Genetics of eye colours in different rural populations on the silk road

Sheila Ulivi, Massimo Mezzavilla, Paolo Gasparini

Research output: Contribution to journalArticlepeer-review


Eye colour is a highly transmissible and discernible trait in humans. A genome-wide association scan for variants associated to eye pigmentation was carried out on a large group of individuals coming from the Silk Road. Significant associations were detected not only with HERC2 (P-value=4.99 × 10-37) and OCA2 (P-value=4.51 × 10-9) genes but also with CTNNA2 gene (P-value=4.06 × 10-8). Moreover, the multifactor dimensionality reduction analysis clearly showed the effect of HERC2 haplotype over OCA2 mostly associated with SNP, thus enabling a highly accurate eye-colour prediction. Finally, the regression tree analysis showed that individuals carrying a given combination of haplotypes have a significant probability to show a blue or green/grey iris colour as compared with brown, with a gradient from west to east.

Original languageEnglish
Pages (from-to)1320-1323
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number11
Publication statusPublished - Nov 2013


  • eye colours
  • GWAS
  • silk road

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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