Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage

Walsh, Susan; Chaitanya, Lakshmi; Clarisse, Lindy; Wirken, Laura; Draus-Barini, Jolanta; Kovatsi, Leda; Maeda, Hitoshi; Ishikawa, Takaki; Sijen, Titia; Knijff, Peter de; Branicki, Wojciech; Liu, Fan; Kayser, Manfred

doi:10.1016/j.fsigen.2013.12.006

Cited by 172 publications

(190 citation statements)

References 38 publications

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“…The studies have confirmed that OCA2 gene, as well as other three genes, HERC2, SLC24A4, and SLC24A5, respectively, were discovered to have significant melanin effects in determining human iris colors by regulating melanin production and expression in the eye [1,3,8,9,12,16]. Moreover, HERC2 gene was discovered to be strongly associated with blue eye color; further analysis has presented that rs12913832 in HERC2 was responsible for determining blue and brown eye color variation [3,9,[16][17][18], and also has the highest discrimination power for predicting either light or dark iris color among various population groups [3,12].…”

Section: Introductionmentioning

confidence: 77%

“…However, despite the prominent progress, any researcher in this related field would agree that there still is much work to be done; additional candidate markers must be discovered and further validation procedures are needed for constructing an accurate population specific prediction system. For instance, because the major population groups for the development and validation process of the majority of markers established for current prediction models are based on European populations, there have been reports that Western population groups tend to show better results compared to other population groups [10,[16][17][18]. Moreover, despite the growing interest and importance for skin color prediction tool in FDP area, there still lacks the consensus methods for categorizing and recording skin color phenotype [21].…”

Section: Limitation: More Work Needs To Be Donementioning

confidence: 99%

“…In fact, the products utilizing these specific markers for predicting eye colors are already available in the market [4,[16][17][18] and ready for practical uses. The large scale of association studies with over 9,000 samples have found that just six single nucleotide polymorphisms (SNPs) can lead to high categorical prediction values for eye colors [2,17,19].…”

Section: Introductionmentioning

confidence: 99%

“…The large scale of association studies with over 9,000 samples have found that just six single nucleotide polymorphisms (SNPs) can lead to high categorical prediction values for eye colors [2,17,19]. Recently, using this progress, Walsh et al [16][17][18] successfully developed IrisPlex and HIrisPlex model that can predict human eye and hair color with an accuracy rate of over 90% for certain iris and hair colors in European population [3,[16][17][18].…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Forensic DNA Phenotyping: A Review in Korean Perspective

et al. 2017

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Section: Introductionmentioning

confidence: 77%

Section: Limitation: More Work Needs To Be Donementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Forensic DNA Phenotyping: A Review in Korean Perspective

et al. 2017

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“…There are at least ten published studies presenting methods to explore the predictive values of combinations of SNP alleles of pigmentation phenotypes (skin, eye and hair colour) and presence/absence of freckles [33][34][35][36][37][38][39][40][41][42], two of which [34,40] have already been validated [43][44][45]. Additional research is under development regarding these and other phenotypes, such as estimation of age [46][47][48][49], height [50,51], hair shape [52][53][54], facial features [55,56], baldness [54, 57,58], and adult stuttering [59,60].…”

Section: Pims For Prediction Of Normal Human Traitsmentioning

confidence: 99%

Predicting Physical Features and Diseases by DNA Analysis: Current Advances and Future Challenges

Cerqueira¹,

Ramallo²,

Hünemeier³

et al. 2016

J Forensic Res

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The 'omics' era and its concomitant technological advances have brought great insight into genetics. One of the most promising fields within human genetics is the prediction of physical traits from analysis of genetic material. Besides the predictive potential of DNA, the traceability of pathogenic agents in the human body through molecular analysis is also a field to be further exploited. In this review, we aim to discuss specific aspects of phenotypic prediction by analysing DNA, with special emphasis on normal variation, and the application of a technology known as 'Forensic DNA Phenotyping' (FDP). We also suggest the term 'Phenotype Informative Markers' (PIMs) to designate any molecular markers responsible for normal or pathological human phenotypic variation. In addition, we raise some recommendations related to forensic genetics, the molecular diagnosis of human diseases, and the traceability of pathogens in the human body, giving special emphasis to the need for validation of these tests with strict protocols. Some relevant concerns about privacy, ethics, and legality of such predictions have also been discussed. Finally, we look at perspectives on the use of epigenetic tools, and quote some examples of what has been done in this specific field.

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Prediction of Human Pigmentation Traits from DNA Polymorphisms

Branicki

Kayser

2015

Encyclopedia of Life Sciences

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Driven by recent evolutionary history, pigmentation traits significantly contribute to the most obvious parts of the overall human phenotypic diversity with skin colour varying between worldwide individuals, while eye and hair colour differences only exist in individuals of European (and neighbouring region) descent. Genetic association studies have discovered various DNA variants that together explain large proportion of phenotypic variance in eye, hair and skin colouration. Besides providing leads in the molecular understanding of human pigmentation, multiple associated DNA variants have also been used for prediction modelling of pigmentation traits. The success of DNA‐based pigmentation prediction laid the foundation for a new subfield of forensic genetics known as Forensic DNA Phenotyping, which aims to help finding unknown perpetrators. Pigmentation DNA prediction is further relevant in anthropological research from old and ancient human remains for reconstructing colour phenotypes of deceased persons including those of historical importance. Key Concepts Driven by recent evolutionary history, differences in pigmentation significantly contribute to the phenotypic diversity in humans. Eye, hair and skin colour reflect complex traits with multiple genes and environmental factors determining phenotypic variation distributed differently around the world. Gene mapping studies identified a number of pigmentation genes that typically but not necessarily determine all three pigmentation traits in humans. Multiple pigmentation‐associated DNA variants have proven useful to predict all three human pigmentation traits with varying accuracies. Several DNA test systems are available for accurate prediction of blue and brown eyes, while for other eye colours further research is needed. Available DNA test systems for hair colour provide accurate prediction of red and (albeit less so) of black hair, while the DNA prediction of blond and brown hair is troubled by age‐dependent hair colour changes in some (but not all) individuals not yet understood on the molecular level. Of the three human pigmentation traits, DNA prediction of skin colour is least advanced, requiring considerable further research. Current DNA prediction on the level of categorical eye, hair and skin colour shall be improved towards more detailed colour phenotypes, if the necessary DNA predictors become available via dedicated future research. Forensic science is a major recipient of pigmentation predictive DNA tests, where they are used to trace unknown perpetrators unidentifiable via conventional DNA profiling. Pigmentation DNA prediction is also relevant in anthropological and human evolutionary research particularly from old and ancient human remains.

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Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage

Cited by 172 publications

References 38 publications

Forensic DNA Phenotyping: A Review in Korean Perspective

Forensic DNA Phenotyping: A Review in Korean Perspective

Predicting Physical Features and Diseases by DNA Analysis: Current Advances and Future Challenges

Prediction of Human Pigmentation Traits from DNA Polymorphisms

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