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Beyond its interest as a biologic process, the determination of eye color is important because it (with skin and hair color) modulates the individual risk for development of skin cancer in members of the white population. Investigators in Australia recently identified a genetic basis of eye color. Polymorphisms in the oculocutaneous albinism 2 (OCA2) gene, which encodes for the P-protein, occur with varying frequency in different populations and are reportedly associated with eye color.
In this study, 58 single-nucleotide polymorphisms (SNPs) in OCA2 were typed in a cohort of 3,839 adolescent twins in Queensland, their siblings, and their parents. Eye color was classified as blue (cases) and nonblue (controls). Several SNPs in the first intr…