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

Abstract：

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.

journal_name

Croat Med J

journal_title

Croatian medical journal

authors

Kastelic V,Pośpiech E,Draus-Barini J,Branicki W,Drobnič K

doi

10.3325/cmj.2013.54.381

subject

Has Abstract

pub_date

2013-08-01 00:00:00

pages

381-6

issue

4

eissn

0353-9504

issn

1332-8166

journal_volume

54

pub_type

杂志文章

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