目的:探讨非综合征性唇腭裂(nonsyndromic cleft of lip with or without palate,NSCL/P)发病的危险因素,为制定相应的预防措施提供依据。方法:采用病例对照研究,以2003年9月至2009年6月在东南大学附属中大医院行唇腭裂整形手术的非综合征性唇腭裂患者为病例组(n=159);选取同期在南京市儿童医院、中大医院就诊的非唇腭裂患者为对照组(n=159)。对所有研究对象运用统一调查表进行流行病学问卷调查,对调查结果进行单因素χ2分析,再将"显著"的变量进行多因素Logistic回归分析。结果:多因素分析显示胎次、先天畸形家族史、孕早期感染、孕早期服药、母亲孕早期补充叶酸、父亲文化与非综合征性唇腭裂有关。结论:非综合征性唇腭裂是多因素综合作用的结果,对其应采取综合性的预防控制措施。
Objective:To explore the relationship between the polymorphisms in gene FGFR1,FGF10,FGF18 and the nonsyndromic cleft lip with or without cleft palate (NS CLP) in Chinese population. Methods:Genomic DNA was isolated from peripheral lymphocytes of 75 patients with NS CLP and their parents and 75 unimpaired healthy children. The polymorphisms in FGFR1 gene rs13317,p.E467K,p.M369I and p.S393S,FGF10 gene rs1448037 and FGF18 gene rs4043716 were detected by applying three-dimensional (3-D) polyacrylamide gel microarray technology. The data were performed using statistical analysis:the genotype frequenc+y and allele frequency between patients with NSCL/P and control subjects were performed. Haplotype relative risk (HRR),family based association test (FBAT),and transmission disequilibrium test (TDT) in nuclear family were performed. Results:There were no polymorphism in FGFR1 gene p.E467K,p.M369I and p.S393S site,the corresponding base was all G. The polymorphisms of rs13317 and rs1448037 were detected and their genotype frequency and allele frequency showed no significant difference between 75 patients with NSCL/P and 75 normal children. TDT,HRR and FBAT were also no significant differences. The genotype frequency of gene FGF18 rs4043716 showed significant difference,but allele frequency were no significant difference. TDT,HRR and FBAT were also no significant difference. Conclusion:Our studies suggest an association between gene FGF18 rs4043716 and the NS CLP in Chinese population,and no association among gene FGFR1 rs13317,p.E467K,p.M369I,p.S393S and gene FGF10 rs1448037.
