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. © 2013 Macmillan Publishers Limited.
Genetics of eye colours in different rural populations on the silk road
Mezzavilla M.;
2013
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. © 2013 Macmillan Publishers Limited.File | Dimensione | Formato | |
---|---|---|---|
ejhg201341.pdf
accesso aperto
Tipologia:
Published (publisher's version)
Licenza:
Accesso gratuito
Dimensione
221.94 kB
Formato
Adobe PDF
|
221.94 kB | Adobe PDF | Visualizza/Apri |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.