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Multilocus OCA2 genotypes specify human iris colors.

Tony Frudakis1, Timothy Terravainen, Matthew Thomas

  • 1DNAPrint Genomics, Inc, 1621 W. University Pkwy, Sarasota, FL 34243, USA. tonynfrudakis@dnaprint.com

Human Genetics
|July 10, 2007
PubMed
Summary
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Researchers identified 27 new single nucleotide polymorphisms (SNPs) in the OCA2 gene strongly associated with human iris color. A modest number of these OCA2 SNPs can accurately predict iris melanin content from DNA.

Area of Science:

  • Genetics
  • Human Pigmentation
  • Ophthalmology

Background:

  • Human iris color is a complex trait influenced by melanin.
  • The OCA2 gene is known to be a major determinant of iris pigmentation variability.
  • Previous studies identified limited OCA2 polymorphisms associated with iris color.

Purpose of the Study:

  • To conduct a comprehensive survey of the OCA2 locus for novel iris color-associated polymorphisms.
  • To develop a predictive model for iris melanin content using OCA2 genotypes.
  • To quantify iris melanin content using an in-silico iris color score (C).

Main Methods:

  • Genotyping of 271 single nucleotide polymorphisms (SNPs) in the OCA2 gene in 1,317 subjects.
  • Statistical analysis to identify SNPs associated with the iris color score (C).

Related Experiment Videos

  • Haplotype analysis and selection of predictive SNP sets (p-Selected SNP sets).

    • Main Results:

    • Confirmed six known and identified 27 novel OCA2 SNPs associated with iris color (P < 0.001).
    • Developed p-Selected SNP sets that achieved 96.3% concordance in predicting iris color in an independent sample.
    • Demonstrated superior predictive accuracy compared to using all identified SNPs or hap-tags.

    Conclusions:

    • OCA2 is confirmed as the primary gene influencing human iris color.
    • A targeted set of OCA2 SNPs can accurately predict iris melanin content.
    • This genotype-based prediction system offers a novel approach for assessing iris pigmentation.