Eye Color Frequency and IrisPlex Validation in Pakhtun Population Living in Shangla Valley, Pakistan.

DNA Intelligence is relatively new concept which relies on providing phenotypic information about unknown individuals when traditional DNA profiling is not informative. The system aids in forensic investigation by probabilistic prediction of eye, hair, skin colors as well as other phenotypic features. The Irisplex system contains a very sensitive multiplex genetic typing test that allows users to predict blue, brown and intermediate human eye color from DNA samples. To check the validity of IrisPlex system in the local Pakhtun population living in Shangla Valley of Pakistan, the current study was carried out. DNA samples as well as photographs were taken from total of 226 individuals. Exclusion and inclusion criteria were set for samples collection. The analysis showed that brown eye color individuals were greater in number than blue and intermediate eyes color individuals. Moreover, Irisplex system predicted 100% blue and brown eye color while issue in predicting in intermediate eye color. The data of the current study indicated the six Irisplex SNPs the rs16891982 and rs1800407 SNP are significant association with eye color. Conclusion: This study showed that the most prevalent human color traits among Pakhtun population of Shangla was brown eye color and the IrisPlex system accurately predicted blue and brown eye color as such as an actual eye color of the individual while intermediate was misclassified into brown eye color, so online tool of IrisPlex system needed more SNPs inclusion for the prediction of accurate intermediate eye color prediction. Therefore, the Irisplex system represents a useful tool for immediate application in accredited forensic laboratories, predicting blue and brown human eye color from DNA samples, hence, may be a useful tool in forensic investigation. [ABSTRACT FROM AUTHOR]