A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

ABSTRACT: We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.

• Autores: Bedoya Berrío, Gabriel de Jesús; Arias Pérez, William Hernán; Jaramillo Alzate, Claudia Milena; Ruíz Linares, Andrés; Mendoza Revilla, Javier; Sohail, Anood; Fuentes Guajardo, Macarena; Lampert, Jodie; Chacón Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Acuña Alonzo, Víctor; Barquera Lozano, Rodrigo; Everardo, Paola; Gómez Valdés, Jorge; Villamil Ramírez, Hugo; Silva de Cerqueira, Caio C.; Hunemeier, Tábita; Ramallo, Virginia; Schuler Faccini, Lavinia; Salzano, Francisco M.; González José, Rolando; Bortolini, Maria Cátira; Canizales Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Rothhammer, Francisco; Tobin, Desmond J.; Fumagalli, Matteo; Balding, David; Adhikari, Kaustubh
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2019
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/41126
• Acceso en línea: https://hdl.handle.net/10495/41126
• Palabra clave: Biological Evolution; Evolución Biológica; Epistasis, Genetic; Epistasis Genética; Gene Expression; Expresión Génica; Gene Frequency; Frecuencia de los Genes; Genetics, Population; Genética de Población; Genome, Human; Genoma Humano; Genome-Wide Association Study; Estudio de Asociación del Genoma Completo; Guanine Nucleotide Exchange Factors; Factores de Intercambio de Guanina Nucleótido; Membrane Proteins; Proteínas de la Membrana; Membrane Transport Proteins; Proteínas de Transporte de Membrana; Polymorphism, Single Nucleotide; Polimorfismo de Nucleótido Simple; Quantitative Trait Loci; Sitios de Carácter Cuantitativo; Receptor, Metabotropic Glutamate 5; Receptor del Glutamato Metabotropico 5; Skin Pigmentation; Pigmentación de la Piel; Ubiquitin-Protein Ligases; Ubiquitina-Proteína Ligasas; https://id.nlm.nih.gov/mesh/D005075; https://id.nlm.nih.gov/mesh/D004843; https://id.nlm.nih.gov/mesh/D015870; https://id.nlm.nih.gov/mesh/D005787; https://id.nlm.nih.gov/mesh/D005828; https://id.nlm.nih.gov/mesh/D015894; https://id.nlm.nih.gov/mesh/D055106; https://id.nlm.nih.gov/mesh/D020662; https://id.nlm.nih.gov/mesh/D008565; https://id.nlm.nih.gov/mesh/D026901; https://id.nlm.nih.gov/mesh/D020641; https://id.nlm.nih.gov/mesh/D040641; https://id.nlm.nih.gov/mesh/D064529; https://id.nlm.nih.gov/mesh/D012880; https://id.nlm.nih.gov/mesh/D044767
• Rights: openAccess
• License: https://creativecommons.org/licenses/by/4.0/