Genetic and phenotypic variability of iris color in Buenos Aires population

Abstract The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) i...

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Main Authors: Diana María Hohl, Brenda Bezus, Julia Ratowiecki, Cecilia Inés Catanesi
Format: Article
Language:English
Published: Sociedade Brasileira de Genética
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100050&lng=en&tlng=en
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author Diana María Hohl
Brenda Bezus
Julia Ratowiecki
Cecilia Inés Catanesi
author_facet Diana María Hohl
Brenda Bezus
Julia Ratowiecki
Cecilia Inés Catanesi
author_sort Diana María Hohl
collection DOAJ
description Abstract The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those of other populations of the world for these polymorphisms (p < 0,01). The differences we found might respond to the admixed ethnic composition of Argentina; therefore, methods of analysis used in European populations should be carefully applied when studying the population of Argentina. These findings reaffirm the importance of this investigation in the Argentinian population for people identification based on iris color.
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spelling doaj.art-33e11fe6fcd74ae79adf03cc1b0bf6832022-12-21T23:28:09ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-4685411505810.1590/1678-4685-gmb-2017-0175S1415-47572018000100050Genetic and phenotypic variability of iris color in Buenos Aires populationDiana María HohlBrenda BezusJulia RatowieckiCecilia Inés CatanesiAbstract The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those of other populations of the world for these polymorphisms (p < 0,01). The differences we found might respond to the admixed ethnic composition of Argentina; therefore, methods of analysis used in European populations should be carefully applied when studying the population of Argentina. These findings reaffirm the importance of this investigation in the Argentinian population for people identification based on iris color.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100050&lng=en&tlng=enPopulation geneticsIris colorforensic geneticsphenotype determinationArgentinian population
spellingShingle Diana María Hohl
Brenda Bezus
Julia Ratowiecki
Cecilia Inés Catanesi
Genetic and phenotypic variability of iris color in Buenos Aires population
Genetics and Molecular Biology
Population genetics
Iris color
forensic genetics
phenotype determination
Argentinian population
title Genetic and phenotypic variability of iris color in Buenos Aires population
title_full Genetic and phenotypic variability of iris color in Buenos Aires population
title_fullStr Genetic and phenotypic variability of iris color in Buenos Aires population
title_full_unstemmed Genetic and phenotypic variability of iris color in Buenos Aires population
title_short Genetic and phenotypic variability of iris color in Buenos Aires population
title_sort genetic and phenotypic variability of iris color in buenos aires population
topic Population genetics
Iris color
forensic genetics
phenotype determination
Argentinian population
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100050&lng=en&tlng=en
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AT brendabezus geneticandphenotypicvariabilityofiriscolorinbuenosairespopulation
AT juliaratowiecki geneticandphenotypicvariabilityofiriscolorinbuenosairespopulation
AT ceciliainescatanesi geneticandphenotypicvariabilityofiriscolorinbuenosairespopulation