【摘要】 目的:研究染色体10q25上2个单核苷酸多态性(single nucleotide polymorphisms,SNP)位点rs7078160、rs4752028与中国人群非综合征性唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)发病的相关性。方法:收集180例NSCL/P患者作为病例组,并按照表型分为单纯唇裂组、唇腭裂组、单纯腭裂组,将单纯唇裂组和单纯腭裂组合并为唇/腭裂组;选取360名健康人作为对照组。采集病例组和对照组的外周血血样并提取DNA。对上述2个SNP设计引物,PCR扩增其序列,通过二代测序进行基因型分型。利用SPSS19.0软件包中的χ2检验对病例组与对照组的基因型以及等位基因频率进行分析。结果:rs7078160的等位基因频率在唇/腭裂组与对照组中的差异最为显著(P=0.008,OR=1.500,95%CI=1.116~2.016),rs4752028位点的等位基因频率在唇/腭裂组和对照组间亦存在显著差异(P=0.028,OR=1.424,95%CI=1.041~1.948)。结论:染色体10q25区域的rs7078160和rs4752028位点与中国人群非综合征性唇腭裂的发病相关。更多还原

【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 SPSS19.0 software package. Differences in genotype and allele frequencies were analyzed between case and control groups using Pearson χ2test. 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.更多还原