ArticleAmerican journal of human genetics2002
A polymorphism in the agouti signaling protein gene is associated with human pigmentation.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 185 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
- Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.Pigment cell & melanoma research · 2010Pooled it
- Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.International journal of cancer · 2009Trial
- Locus- and Gene-Level Insights into the Inverse Association Between Alzheimer's Disease and Cancer.International journal of molecular sciences · 2026Article
- Prediction of Skin Color Using Forensic DNA Phenotyping in Asian Populations: A Focus on Thailand.Biomolecules · 2025Review
- Review
- Whole genome sequencing reveals signals of adaptive admixture in Creole cattle.Scientific reports · 2023Article
- Association between Variants in theGenes · 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
- Serum levels of hormones regulating appetite in patients with cystic fibrosis - a single-center, cross-sectional study.Frontiers in endocrinology · 2022Article
- A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.Human molecular genetics · 2019Article
- Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.International journal of molecular sciences · 2018Review
- Personalized skincare: from molecular basis to clinical and commercial applications.Clinical, cosmetic and investigational dermatology · 2018Review
- Adaptation of human skin color in various populations.Hereditas · 2018Review
- Global skin colour prediction from DNA.Human genetics · 2017Article
- Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour.Scientific reports · 2017Article
- Molecular mechanisms of flavonoids in melanin synthesis and the potential for the prevention and treatment of melanoma.Molecular nutrition & food research · 2016Review
- Article
- Exploration of SNP variants affecting hair colour prediction in Europeans.International journal of legal medicine · 2015Article
- Development and characterization of a novel rat model of estrogen-induced mammary cancer.Endocrine-related cancer · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
In mice and humans, binding of alpha-melanocyte--stimulating hormone to the melanocyte-stimulating--hormone receptor (MSHR), the protein product of melanocortin-1 receptor (MC1R) gene, leads to the synthesis of eumelanin. In the mouse, ligation of MSHR by agouti signaling protein (ASP) results in the production of pheomelanin. The role of ASP in humans is unclear. We sought to characterize the agouti signaling protein gene (ASIP) in a group of white subjects, to assess whether ASIP was a determinant of human pigmentation and whether this gene may be associated with increased melanoma risk. We found no evidence of coding-region sequence variation in ASIP, but detected a g.8818A-->G polymorphism in the 3' untranslated region. We genotyped 746 participants in a study of melanoma susceptibility for g.8818A-->G, by means of polymerase chain reaction and restriction fragment--length polymorphism analysis. Among the 147 healthy controls, the frequency of the G allele was.12. Carriage of the G allele was significantly associated with dark hair (odds ratio 1.8; 95% confidence interval [CI] 1.2--2.8) and brown eyes (odds ratio 1.9; 95% CI 1.3--2.8) after adjusting for age, gender, and disease status. ASIP g.8818A-->G was not associated independently with disease status. This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk.
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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.