ArticleThe British journal of dermatology2015
Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).
Article in The British journal of dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 39 citations in OpenAlex.
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Predicting the risk of malaria importation into Jiangsu Province, China: a modeling study.Globalization and health · 2024Article
- Dermoscopic features associated with 3-GEP PLA: LINC00518, PRAME, and TERT expression in suspicious pigmented lesions.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
- Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma.The British journal of dermatology · 2022Article
- Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.Current oncology (Toronto, Ont.) · 2021Article
- Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.Journal of clinical medicine · 2021Review
- On Naevi and Melanomas: Two Sides of the Same Coin?Frontiers in medicine · 2021Article
- Article
- Associations between benign cutaneous nevi and risk of Type 2 diabetes mellitus in men and women: results from two prospective cohort studies.Diabetic medicine : a journal of the British Diabetic Association · 2017Article
- Hormonal Regulation of the Repair of UV Photoproducts in Melanocytes by the Melanocortin Signaling Axis.Photochemistry and photobiology · 2017Review
- Towards three-dimensional temporal monitoring of naevi: a comparison of methodologies for assessing longitudinal changes in skin surface area around naevi.The British journal of dermatology · 2016Article
- The study of nevi in children: Principles learned and implications for melanoma diagnosis.Journal of the American Academy of Dermatology · 2016Review
- Biologically distinct subsets of nevi.Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia · 2016Review
- Clinical and dermoscopic patterns of acquired melanocytic nevi in children and adolescents: a cross-sectional study from Turkey.Anais brasileiros de dermatologiaArticle
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12 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundMelanocytic naevi are an important risk factor for melanoma. Naevi with distinct dermoscopic patterns can differ in size, distribution and host pigmentation characteristics.
objectivesWe examined MC1R and 85 other candidate loci in a cohort of children to test the hypothesis that the development and dermoscopic type of naevi are modulated by genetic variants.
methodsBuccal DNAs were obtained from a cohort of 353 fifth graders (mean age 10·4 years). Polymorphisms were chosen based on a known or anticipated role in naevi and melanoma. Associations between single-nucleotide polymorphisms (SNPs) and baseline naevus count were determined by multivariate regression adjusting for sex, race/ethnicity and sun sensitivity. Dermoscopic images were available for 853 naevi from 290 children. Associations between SNPs and dermoscopic patterns were determined by polytomous regression.
resultsFour SNPs were significantly associated with increasing (IRF4) or decreasing (PARP1, CDK6 and PLA2G6) naevus count in multivariate shrinkage analyses with all SNPs included in the model; IRF4 rs12203952 showed the strongest association with log naevus count (relative risk 1·56, P < 0·001). Using homogeneous naevi as the reference, IRF4 rs12203952 and four other SNPs in TERT, CDKN1B, MTAP and PARP1 were associated with either globular or reticular dermoscopic patterns (P < 0·05).
conclusionsOur results provide evidence that subsets of naevi defined by dermoscopic patterns differ in their associations with germline genotypes and support the hypothesis that dermoscopically defined subsets of naevi are biologically distinct. These results require confirmation in larger cohorts. If confirmed, these findings will improve the current knowledge of naevogenesis and assist in the identification of individuals with high-risk phenotypes.
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