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Human Eye Colour and HERC2, OCA2 and MATP

NCJ Number
232674
Journal
Forensic Science International: Genetics Volume: 4 Issue: 5 Dated: October 2010 Pages: 323-328
Author(s)
Jonas Mengel-From; Claus Borsting; Juan J. Sanchez; Hans Eiberg; Niels Morling
Date Published
October 2010
Length
6 pages
Annotation
This study investigated the effectiveness of using genetic markers to determine eye color.
Abstract
Prediction of human eye color by forensic genetic methods is of great value in certain crime investigations. Strong associations between blue/brown eye color and the SNP loci rs1129038 and rs12913832 in the HERC2 gene were recently described. Weaker associations between eye color and other genetic markers also exist. In 395 randomly selected Danes, we investigated the predictive values of various combinations of SNP alleles in the HERC2, OCA2 and MATP (SLC45A2) genes and compared the results to the eye colors as they were described by the individuals themselves. The highest predictive value of typing either the HERC2 SNPs rs1129038 and/or rs12913832 that are in strong linkage disequilibrium was observed when eye color was divided into two groups, (1) blue, grey and green (light) and (2) brown and hazel (dark). Sequence variations in rs11636232 and rs7170852 in HERC2, rs1800407 in OCA2 and rs16891982 in MATP showed additional association with eye colors in addition to the effect of HERC2 rs1129038. Diplotype analysis of three sequence variations in HERC2 and one sequence variation in OCA2 showed the best discrimination between light and dark eye colors with a likelihood ratio of 29.3. Tables and references (Published Abstract)