ArticleThe Journal of investigative dermatology2015
A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.
Article in The Journal of investigative dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 4 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
55 citing papers in PubMed, 4 syntheses or guidelines pooled it, 134 citations in OpenAlex.
- Genetic determinants of skin ageing: a systematic review and meta-analysis of genome-wide association studies and candidate genes.Journal of physiological anthropology · 2025Pooled it
- A systematic review of skin ageing genes: gene pleiotropy and genes on the chromosomal band 16q24.3 may drive skin ageing.Scientific reports · 2022Pooled it
- Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.Communications biology · 2022Pooled it
- Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.Oncotarget · 2017Pooled it
- Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.Scientific reports · 2018Trial
- Natural Product Toosendanin Suppresses the Malignant Development of Skin Melanoma by Targeting BNC2 for Degradation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- BNC2 in Development and Disease: Regulatory Mechanisms and Translational Implications.Molecules (Basel, Switzerland) · 2026Review
- Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives.Genes · 2026Review
- Deciphering the molecular clock: exploring molecular mechanisms and genetic influences on skin ageing.Biogerontology · 2025Review
- Dynamic Network Driver Analysis Identifies Master Factors Associated with Progression of Solar Lentigines.Biology · 2025Article
- A broad assessment of forty-one skin phenotypes reveals complex dimensions of skin ageing.Journal of physiological anthropology · 2025Article
- Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs.Biology · 2025Article
- Linking ambient air pollution to mental health: evidence based on the two-sample Mendelian randomization and colocalization study.Translational psychiatry · 2024Article
- Predictive accuracy of genetic variants for eye color in a Kazakh population using the IrisPlex system.BMC research notes · 2024Article
- Article
- Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed.Frontiers in genetics · 2024Article
- Epigenetics insights from perceived facial aging.Clinical epigenetics · 2023Article
- Basonuclin-2 regulates extracellular matrix production and degradation.Life science alliance · 2023Article
- Identifying signatures of positive selection in human populations from North Africa.Scientific reports · 2023Article
- Prediction and association analyses of skin phenotypes in Japanese females using genetic, environmental, and physical features.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) · 2023Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Facial pigmented spots are a common skin aging feature, but genetic predisposition has yet to be thoroughly investigated. We conducted a genome-wide association study for pigmented spots in 2,844 Dutch Europeans from the Rotterdam Study (mean age: 66.9±8.0 years; 47% male). Using semi-automated image analysis of high-resolution digital facial photographs, facial pigmented spots were quantified as the percentage of affected skin area (mean women: 2.0% ±0.9, men: 0.9% ±0.6). We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9)). In addition, after adjustment for the other three top-associated loci the BNC2 locus demonstrated significant association (rs62543565, P=2.3 × 10(-8)). The association signals observed at all four loci were successfully replicated (P<0.05) in an independent Dutch cohort (Leiden Longevity Study n=599). Although the four genes have previously been associated with skin color variation and skin cancer risk, all association signals remained highly significant (P<2 × 10(-8)) when conditioning the association analyses on skin color. We conclude that genetic variations in IRF4, MC1R, RALY/ASIP, and BNC2 contribute to the acquired amount of facial pigmented spots during aging, through pathways independent of the basal melanin production.
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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.