Abstract:

Objective   To explore if genetic variation in chromosome 17q22(rs22731)，ABCA4 (rs560426) and 10q25.3(rs7078160)genes contributes to non-syndromic cleft lip with or without cleft palate (NSCL/P) in Ningxia Hui and Han population. Methods   The study consisted of 415 NSCL/P patients(Han=191，Hui =224)and their parents (303 fathers and 311 mothers, including 158 complete families). They were divided into 3 groups: the cleft lip only(CLO), the cleft palate only(CPO) and both the cleft lip and palate(CLP)  groups, and we merged the CLO and CLP groups into the cleft lip with or without palate (CL/P) group.  In addition, 385 healthy  college students (Han=261，Hui =104)consisted of the control group. The single nucleotide polymorphisms(SNPs) were genotyped by TaqMan SNPs genotyping and the data were analyzed by case-control analysis, transmission disequilibrium test and family based association test. Results   ① The distribution of alleles at rs227731 on chromosome 17q22 was significantly different between CLO and control groups in the Hans (P<0.05), and significant difference was found between CL/P and control groups in the Hans (P<0.05). There were significant differences in the genotypic and allelic frequencies of CLP and CL/P groups between the two ethnics. ② The distributions of both genotypes and alleles at rs560426 in ABCA4 gene were also significantly different between CLP and control groups in the Hans (P<0.05), and significant difference was found between CL/P and control groups in the Hans (P<0.05). There were significant differences in the genotypic and allelic frequencies of CLO groups between the two ethnics. ③ No differences were found in genotypic and allelic frequencies of rs7078160 on chromosome 10q25 between the patients and their parents and the controls, and between the two ethnics. Conclusion   rs227731 and rs560426 SNPs are associated with NSCL/P in Ningxia Han population, and rs7078160 SNPs are not associated with NSCL/P in Ningxia population.

Key words: Non-syndromic cleft lip with or without cleft palate; 17q22; ABCA4; 10q25.3; Single nucleotide polymorphisms