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https://doi.org/10.3325/cmj.2013.54.381

Prediction of eye color in the Slovenian population using the IrisPlex SNPs

Vanja Kastelic ; National Forensic Laboratory General Police Directorate, Police, Ministry of the Interior, Ljubljana, Slovenia
Ewelina Pośpiech ; Department of Genetics and Evolution, Institute of Zoology, Faculty of Biology and Earth, Kraków, Poland
Jolanta Draus-Barini ; Institute of Forensic Research, Section of Forensic Genetics, Kraków, Poland
Wojciech Branicki ; Department of Genetics and Evolution, Institute of Zoology, Faculty of Biology and Earth, Kraków, Poland
Katja Drobnič ; National Forensic Laboratory General Police Directorate, Police, Ministry of the Interior, Ljubljana, Slovenia


Puni tekst: engleski pdf 223 Kb

str. 381-386

preuzimanja: 1.334

citiraj


Sažetak

Aim To evaluate the accuracy of eye color prediction based
on six IrisPlex single nucleotide polymorphisms (SNP) in a
Slovenian population sample.
Methods Six IrisPlex predictor SNPs (HERC2 – rs12913832,
OCA2 – rs1800407, SLC45A2 – rs16891982 and TYR –
rs1393350, SLC24A4 – rs12896399, and IRF4 – rs12203592)
of 105 individuals were analyzed using single base extension
approach and SNaPshot chemistry. The IrisPlex multinomial
regression prediction model was used to infer
eye color probabilities. The accuracy of the IrisPlex was
assessed through the calculation of sensitivity, specificity,
positive predictive value (PPV), negative predictive value
(NPV), and the area under the receiver characteristic operating
curves (AUC).
Results Blue eye color was observed in 44.7%, brown in
29.6%, and intermediate in 25.7% participants. Prediction
accuracy expressed by the AUC was 0.966 for blue, 0.913
for brown, and 0.796 for intermediate eye color. Sensitivity
was 93.6% for blue, 58.1% for brown, and 0% for intermediate
eye color. Specificity was 93.1% for blue, 89.2%
for brown, and 100% for intermediate eye color. PPV was
91.7% for blue and 69.2% for brown color. NPV was 94.7%
for blue and 83.5% for brown eye color. These values indicate
prediction accuracy comparable to that established
in other studies.
Conclusion Blue and brown eye color can be reliably predicted
from DNA samples using only six polymorphisms,
while intermediate eye color defies prediction, indicating
that more research is needed to genetically predict the
whole variation of eye color in humans

Ključne riječi

Hrčak ID:

108678

URI

https://hrcak.srce.hr/108678

Datum izdavanja:

15.8.2013.

Posjeta: 1.783 *