Evidence map›Paper›PMID 20546537›Full record

SynthesisPigment cell & melanoma research2010

Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

Meg R Gerstenblith, Jianxin Shi, Maria Teresa Landi

Abstract readMeta-AnalysisReview
In one paragraph

Synthesis in Pigment cell & melanoma research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.

0numbers the graph read from it
0cells of the map it votes in
69citing papers in PubMed
–field-weighted citation impact
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

69 citing papers in PubMed.

  1. Predictors of genetic risk recall among the participants of a randomized controlled precision prevention trial against melanoma.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Trial
  2. Trial
  3. Trial
  4. Using genetic proxies for lifecourse sun exposure to assess the causal relationship of sun exposure with circulating vitamin d and prostate cancer risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013
    Trial
  5. Article
  6. Beyond the Classics: The Synergy of AI and Genomics Reveals an Expanded Repertoire of Pigmentation Genes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2026
    Review
  7. Population- and haplotype-dependent variation aroundJID innovations : skin science from molecules to population health · 2026
    Article
  8. Article
  9. A Comprehensive Review of GWASs of Human Hair Traits.The Journal of investigative dermatology · 2025
    Review
  10. Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

9 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

3 authors.

Meg R GerstenblithGenetic Epidemiology Branch/Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Jianxin Shi
Maria Teresa Landi

Funding

GEI - Genome-Wide Association StudiesZIACP010200 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI CAPORASO, NEIL E. · 2009 to 2021
$2.3M
Genome-Wide Association StudiesZ01CP010200 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI FRAUMENI, JOSEPH · 2008 to 2008
$50k
Intramural NIH HHS Z01 CP010200Intramural NIH HHS ZIA CP010200
6 · The paper itself

Abstract

Recent genome-wide association studies (GWAS) identified genetic loci associated with pigmentation, nevi, and skin cancer. We performed a review and meta-analysis of GWAS results, grouping them into four categories: (i) loci associated with pigmentation (hair, eye, and/or skin color), cutaneous UV-response (sun sensitivity and/or freckling), and skin cancer; (ii) loci associated with nevi and melanoma; (iii) loci associated with pigmentation and/or cutaneous UV-response but not skin cancer; and (iv) loci associated distinctly with skin cancer, mostly basal cell carcinoma, but not pigmentation or cutaneous UV-response. These findings suggest at least two pathways for melanoma development (via pigmentation and via nevi), and two pathways for basal cell carcinoma development (via pigmentation and independent of pigmentation). However, further work is necessary to separate the association with skin cancer from the association with pigmentation. As with any GWAS, the identified loci may not include the causal variants and may need confirmation by direct genome sequencing.

Indexed as

Genome-Wide Association StudyAnimalsGenetic Predisposition to DiseaseGenotypeHumansMelanomaNevusPolymorphism, Single NucleotideSkin NeoplasmsSkin PigmentationUltraviolet Rays

Identifiers

PMID20546537
PMCPMC3179913

What OpenQuestion holds

Textmetadata
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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.