Skin Pigmentation Genetics for the Clinic
| Autor: | Katie J. Lee, Stephen A. Ainger, H. Peter Soyer, Richard A. Sturm, K. Jagirdar |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Skin Neoplasms Albinism Skin Pigmentation Single-nucleotide polymorphism Dermatology Biology Melanocyte Polymorphism Single Nucleotide Antiporters Group VI Phospholipases A2 03 medical and health sciences Antigens Neoplasm CDKN2A medicine Cyclin-Dependent Kinase Inhibitor p18 Humans Hair Color Melanoma Nevus Cyclin-Dependent Kinase Inhibitor p16 Genetics Microphthalmia-Associated Transcription Factor Stem Cell Factor Membrane Glycoproteins integumentary system Monophenol Monooxygenase Cyclin-Dependent Kinase 4 Membrane Transport Proteins medicine.disease Microphthalmia-associated transcription factor Biological Evolution Penetrance Intramolecular Oxidoreductases 030104 developmental biology medicine.anatomical_structure Purine-Nucleoside Phosphorylase Interferon Regulatory Factors Agouti Signaling Protein sense organs Gene polymorphism Skin cancer Oxidoreductases Receptor Melanocortin Type 1 |
| Zdroj: | Dermatology. 233:1-15 |
| ISSN: | 1421-9832 1018-8665 |
| DOI: | 10.1159/000468538 |
| Popis: | Human pigmentation characteristics play an important role in the effects of sun exposure, skin cancer induction and disease outcomes. Several of the genes most important for this diversity are involved in the regulation and distribution of melanin pigmentation or enzymes involved in melanogenesis itself within the melanocyte cell present in the skin, hair and eyes. The single nucleotide polymorphisms and extended haplotypes within or surrounding these genes have been identified as risk factors for skin cancer, in particular, melanoma. These same polymorphisms have been under selective pressure leading towards lighter pigmentation in Europeans in the last 5,000-20,000 years that have driven the increase in frequency in modern populations. Although pigmentation is a polygenic trait, due to interactive and quantitative gene effects, strong phenotypic associations are readily apparent for these major genes. However, predictive value and utility are increased when considering gene polymorphism interactions. In melanoma, an increased penetrance is found in cases when pigmentation gene risk alleles such as MC1R variants are coincident with mutation of higher-risk melanoma genes including CDKN2A, CDK4 and MITF E318K, demonstrating an interface between the pathways for pigmentation, naevogenesis and melanoma. The clinical phenotypes associated with germline changes in pigmentation and naevogenic genes must be understood by clinicians, and will be of increasing relevance to dermatologists, as genomics is incorporated into the delivery of personalised medicine. |
| Databáze: | OpenAIRE |
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