
Shirley B Russell
Center for Human Genetics · USDartmouth College · USVanderbilt University · US

Funding

VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
Vanderbilt/Meharry Initiative for Minority Student DvptR25GM062459 · NIGMS · VANDERBILT UNIVERSITY · PI VELEZ EDWARDS, DIGNA R · 2002 to 2020
$10.4M
Building Interdisciplinary Research Careers in Women's HealthK12HD043483 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI HARTMANN, KATHERINE E, MAJOR, AMY S · 2002 to 2023
$10.3M
Quantitative Biology Research InstituteP20GM103534 · NIGMS · DARTMOUTH COLLEGE · PI AMOS, CHRISTOPHER I. · 2012 to 2016
$8.6M
UV, APOPTOSIS, PROTEIN PHOSPHATASE AND SKIN DISEASEP30AR041943 · NIAMS · VANDERBILT UNIVERSITY · PI ELLIS, DARREL L. · 1994 to 2008
$5.3M
Training Program on Genetic Variation and Human PhenotypesT32GM080178 · NIGMS · VANDERBILT UNIVERSITY · PI COX, NANCY J, SAMUELS, DAVID C · 2007 to 2021
$3.1M
The Vanderbilt Institute for Clinical and Translational Research (VICTR) KL2KL2RR024977 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$3.0M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)KL2TR000446 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$2.8M
TESTING OF DENTAL RESTORATIVE MATERIALP50DE010595 · NIDCR · MEHARRY MEDICAL COLLEGE · PI LEVINE, ROBERT · 1995 to 2000
$909k
Genetic analysis of keloidsR03AR048938 · NIAMS · VANDERBILT UNIVERSITY · PI WILLIAMS, SCOTT MATTHEW · 2003 to 2005
$227k
Gene Expression and Variation in Keloid FibroblastsF33AR052241 · NIAMS · MIDDLE TENNESSEE RESEARCH INSTITUTE · PI RUSSELL, SHIRLEY B. · 2005 to 2006
$122k
NCATS NIH HHS 5KL2TR000446-08NCATS NIH HHS KL2 TR000446NCATS NIH HHS UL1 TR000445NCATS NIH HHS UL1TR000445NCRR NIH HHS 1UL1RR024975NCRR NIH HHS KL2 RR024977NCRR NIH HHS UL1 RR024975NIAMS NIH HHS F33 AR052241NIAMS NIH HHS F33AR052241NIAMS NIH HHS P30 AR041943NIAMS NIH HHS P30AR041943NIAMS NIH HHS R03 AR048938NIAMS NIH HHS R03AR048938NICHD NIH HHS 5K12HD04383-12NICHD NIH HHS K12 HD043483NIDCR NIH HHS P50DE10595NIGMS NIH HHS P20 GM103534NIGMS NIH HHS P20GM103534NIGMS NIH HHS R25 GM062459NIGMS NIH HHS T32 GM080178
6 · The paper itself

Abstract

Keloids are benign dermal tumors that occur ~20 times more often in African versus Caucasian descent individuals. While most keloids occur sporadically, a genetic predisposition is supported by both familial aggregation of some keloids and the large differences in risk among populations. Yet, no well-established genetic risk factors for keloids have been identified. In this study, we conducted admixture mapping and whole-exome association using 478 African Americans (AAs) samples (122 cases, 356 controls) with exome genotyping data to identify regions where local ancestry associated with keloid risk. Logistic regression was used to evaluate associations under admixture peaks. A significant mapping peak was observed on chr15q21.2-22.3. This peak included NEDD4, a gene previously implicated in a keloid genome-wide association study (GWAS) of Japanese individuals later validated in a Chinese cohort. While we observed modest evidence for association with NEDD4, a more significant association was observed at (myosin 1E) MYO1E. A genome scan not including the 15q21-22 region also identified associations at MYO7A (rs35641839, odds ratio [OR] = 4.71, 95% confidence interval [CI] 2.38-9.32, p = 8.34 × 10(-6)) at 11q13.5. The identification of SNPs in two myosin genes strongly associated with keloid formation suggests that an altered cytoskeleton contributes to the enhanced migratory and invasive properties of keloid fibroblasts. Our findings support the admixture mapping approach for the study of keloid risk, and indicate potentially common genetic elements on chr15q21.2-22.3 in causation of keloids in AAs, Japanese, and Chinese populations.

Indexed as

Black or African AmericanCase-Control StudiesChromosome MappingChromosomes, Human, Pair 15ExomeFemaleGene FrequencyGenetic Association StudiesGenetic LociGenetic Predisposition to DiseaseHumansKeloidMalePolymorphism, Single Nucleotide

Identifiers

PMID25280642
PMCPMC4334317
OpenAlexW1995851429

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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.