Association Between GWAS SNPs And Nonsyndromic Cleft Lip With Or Without Cleft Palate In Chinese Population

PURPUSE: The purpose of our study was to confirm the causal relationship between SNPs(single nucleotide polymorphisms)identified by genome-wide association studies(GWAS)and nonsyndromic cleft lip with or without cleft palate(NSCL/P)in China.METHODS: We conducted an association study in 240 affected individuals and 480 controls.The cases were divided into cleft lip with or without palate(CL/P)and cleft palate only(CPO)subgroups according to phenotype.Genomic DNA was extracted and 12 SNPs selected from GWAS were performed next generation sequencing.Statistical analysis was performed with the SPSS 19.0 statistical software package.Differences in genotype and allele frequencies were analyzed between case and control groups using a Pearson ?2 test.RESULTS: Four reported SNPs: rs7078160,rs11696257,rs766325 and rs4791774 showed significant relevance with NSCL/P(P=0.009,0.016,0.035 and 0.038,respectively).Stratifying case group into CL/P and CPO revealed differences in statistical significance.SNP rs7078160,rs11696257,rs4791774 and rs4752028 in CL+CLP subgroup attained statistical significance(P=0.013,0.020,0.022 and 0.032,respectively).CONCLUTION: These results confirmed rs11696257,rs7078160,rs766325,rs4791774 were involved in NSCL/P development.SNPs rs11696257,rs7078160 was the first time verified in Chinese population,providing genetic information of NSCL/P mechanisms in Chinese population.