rs10080040 - SLC45A2

Magnitude 2.2 · 1 study on file

Reported associations

  • Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort - Unknown journal (n.d.) · Unknown authors · PubMed 36672889

    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


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Lifestyle

  • midday sun avoidance and protective clothing Moderate

    T allele confers reduced skin pigmentation and increased sunburn susceptibility, requiring enhanced photoprotection

    Limit direct sun exposure 10am-4pm; wear protective clothing, hats, and SPF 30+ sunscreen daily

Screening

  • annual skin examination for skin cancer Moderate

    Increased sunburn susceptibility and reduced pigmentation from T allele carriers increase melanoma and non-melanoma skin cancer risk

    Schedule annual full-body dermatological examination; perform monthly self-examination for new or changing moles