ArticleAmerican journal of human genetics2001
Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 247 citations in OpenAlex.
- 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
- Age-specific melanoma risk associated with melanocytic nevi: a pooled analysis from the M-SKIP project.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026Article
- Polymorphism of Melanocortin Receptor Genes-Association with Inflammatory Traits and Diseases.Diseases (Basel, Switzerland) · 2025Review
- Genetic profiling and precision skin care: a review.Frontiers in genetics · 2025Review
- Adenosine and Its Receptors in the Pathogenesis and Treatment of Inflammatory Skin Diseases.International journal of molecular sciences · 2024Review
- Afamelanotide in protoporphyria and other skin diseases: a review.Postepy dermatologii i alergologii · 2024Review
- Review
- Article
- Molecular Mechanisms and Targeted Therapies of Advanced Basal Cell Carcinoma.International journal of molecular sciences · 2022Review
- Functional divergence of the pigmentation gene melanocortin-1 receptor (MC1R) in six endemic Macaca species on Sulawesi Island.Scientific reports · 2022Article
- Melanogenic effect of dersimelagon (MT-7117), a novel oral melanocortin 1 receptor agonist.Skin health and disease · 2022Article
- Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Review
- Cyclic adenosine monophosphate (cAMP) signaling in melanocyte pigmentation and melanomagenesis.Pigment cell & melanoma research · 2021Review
- The current status of anti-GPCR drugs against different cancers.Journal of pharmaceutical analysis · 2020Review
- Hierarchical modeling of melanocortin 1 receptor variants with skin cancer risk.Genetic epidemiology · 2018Article
- Article
- Genetic analysis of melanocortin 1 receptor red hair color variants in a Russian population of Eastern Siberia.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2018Article
- The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Melanocortin-1 receptor (MC1R) gene variants are associated with fair skin and red hair and, independently of these, with cutaneous malignant melanoma. The association of MC1R gene variants with nonmelanoma skin cancer is largely unknown. A total of 838 subjects were included in the present study: 453 patients with nonmelanoma skin cancer and 385 subjects with no skin cancer. The coding sequence of the human MC1R gene was tested using single-stranded conformation polymorphism analysis followed by sequencing of unknown variants. Risk of skin cancer dependent on the various MC1R gene variants was estimated using the exposure odds ratio. We investigated whether subjects with MC1R variant alleles were at increased risk of developing nonmelanoma skin cancer and, if so, whether this increased risk was mediated by fair skin and red hair. A total of 27 MC1R gene variants were found. The number of carriers of one, two, or three MC1R gene variants was 379 (45.2%), 208 (24.8%), and 7 (0.9%), respectively. A strong association between MC1R gene variants and fair skin and red hair was established, especially the variants Arg151Cys and Arg160Trp (P < .0001). Carriers of two variant alleles were at increased risk for developing cutaneous squamous cell carcinoma (odds ratio 3.77; 95% confidence interval [CI] 2.11-6.78), nodular basal cell carcinoma (odds ratio 2.26; 95% CI 1.45-3.52), and superficial multifocal basal cell carcinoma (odds ratio 3.43; 95% CI 1.92-6.15), compared with carriers of two wild-type alleles. Carriers of one variant allele had half the risk. The highest relative risks of nonmelanoma skin cancer were found in carriers of the Asp84Glu, His260Pro, and Asp294His variant alleles, and the risk was only slightly lower for carriers of the Val60Leu, Val92Met, Arg142His, Arg151Cys, and Arg160Trp variant alleles. When subjects were stratified by skin type and hair color, analysis showed that these factors did not materially change the relative risks. These findings indicate that MC1R gene variants are important independent risk factors for nonmelanoma skin cancer.
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