Pietroni Carlotta, Andersen Jeppe D, Johansen Peter, Andersen Mikkel M, Harder Stine, Paulsen Rasmus, Børsting Claus, Morling Niels
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
Forensic Sci Int Genet. 2014 Jul;11:1-6. doi: 10.1016/j.fsigen.2014.02.002. Epub 2014 Feb 13.
In two recent studies of Spanish individuals, gender was suggested as a factor that contributes to human eye colour variation. However, gender did not improve the predictive accuracy on blue, intermediate and brown eye colours when gender was included in the IrisPlex model. In this study, we investigate the role of gender as a factor that contributes to eye colour variation and suggest that the gender effect on eye colour is population specific. A total of 230 Italian individuals were typed for the six IrisPlex SNPs (rs12913832, rs1800407, rs12896399, rs1393350, rs16891982 and rs12203592). A quantitative eye colour score (Pixel Index of the Eye: PIE-score) was calculated based on digital eye images using the custom made DIAT software. The results were compared with those of Danish and Swedish population samples. As expected, we found HERC2 rs12913832 as the main predictor of human eye colour independently of ancestry. Furthermore, we found gender to be significantly associated with quantitative eye colour measurements in the Italian population sample. We found that the association was statistically significant only among Italian individuals typed as heterozygote GA for HERC2 rs12913832. Interestingly, we did not observe the same association in the Danish and Swedish population. This indicated that the gender effect on eye colour is population specific. We estimated the effect of gender on quantitative eye colour in the Italian population sample to be 4.9%. Among gender and the IrisPlex SNPs, gender ranked as the second most important predictor of human eye colour variation in Italians after HERC2 rs12913832. We, furthermore, tested the five lower ranked IrisPlex predictors, and evaluated all possible 3(6) (729) genotype combinations of the IrisPlex assay and their corresponding predictive values using the IrisPlex prediction model [4]. The results suggested that maximum three (rs12913832, rs1800407, rs16891982) of the six IrisPlex SNPs are useful in practical forensic genetic casework.
在最近两项针对西班牙人的研究中，性别被认为是导致人类眼睛颜色差异的一个因素。然而，当将性别纳入IrisPlex模型时，它并未提高对蓝色、中间色和棕色眼睛颜色的预测准确性。在本研究中，我们调查了性别作为导致眼睛颜色差异的一个因素所起的作用，并表明性别对眼睛颜色的影响因人群而异。总共对230名意大利人进行了6个IrisPlex单核苷酸多态性（rs12913832、rs1800407、rs12896399、rs1393350、rs16891982和rs12203592）的分型。使用定制的DIAT软件，根据数码眼睛图像计算出定量的眼睛颜色评分（眼睛像素指数：PIE评分）。将结果与丹麦和瑞典人群样本的结果进行了比较。正如预期的那样，我们发现HERC2 rs12913832是人类眼睛颜色的主要预测因子，与祖先无关。此外，我们发现性别与意大利人群样本中的定量眼睛颜色测量值显著相关。我们发现，这种关联仅在HERC2 rs12913832基因分型为杂合子GA的意大利个体中具有统计学意义。有趣的是，我们在丹麦和瑞典人群中未观察到相同的关联。这表明性别对眼睛颜色的影响因人群而异。我们估计性别对意大利人群样本中定量眼睛颜色的影响为4.9%。在性别和IrisPlex单核苷酸多态性中，性别在意大利人中是仅次于HERC2 rs12913832的人类眼睛颜色差异的第二大重要预测因子。此外，我们测试了排名较低的5个IrisPlex预测因子，并使用IrisPlex预测模型评估了IrisPlex检测的所有可能的3(6)（729）种基因型组合及其相应的预测值[4]。结果表明，6个IrisPlex单核苷酸多态性中最多有3个（rs12913832、rs1800407、rs16891982）在实际法医遗传学案件工作中有用。
