Identification of a novel locus associated with skin colour in African-admixed populations

• DOI: 10.1038/srep44548
• Publication Date: 2017-03-16T10:16:02Z
• Authors: Natalia Hernandez...; Carlos Flores; Santos Alonso; Celeste Eng; Angel C. Y. Mak; Scott Hunstman; Donglei Hu; Marquitta J. White; Sam S. Oh; Kelley Meade; Harold J. Farber; Pedro C. Avila; Denise Serebrisky; Shannon M. Thyne; Emerita Brigino-B...; William Rodriguez...; Saunak Sen; Rajesh Kumar; Michael Lenoir; Jose R. Rodriguez...; Esteban G. Burchard; Maria Pino-Yanes
• Keywords: Trait; Genome-wide Association Study; African descent; Intergenic region; Genetic admixture; Genetic Association; Genetic genealogy

Abstract Skin pigmentation is a complex trait that varies largely among populations. Most genome-wide association studies of this have been performed in Europeans and Asians. We aimed to uncover genes influencing skin colour African-admixed individuals. study melanin levels 285 Hispanic/Latino individuals from Puerto Rico, analyzing 14 million genetic variants. A total 82 variants with p -value ≤1 × 10 −5 were followed up 373 African Americans. Fourteen single nucleotide polymorphisms replicated, which nine associated at significance meta-analysis across the two studies. These results validated previously known genes, SLC24A5 (minimum = 2.62 −14 , rs1426654) SLC45A2 9.71 −10 rs16891982), revealed intergenic region BEND7 PRPF18 as novel locus 4.58 −9 rs6602666). The most significant variant within common African-descent populations but not or Native Our findings support advantages discover new pigmentation.