title: Genetics of eye colours in different rural populations on the Silk Road.
abstract: 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.
authors.affiliation: Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.
authors.forename: Sheila
authors.initials: S
authors.lastname: Ulivi
authors.forename: Massimo
authors.initials: M
authors.lastname: Mezzavilla
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001208:Asia; D002648:Child; D005060:Europe; D005127:Eye Color / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008875:Middle Aged; D058011:Multifactor Dimensionality Reduction; D012044:Regression Analysis; D012424:Rural Population; D055815:Young Adult