• In a large-scale, multi-ethnic study of 2,586 individuals from Korean, Asian, and Caucasian families, we identified a significant association between PVRL1 gene variants and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P) using transmission disequilibrium test and parent-of-origin effect analysis. Here, NECTIN1 is linked to cleft lip.