Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations

Abstract

Abstract Childhood to adolescence is an accelerated growth period, and genetic features can influence differences of individual growth patterns. In this study, we examined the genetic basis of early age facial growth (EAFG) patterns. Facial shape phenotypes were defined using facial landmark distances, identifying five growth patterns: continued-decrease, decrease-to-increase, constant, increase-to-decrease, and continued-increase. We conducted genome-wide association studies (GWAS) for 10 horizontal and 11 vertical phenotypes. The most significant association for horizontal phenotypes was rs610831 (TRIM29; β = 0.92, p-value = 1.9 × 10−9) and for vertical phenotypes was rs6898746 (ZSWIM6; β = 0.1103, p-value = 2.5 × 10−8). It is highly correlated with genes already reported for facial growth. This study is the first to classify and characterize facial growth patterns and related genetic polymorphisms.