Abstract: Objective To access the effect of GCH1 gene polymorphism on non-syndromic cleft lip in different ethnic groups and regions, and study the sensitivity association between GCH1 gene and NSCL/P in Heilongjiang. Methods The study group of GCH1 gene consisted of the blood samples of 314 controls and 280 NSCL/P cases. Genotyping of the 3 SNPs (rs17128050，rs8004018, rs17128077) were performed by using SNaP shot minisequencing technique. The alleles and genotype frequency in all samples were analyzed. And the Chi-square test was used. All of statistical analysis was performed using SAS v9.1.3 statistical software package (SAS Institute, Inc.). Two-tailed P-values less than 0.05 were considered significant. Results There were significant differences in GCH1 rs17128050 and GCH1 rs8004018 compared with control subjects (P=0.04 and P=0.02, respectively), and in group CLP there were significant differences in GCH1 rs17128050 and GCH1 rs8004018 compared with controls (P=0.03 and P=0.02, respectively). Conclusion This study proves that GCH1 gene single nucleotide polymorphism is significantly associated with NSCL/P in Heilongjiang population.

Key words: Nonsyndromic cleft lip with or without palate, GCH1, Polymorphisms, predisposing genes.