Association of chromosome 10q25 polymorphisms with non-syndromic cleft lip with or without cleft palate in Chinese population

Abstract

Abstract: PURPOSE: To investigate the causal relationship between single nucleotide polymorphisms (SNPs) rs7078160, rs4752028 on chromosome 10q25 identified by genome-wide association studies (GWAS) in non-syndromic cleft lip with or without cleft palate (NSCL/P) among Chinese population. METHODS: A total of 180 individuals were included as case group and 360 healthy subjects were enrolled as controls. The case group was divided into 4 subgroups: cleft lip only(CL), cleft lip and palate (CLP), cleft palate only (CPO), and cleft lip with or without cleft palate (CL/P) merged by CL and CLP. The peripheral blood of NSCL/P cases and control samples were collected and DNA was extracted. Two SNPs were performed for targeted sequencing and genotyped for a case-control association analysis. Statistical analysis was performed with SPSS 19.0 software package. Differences in genotype and allele frequencies were analyzed between case and control groups using Pearson χ² test. RESULTS: The allele frequency distribution of rs7078160 was significantly different between CL/P subgroup and control group (P=0.008, OR=1.500, 95%CI=1.116-2.016). The difference of allele frequency distribution between CL/P subgroup and control group for rs4752028 also had significant difference (P=0.028, OR=1.424, 95%CI=1.041-1.948). CONCLUSIONS: SNP rs7078160 and rs4752028 are associated with NSCL/P in Chinese population.

Key words: Nonsyndromic cleft lip with or without cleft palate, NSCL/P, 10q25, Single nucleotide polymorphisms

CLC Number:

R783.5

PENG Li, NIU Zhen-min, HUANG Wei, CHEN Zhen-qi. Association of chromosome 10q25 polymorphisms with non-syndromic cleft lip with or without cleft palate in Chinese population[J]. China Journal of Oral and Maxillofacial Surgery, 2016, 14(4): 324-327.

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