Abstract

Genetic risk score for nonsyndromic cleft lip with or without cleft palate for a Chilean population: It has been widely accepted that nonsyndromic cleft lip with or without cleft palate (NSCLP) depends on the altered function of several genes during craniofacial development. The construction of genetic risk score (GRS) have allowed to estimate the combined effect of risk alleles from genes interacting in different molecular pathways in order to improve an estimation of the individual's susceptibility to a complex disease. The aim of our study was to construct a GRS considering markers showing previous allele/haplotype association with NSCLP in Chile. Considering 10 risk markers from IRF6, MSX1, BMP4 and TGFB3 genes, we estimate a GRS for each of 152 NSCLP cases and 164 controls. GRS showed no significant results when comparing cases and controls for these markers. These results could be explained by a possible indirect relationship of these genes between them in NSCLP which GRS is not capable of detecting and/or the modest number of risk alleles considered herein.