ArticleGenes2023
Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.
Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family.Molecular cytogenetics · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- Fitzpatrick Skin Phototype Is Independently Associated with Differential Short-Term Cutaneous Reactivity Following Standardized Topical Provocation in Humans.Life (Basel, Switzerland) · 2026Article
- Lipidomics in Melanoma: Insights into Disease Progression and Therapeutical Targets.International journal of molecular sciences · 2026Review
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Weighting health-related estimates in the GCAT cohort and the general population of Catalonia.Scientific reports · 2025Article
- Non-Melanoma Skin Cancer: Dermatoscopic Diagnostic Clues in Mexican Individuals Based on Fitzpatrick Skin Phototypes.Journal of clinical medicine · 2025Article
- Inferring past demography and genetic adaptation in Spain using the GCAT cohort.Scientific reports · 2025Article
- Retinoic acid, an essential component of the roof plate organizer, promotes the spatiotemporal segregation of dorsal neural fates.Development (Cambridge, England) · 2024Article
- Article
- Ancestral origins and post-admixture adaptive evolution of highland Tajiks.National science review · 2024Article
- Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed.Frontiers in genetics · 2024Article
- Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human pigmentation has largely been associated with different disease prevalence among populations, but most of these studies are observational and inconclusive. Known to be genetically determined, pigmentary traits have largely been studied by Genome-Wide Association Study (GWAS), mostly in Caucasian ancestry cohorts from North Europe, identifying robustly, several loci involved in many of the pigmentary traits. Here, we conduct a detailed analysis by GWAS and Polygenic Risk Score (PRS) of 13 pigmentary-related traits in a South European cohort of Caucasian ancestry (n = 20,000). We observed fair phototype strongly associated with non-melanoma skin cancer and other dermatoses and confirmed by PRS-approach the shared genetic basis with skin and eye diseases, such as melanoma (OR = 0.95), non-melanoma skin cancer (OR = 0.93), basal cell carcinoma (OR = 0.97) and darker phototype with vitiligo (OR = 1.02), cataracts (OR = 1.04). Detailed genetic analyses revealed 37 risk loci associated with 10 out of 13 analyzed traits, and 16 genes significantly associated with at least two pigmentary traits. Some of them have been widely reported, such as
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