HERC2 (rs12913832) and OCA2 (rs1800407) genes polymorphisms in relation to iris color variation in Belarusian population

Шаптуренко, М. Н.; Вакула, С. И.; Kandratsiuk, A.V.; Gudievskaya, Irena G.; Shinkevich, M.V.; Luhauniou, A.U.; Borovko, Sergey R.; Марченко, Л. Н.; Kilchevsky, A. V.

doi:10.1016/j.fsigss.2019.09.127

Cited by 6 publications

(5 citation statements)

References 4 publications

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“…Although the sample size was limited (n = 24), rs12913832 AA individuals of Norwegian ancestry had less brown eye colours (based on PIE-score) than individuals of non-northern European ancestry. The rs12913832 A allele is positively affecting transcription of OCA2 and has been shown to be strongly associated with dark iris colour [18,43]. However, a nonsynonymous mutation (A-allele) in rs1800407 is suggested to be a penetrance modifier of rs12913832, associated with lighter eye colour [19,30,44].…”

Section: Tablementioning

confidence: 99%

Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit

Salvo

Janssen

Kirsebom

et al. 2022

Forensic Science International: Genetics

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Prediction of eye and hair colour from DNA can be an important investigative tool in forensic cases if conventional DNA profiling fails to match DNA from any known suspects or cannot obtain a hit in a DNA database. The HIrisPlex model for simultaneous eye and hair colour predictions was developed for forensic usage. To genotype a DNA sample, massively parallel sequencing (MPS) has brought new possibilities to the analysis of forensic DNA samples. As part of an in-house validation, this study presents the genotyping and predictive performance of the HIrisPlex SNPs in a Norwegian study population, using Verogen's ForenSeq™ DNA Signature Prep Kit on the MiSeq FGx system and the HIrisPlex webtool. DNA-profiles were successfully typed with DNA input down to 125 pg. In samples with DNA input < 125 pg, false homozygotes were observed with as many as 92 reads. Prediction accuracies in terms of AUC were high for red (0.97) and black (0.93) hair colours, as well as blue (0.85) and brown (0.94) eye colours. The AUCs for blond (0.72) and brown (0.70) hair colour were considerably lower. None of the individuals was predicted to have intermediate eye colour. Therefore, the error rates of the overall eye colour predictions were 37% with no predictive probability threshold (pmax) and 26% with a probability threshold of 0.7. We also observed that more than half of the incorrect predictions were for individuals carrying the rs12913832 GG genotype. For hair colour, 65% of the individuals were correctly predicted when using the highest probability category approach. The main error was observed for individuals with brown hair colour that were predicted to have blond hair. Utilising the prediction guide approach increased the correct predictions to 75%. Assessment of phenotype-genotype associations of eye colours using a quantitative eye colour score (PIEscore), revealed that rs12913832 AA individuals of Norwegian descent had statistically significantly higher PIEscore (less brown eye colour) than individuals of non-northern European descent. To our knowledge, this has not been reported in other studies. Our study suggests that careful assessment of the target population prior to the implementation of forensic DNA phenotyping to case work is beneficial.

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Section: Tablementioning

confidence: 99%

Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit

Salvo

Janssen

Kirsebom

et al. 2022

Forensic Science International: Genetics

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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%

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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“…LD haplotype containing these SNPs were also significantly associated with the two categories eye colors black/green iris pigmentation. These deviations provide an indication of the association with Shapturenko et al, (2019) 9 . A study in Saudi population 10 observed the SNP rs1800407 was not polymorphic in the Saudi population with the presence of the allele G. In this study, concluded the rs1800407 indicating of eye color with the rs12913832 because of the linkage disequilibrium coefficient between alleles of these SNPs strong associated with eye color.…”

Section: Discussionmentioning

confidence: 88%

The Impact of OCA2 (rs1800407) and HERC2 (rs12913832) Gene Polymorphisms on Iris Color in a Sample of Iraqi People

Noaman,

A. Alkazaz

2021

Indian Journal of Forensic Medicine & Toxicology

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The study was directed in order to determine Single Nucleotide Polymorphisms (SNPs) (rs1800407 G>A) of OCA2 and (rs12913832 A>G) HERC2 genes and their association as a DNA marker with eye color in 60 samples of Iraqi people. Samples were collected from College of Science / University of Baghdad and also people from different areas of Baghdad, Iraq; during the two months period from September to November 2020. These SNPs determination was carried out by using quantitative real-time polymerase chain reaction (qPCR) of blood samples. The results of rs12913832 genotype showed significantly differences (p<0.05) in the green eye color group. A Survey of HERC2 gene SNP genotypes and allele frequencies in the black and green iris groups showed that there was a significant variation in the wild type (AA) and homozygous mutant (GG) genotype frequencies in (rs 12913832), while the SNP (rs1800407) of OCA2 concluded that gene may have a non-significant effect among a sample of this study comparing with green eye to black eye color.

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HERC2 (rs12913832) and OCA2 (rs1800407) genes polymorphisms in relation to iris color variation in Belarusian population

Cited by 6 publications

References 4 publications

Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit

Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit

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

The Impact of OCA2 (rs1800407) and HERC2 (rs12913832) Gene Polymorphisms on Iris Color in a Sample of Iraqi People

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