rs115105970 - CFHR2 - CFHR5

Magnitude 4.5 · 1 study on file

Reported associations

• Identification of a novel locus associated with skin colour in African-admixed populations - Unknown journal (n.d.) · Unknown authors · PubMed 28300201

  ABSTRACT: Skin pigmentation is a complex trait that varies largely among populations. Most genome-wide association studies of this trait have been performed in Europeans and Asians. We aimed to uncover genes influencing skin colour in African-admixed individuals. We performed a genome-wide association study of melanin levels in 285 Hispanic/Latino individuals from Puerto Rico, analyzing 14 million genetic variants. A total of 82 variants with p-value ≤1 × 10−5 were followed up in 373 African Americans. Fourteen single nucleotide polymorphisms were replicated, of which nine were associated with skin colour at genome-wide significance in a meta-analysis across the two studies. These results validated the association of two previously known skin pigmentation genes, SLC24A5 (minimum p

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