Further Evidence of GWAS Signals in Non-Syndromic Orofacial Clefts fromWestern Han Chinese

Background Non-syndromic orofacial clefts (NSOCs) are the major human congenital defects with a complex etiology. Several candidate genes and environmental factors, and their interactions were assumed for the susceptibility to NSOCs. Previous GWAS have identified numerous susceptible loci from different populations. However, few loci have been replicated among Western Han Chinese yet. This study aimed to validate this findings in NSOCs from Western Han Chinese population. Methods We selected two SNPs (rs4147811 and rs481931) on 1p22 and recruited 440 case-parent trios with NSOCs for this study. The SNPs were genotyped by using SNPscan method. To evaluate the association, we performed transmission disequilibrium test (TDT), parent-of-origin effect and gene-gene interaction analysis. Results Rs481931 G allele (Z=2.05, P=0.016) and G/G homozygotes (Z=2.62, P=0.009) were over-transmitted for NSCL/P. Rs4147811 C allele (Z=2.16, P=0.030) and C/C homozygotes (Z=2.29, P=0.020) were over-transmitted for NSCL/P. Rs481931 G allele was also paternal over-transmitted for NSCL/P (P=0.030) and maternal over-transmitted for NSCPO (P=0.036). Conclusions Our results confirmed the previous GWAS findings of these two SNPs in the etiology of NSOCs among Western Han Chinese.