Insights on hair, skin and eye color of ancient and contemporary Native Americans

Carratto, Thássia Mayra Telles; Marcorin, Letícia; Debortoli, Guilherme; Hünemeier, Tábita; Norton, Heather L.; Parra, Esteban J.; Castelli, Erick C.; Mendes-Junior, Celso Teixeira

doi:10.1016/j.fsigen.2020.102335

Cited by 13 publications

(8 citation statements)

References 39 publications

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“…This way of prediction can be helpful for individual identification in certain criminal investigations, and it is known as forensic DNA phenotyping (FDP) (Koops & Schellekens, 2008). However, the bulk of available studies on EVC genetics is mainly focused on European populations (Liu et al, 2009;Mengel-From et al, 2009;Shapturenko et al, 2019;Sulem et al, 2007;Walsh et al, 2012), and only more recently, the scientific community began to analyze this topic in admixed populations (Beleza et al, 2013;Edwards et al, 2015;Lloyd-Jones et al, 2017), especially from Latin America (Carratto et al, 2019(Carratto et al, , 2020(Carratto et al, , 2021Hohl et al, 2018;Marano et al, 2019;Palmal et al, 2021;Silva de Cerqueira et al, 2014). Considering that differences in the genetic pool of a population can influence phenotype predictions based on genotype information (Beleza et al, 2013;Carratto et al, 2019Carratto et al, , 2020Carratto et al, , 2021Frudakis et al, 2003;Popejoy & Fullerton, 2016;Sirugo et al, 2019), there is a need for these comprehensive studies in admixed populations.…”

Section: Introductionmentioning

confidence: 99%

“…However, the bulk of available studies on EVC genetics is mainly focused on European populations (Liu et al, 2009;Mengel-From et al, 2009;Shapturenko et al, 2019;Sulem et al, 2007;Walsh et al, 2012), and only more recently, the scientific community began to analyze this topic in admixed populations (Beleza et al, 2013;Edwards et al, 2015;Lloyd-Jones et al, 2017), especially from Latin America (Carratto et al, 2019(Carratto et al, , 2020(Carratto et al, , 2021Hohl et al, 2018;Marano et al, 2019;Palmal et al, 2021;Silva de Cerqueira et al, 2014). Considering that differences in the genetic pool of a population can influence phenotype predictions based on genotype information (Beleza et al, 2013;Carratto et al, 2019Carratto et al, , 2020Carratto et al, , 2021Frudakis et al, 2003;Popejoy & Fullerton, 2016;Sirugo et al, 2019), there is a need for these comprehensive studies in admixed populations. Concerning eye color, there are six single nucleotide polymorphisms (SNPs) described as the most important for defining this phenotype in humans, which led to creation of the system IrisPlex for phenotype prediction by analyzing the genotype (Liu et al, 2009;Walsh et al, 2011aWalsh et al, , 2011bWalsh et al, , 2013.…”

Section: Introductionmentioning

confidence: 99%

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Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina

Hohl

González

Meztler

et al. 2022

Annals of Human Genetics

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Eye color prediction based on an individual's genetic information is of interest in the field of forensic genetics. In recent years, researchers have studied different genes and markers associated with this externally visible characteristic and have developed methods for its prediction. The IrisPlex represents a validated tool for homogeneous populations, though its applicability in populations of mixed ancestry is limited, mainly regarding the prediction of intermediate eye colors. With the aim of validating the applicability of this system in an admixed population from Argentina (n = 302), we analyzed the six single nucleotide variants used in that multiplex for eye color and four additional SNPs, and evaluated its prediction ability. We also performed a genotype-phenotype association analysis. This system proved to be useful when dealing with the extreme ends of the eye color spectrum (blue and brown) but presented difficulties in determining the intermediate phenotypes (green), which were found in a large proportion of our population. We concluded that these genetic tools should be used with caution in admixed populations and that more studies are required in order to improve the prediction of intermediate phenotypes.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina

Hohl

González

Meztler

et al. 2022

Annals of Human Genetics

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“…According to the models used, the ancient Native Americans had intermediate/brown eyes, black hair, and intermediate/darker skin pigmentation, the same color estimated for the contemporary populations (Carratto et al, 2020). The last author's results are the most accurate data we were able to locate in the literature, but they need to be viewed with caution since the two predictor programs used by them, HIrisPlex-S and Snipper, were developed for modern European populations, emphasizing that their prediction power can be limited only to populations of this biogeographic origin.…”

Section: Native Americans: Skin Color and Vitamin Dmentioning

confidence: 80%

Adaptation and co‐adaptation of skin pigmentation and vitamin D genes in native Americans

Missaggia

Reales

Cybis

et al. 2020

American J of Med Genetics Pt C

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We carried out an exhaustive review regarding human skin color variation and how much it may be related to vitamin D metabolism and other photosensitive molecules. We discuss evolutionary contexts that modulate this variability and hypotheses postulated to explain them; for example, a small amount of melanin in the skin facilitates vitamin D production, making it advantageous to have fair skin in an environment with little radiation incidence. In contrast, more melanin protects folate from degradation in an environment with a high incidence of radiation. Some Native American populations have a skin color at odds with what would be expected for the amount of radiation in the environment in which they live, a finding challenging the so‐called “vitamin D–folate hypothesis.” Since food is also a source of vitamin D, dietary habits should also be considered. Here we argue that a gene network approach provides tools to explain this phenomenon since it indicates potential alleles co‐evolving in a compensatory way. We identified alleles of the vitamin D metabolism and pigmentation pathways segregated together, but in different proportions, in agriculturalists and hunter‐gatherers. Finally, we highlight how an evolutionary approach can be useful to understand current topics of medical interest.

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“…which are more frequent in these groups [60][61][62][63]64,65 . Future research that addresses these shortcomings will not only advance the field of forensics but also will facilitate geneticallyinformed studies such as this one in admixed populations.…”

Section: Limitationsmentioning

confidence: 99%

The skin we live in: pigmentation traits and tanning behaviour in British young adults, an observational and genetically-informed study

Bonilla

Mejía-Lancheros

2022

Preprint

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Background: Skin cancer incidence has been increasing worldwide, representing a particularly high burden for populations of European ancestry. Outdoor and indoor tanning using ultraviolet radiation (UVR) devices are major risk factors for skin cancer. While tanning behaviours can be modified by targeted interventions to reduce skin cancer rates, there is insufficient evidence on the motivations for tanning preferences and their relationship with pigmentation phenotypes. The present observational and genetically-informed study investigates motives for tanning and the role that pigmentation phenotypes play on outdoor and indoor tanning behaviour in British young adults. Methods: This study included 3722 participants from the Avon Longitudinal Study of Parents and Children in South West England. Skin, hair and eye colour features, and tanning ability and preferences were collected using a questionnaire applied when participants were ~25 years of age. Genotypes for 41 single nucleotide polymorphisms (SNPs) associated with pigmentation were obtained from a subset of participants who provided a biological sample, and used to estimate the probability of having particular pigmentation traits with the HIrisPlex-S system. Results: Liking to tan and outdoor tanning were strongly influenced by skin, hair and eye pigmentation, and tanning ability. However, the association of these traits with UV indoor tanning was weaker. Conversely, females, participants of lower socioeconomic position, individuals who were unhappy with their pigmentation phenotype during adolescence, and participants who believed that tanning helps prevent sunburn were more likely to have used UVR-based tanning devices. Conclusion: Our results provide evidence to support the implementation of skin cancer preventative interventions that consider individual biological characteristics and motives for undergoing outdoor and indoor tanning.

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Insights on hair, skin and eye color of ancient and contemporary Native Americans

Cited by 13 publications

References 39 publications

Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina

Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina

Adaptation and co‐adaptation of skin pigmentation and vitamin D genes in native Americans

The skin we live in: pigmentation traits and tanning behaviour in British young adults, an observational and genetically-informed study

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