Ocular phenotype related SNP analysis in Southern Han Chinese population from Guangdong province

Abstract

Ocular phenotype is recognizable among Asians, including eyelid fold, fissure inclination, and canthal index. Here we screened 27 facial phenotype-associated SNPs and reported a preliminary study in 246 Chinese individuals of Han origin in Guangdong province. Results showed that rs17760296 could explain 6.2% of the eyelid fold variation and double eyelids were more likely to appear when one’s genotype was TT. With respect to the canthal index, rs4791774 and rs642961 were significantly associated with it. However, no individual SNP was associated with fissure inclination. We further constructed two models to predict eyelid fold and canthal index and evaluated them with receiver operating characteristic (ROC) curves and support vector machine (SVM) regression, respectively. The models showed a moderate-to-high predictive capacity (AUC = 0.75, sensitivity = 76%, and specificity = 72%) for the eyelid fold while a mild performance (R2 = 0.1074, MSE = 0.0005, P-value = 0.024) for the canthal index. In conclusion, our study indicates that rs17760296 could be selected into the facial phenotype prediction system for the Southern Han Chinese population. More SNPs are encouraged to improve the prediction accuracy of the canthal index besides rs4791774 and rs642961.