Genetic and phenotypic variability of iris color in Buenos Aires population

Hohl, Diana María; Bezus, Brenda; Ratowiecki, Julia; Catanesi, Cecilia Inés

doi:10.1590/1678-4685-gmb-2017-0175

Cited by 16 publications

(17 citation statements)

References 55 publications

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“…In our study, no association may have been found by the low frequency of the allele A in our sample. Hohl et al in studies conducted in Buenos Aires population also found no significants associations between rs1393350 and eye color, he comments that the genetic context of iris color in Argentina is different from other countries due to population miscegenation (Hohl, Bezus, Ratowiecki, & Catanesi, 2018), as is the case in Brazil, according to Hohl, markers already elucidated in European countries should be carefully applied to populations with different characteristics.…”

Section: Discussionmentioning

confidence: 97%

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Souza

Bastos

Silva

et al. 2021

RSD

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The study of Externally Visible Characteristics (EVC) of pigmentation associated with SNPs (Single Nucleotide Polymorphisms) has become a target in the forensic field due to the possibility of phenotypically characterizing an individual. In Brazil, there are few data that shows the evaluation of some these markers, so further studies are necessary to understand better the pigmentation process related to genetic markers. The aim of this study was to test the association between 8 SNPs present in HIrisplex tool and EVC to provide a starting point for the development of prediction models for heterogeneous populations like the one in Pernambuco. Were evaluated 176 individuals by associations between self-reported eye, hair and skin color data and polymorphisms. Artificial intelligence tools were used for the prediction models. Significant associations were found between rs1800404 (OCA2), rs6058017 (ASIP), rs16891982 (SLC45A2) and rs1426654 (SLC24A5) with (EVC). The prediction models evaluated showed satisfactory prediction rates, rates above 60% for skin color and above 70% for eyes and hair. The associations found in our data show the importance of SNPs evaluation used in DNA Phenotyping, because of its ability to provide new information in the context of criminal investigations. Our data indicate that is possible to use molecular information to predict phenotypes in miscigenated populations, like the Brazilian population. These polymorphisms could be possible phenotypic predictors for the Pernambuco population.

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Section: Discussionmentioning

confidence: 97%

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Souza

Bastos

Silva

et al. 2021

RSD

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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%

“…Recently, genetic variants associated with pigmentation traits have been discovered in populations of other ancestries 59 . Although a similar predictive algorithm is not available for them yet, HIrisPlex-S (or its related versions: HIrisPlex and IrisPlex) has been tested in some Latin American and Asian populations, showing an acceptable performance for eye and hair colour predictions, better than for skin pigmentation, but exhibiting limitations in the prediction of intermediate phenotypes, which are more frequent in these groups 60–63, 64, 65 . Future research that addresses these shortcomings will not only advance the field of forensics but also will facilitate genetically- informed 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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“…In addition, the whole corneal region image was selected for image analysis in previous studies. However, the iris itself has color and texture features and has demonstrated individual differences [24,25]. Therefore, we segmented corneal pupil region images for analysis to ensure the accuracy and reliability of the measured data.…”

Section: Digital Analysis Of Postmortem Corneal Imagesmentioning

confidence: 99%

Corneal‐Smart Phone: A novel method to intelligently estimate postmortem interval

Zheng

Huo

Wen

et al. 2020

Journal of Forensic Sciences

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The estimate of postmortem interval (PMI) is one of the most significant and complex research topics in the field of forensic medicine. Finding convenient, objective, and accurate methods to estimate PMI has always been a problem that urgently needs to be solved. Ocular tissues can be stored for a long time during corpse decomposition due to protection of eyelids, orbital wall, and outer dense connective tissue [1]. Therefore, the use of changes in postmortem ocular tissues in determining PMI has been increasingly recognized by scholars [2-4]. The postmortem corneal becomes cloudy and wrinkled over time due to the gradual degeneration and necrosis of corneal cells, irregular thickening of corneal stroma, and water evaporation [5].

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Genetic and phenotypic variability of iris color in Buenos Aires population

Cited by 16 publications

References 55 publications

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

Forensic DNA Phenotyping: starting point to prediction model in Pernambuco population, Brazil

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

Corneal‐Smart Phone: A novel method to intelligently estimate postmortem interval

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