EXPLORING GENETIC VARIANTS RELATED TO SKIN PIGMENTATION IN MAYANS FROM THE YUCATAN PENINSULA, MEXICO

Published in 15/08/2022 - ISBN: 978-65-5941-779-7

Paper Title
EXPLORING GENETIC VARIANTS RELATED TO SKIN PIGMENTATION IN MAYANS FROM THE YUCATAN PENINSULA, MEXICO
Authors
  • Paola Everardo Martínez
  • Víctor Acuña Alonzo
  • Antonio González Martin
  • Prof.ª Dr.ª Lorena Madrigal
  • Conrado Martínez Cadenas
  • Bárbara Hernando Fuster
  • Jorge Gómez Valdés
Modality
Abstract
Subject area
Genetics and Genomics
Publishing Date
15/08/2022
Country of Publishing
Brazil | Brasil
Language of Publishing
Inglês
Paper Page
https://www.even3.com.br/anais/alab2020/501942-exploring-genetic-variants-related-to-skin-pigmentation-in-mayans-from-the-yucatan-peninsula-mexico
ISBN
978-65-5941-779-7
Keywords
skin pigmentation, complex traits, population genetics
Summary
Human skin pigmentation is a complex trait influenced by more than a dozen different genes. Here, for the first time, six well-known pigmentation-related variants with important continental differences were explored to assess its association to normal skin pigmentation in a sample of Mayan individuals. Six pigmentation-related SNPs (rs2153271 in BNC2, rs12203592 in IRF4, rs1800407 in OCA2, rs12896399 in SLC24A4, rs16891982 in SLC45A2, rs1042602 in TYR) were genotyped in 92 Mayan individuals from the state of Yucatan, Mexico. In order to explore ancestral components, genomic ancestry was estimated with ~ 700,000 markers using ADMIXTURE. Reflectance for constitutive and facultative Melanin Index (MI) values was measured. SLC45A2 rs16891982 was the only variant showing significant association with baseline skin pigmentation. This SLC45A2 SNP, together with OCA2 rs1800407, explained up to 19% of the baseline melanin index variance (R2=0.1904, p=3.88E-03). For facultative melanin index, SLC45A2 rs16891982 and TYR rs1042602 explained almost 14% of the variance (R2=0.1370, p=1.45E-03). We also describe the presence in this population of the derived light-skin related allele of rs2153271 in the BNC2 gene, not previously reported in other Native American populations. These findings underline the need to study the high diversity of the Native American genetic component through more locally focused research.
Title of the Event
16th Meeting of the Latin American Association of Biological Anthropology
City of the Event
São Paulo
Title of the Proceedings of the event
Annals of the 16th Meeting of the Latin American Association of Biological Anthropology
Name of the Publisher
Even3
Means of Dissemination
Meio Digital

How to cite

MARTÍNEZ, Paola Everardo et al.. EXPLORING GENETIC VARIANTS RELATED TO SKIN PIGMENTATION IN MAYANS FROM THE YUCATAN PENINSULA, MEXICO.. In: . Available in: https//www.even3.com.br/anais/alab2020/501942-EXPLORING-GENETIC-VARIANTS-RELATED-TO-SKIN-PIGMENTATION-IN-MAYANS-FROM-THE-YUCATAN-PENINSULA-MEXICO. Access in: 02/05/2025

Paper

Even3 Publicacoes