Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2013.54.248
Improved eye- and skin-color prediction based on 8 SNPs
Katie L. Hart
; Formerly at the Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, New York, NY, USA
Shey L. Kimura
; Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, New York, NY, USA
Vladimir Mushailov
; Formerly at the Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, New York, NY, USA
Zoran M. Budimlija
; Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, New York, NY, USA
Mechthild Prinz
; Formerly at the Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, New York, NY, USA
Elisa Wurmbach
; Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, New York, NY, USA
Sažetak
Aim To improve the 7-plex system to predict eye and skin
color by increasing precision and detailed phenotypic descriptions.
Methods Analysis of an eighth single nucleotide polymorphism
(SNP), rs12896399 (SLC24A4), showed a statistically
significant association with human eye color (P = 0.007)
but a rather poor strength of agreement (κ = 0.063). This
SNP was added to the 7-plex system (rs12913832 at HERC2,
rs1545397 at OCA2, rs16891982 at SLC45A2, rs1426654
at SLC24A5, rs885479 at MC1R, rs6119471 at ASIP, and
rs12203592 at IRF4). Further, the instruction guidelines on
the interpretation of genotypes were changed to create
a new 8-plex system. This was based on the analysis of an
803-sample training set of various populations. The newly
developed 8-plex system can predict the eye colors brown,
green, and blue, and skin colors light, not dark, and not
light. It is superior to the 7-plex system with its additional
ability to predict blue eye and light skin color.
Results The 8-plex system was tested on an additional
212 samples, the test set. Analysis showed that the number
of positive descriptions for eye colors as being brown,
green, or blue increased significantly (P = 6.98e-15, z-score:
-7.786). The error rate for eye-color prediction was low, at
approximately 5%, while the skin color prediction showed
no error in the test set (1% in training set).
Conclusions We can conclude that the new 8-plex system
for the prediction of eye and skin color substantially
enhances its former version.
Received
Ključne riječi
Hrčak ID:
104766
URI
Datum izdavanja:
15.6.2013.
Posjeta: 1.762 *