TY - JOUR
T1 - A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
AU - Adhikari, Kaustubh
AU - Mendoza-Revilla, Javier
AU - Sohail, Anood
AU - Fuentes-Guajardo, Macarena
AU - Lampert, Jodie
AU - Chacón-Duque, Juan Camilo
AU - Hurtado, Malena
AU - Villegas, Valeria
AU - Granja, Vanessa
AU - Acuña-Alonzo, Victor
AU - Jaramillo, Claudia
AU - Arias, William
AU - Lozano, Rodrigo Barquera
AU - Everardo, Paola
AU - Gómez-Valdés, Jorge
AU - Villamil-Ramírez, Hugo
AU - Silva de Cerqueira, Caio C.
AU - Hunemeier, Tábita
AU - Ramallo, Virginia
AU - Schuler-Faccini, Lavinia
AU - Salzano, Francisco M.
AU - Gonzalez-José, Rolando
AU - Bortolini, Maria Cátira
AU - Canizales-Quinteros, Samuel
AU - Gallo, Carla
AU - Poletti, Giovanni
AU - Bedoya, Gabriel
AU - Rothhammer, Francisco
AU - Tobin, Desmond J.
AU - Fumagalli, Matteo
AU - Balding, David
AU - Ruiz-Linares, Andrés
N1 - Publisher Copyright:
© 2019, The Author(s).
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85060188734
U2 - 10.1038/s41467-018-08147-0
DO - 10.1038/s41467-018-08147-0
M3 - Article
C2 - 30664655
AN - SCOPUS:85060188734
SN - 2041-1723
VL - 10
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 358
ER -