Date of Submission
Heather Miller Coyle, Ph.D.
Eye Pigmentation, SNP
Color of eyes, Single nucleotide polymorphisms
Over the past two decades, research has increased on how different genes influence eye color pigmentation, with the focus being on brown-colored eyes, and blue-colored eyes. It has been observed through many studies that the SNP rs12913832 located at HERC2 influences OCA2, and results in blue eye pigmentation. Many studies also examine ‘intermediate’-colored eyes, i.e., green and hazel eyes and how the SNP rs12913832 located at HERC2 may influence the pigmentation observed for green and hazel eyes. In this study, the relationship SNP rs12913832 and eye color pigmentation was investigated by collecting DNA samples of donors with green or hazel eyes and performing a TaqMan Assay for SNP detection using primers for the SNP rs12913832. The eye color of each participant was photographed and compared to the Martin-Schultz eye color chart as well to better characterize the pigmentation of each donor’s eye. Through this study it was shown that while SNP rs12913832 at HERC2 can be used to determine brown pigmentation, it cannot be used independently to predict with 100% accuracy blue, green, and hazel pigmentation.
Siegel, Emily, "An Investigation of How Specific SNPs Influence Green and Hazel Eye Pigmentation" (2022). Honors Theses. 66.