Serrano González, Joseline

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    Polymorphisms influencing the shovel-shaped incisors phenotype in Puerto Rico
    (2017) Serrano González, Joseline; Martínez Cruzado, Juan C.; College of Arts and Sciences - Sciences; Oleksyk, Taras K.; Acevedo Suárez, Carlos A.; Department of Biology; Zapata, Rocío
    Puerto Ricans phenotypic traits are a combination of the admixture of their ancestors Taínos with Europeans and Africans. Shovel-shaped incisors are a common trait among Taínos’ skeletons and are still present in the Puerto Rican population. It is a phenotypic trait derived from its ancestors in Asia, and has been almost exclusive to that population for thousands of years. It has been reported that a SNP in Ectodysplasin A-receptor (EDAR), rs3827760, is a genetic determinant for the phenotype but it might not be the only one. In the present study we aimed to find other SNPs that are also determinant for shovel-shaped incisors, and to examine if the EDAR region has undergone positive selection in the Puerto Rican population. We collected maxillary plaster casts from Puerto Ricans to determine shoveling grade and saliva samples to genotype candidate SNPs. We also genotyped the SNP rs3827760 in 452 representative samples of the Puerto Rican population to determine its allelic frequency. We found that the SNP rs3827760 explains 39% of the variance and that for each copy of the allele 1540C the shoveling grade increases 0.9 in the shoveling grade scale. The allelic frequency for this SNP was 13%, and this allowed us to estimate the Native American frequency in the EDAR locus at 16%. By comparing this estimated frequency to the 15.2% frequency of the Native American throughout the genome as a whole for the same sample set, we conclude that the EDAR region has not been positively selected in Puerto Ricans.