邯郸地区非综合征唇腭裂患儿发生率及其与环境因素和IRF6基因多态性的相关性研究

目的分析邯郸地区非综合征唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)患儿发生率及其与环境因素和IRF6基因多态性的相关性。方法对2016年3月-2018年4月产科新生儿22460例临床资料进行回顾性分析,统计唇腭裂发生情况。并采用单因素分析和多因素Logistic回归分析影响新生儿发生唇腭裂的影响因素。结果①在22460例新生儿中,NSCL/P有48例,占比2.13‰,其中,单纯性唇裂15例,占比31.25%,腭裂12例,占比25.00%,唇腭裂21例,占比33.33%。;②所有患儿及其父母与健康组基因型频率分布经检验均符合HW平衡,NSCL/P组中单纯性唇裂与唇腭裂rs642961位点的AA基因频率明显高于健康组,数据间差异具有统计学意义(P<0.05);③父亲吸烟、母亲吸烟、母亲被动吸烟、母亲孕期具有疾病史与服药史、未补充维生素与叶酸等环境因素中新生儿NSCL/P的发病率明显增高(P<0.05);④母亲吸烟、母亲被动吸烟、母亲孕期具有疾病史与服药史、未补充维生素与叶酸等环境因素是影响新生儿发生NSCL/P的独立危险因素(P<0.05)。结论 IRF6基因rs642961位点的变异可诱发NSCL/P的发生,同时,母亲吸烟与被动吸烟、母亲孕期具有疾病史与服药史、未补充维生素与叶酸等环境因素可增加NSCL/P发病的风险。

Evaluation on the incidence of non-syndromic cleft lip and palate in handan area and its correlation with environmental factors and IRF6 gene polymorphism

Objective To analyze the incidence of non-consenomic cleft lip with or without cleft palate(NSCL/P) in handan area and its correlation with environmental factors and IRF6 gene polymorphisms. Methods Clinical data of 22460 obstetrical neonates from March 2016 to April 2018 in Handan area were collected for retrospective analysis, and the occurrence of cleft lip and palate in all neonates was statistically analyzed. Univariate and multivariate Logistic regression analysis were used to analyze the influencing factors of cleft lip and palate in neonates. Results ①Among the 22,460 neonates, there were 48 cases of NSCL/P, accounting for 2.13‰, among which,there were 15 cases of simple cleft lip, accounting for 31.25%, 12 cases of cleft palate, accounting for 25.00%, and 21 cases of cleft palate, accounting for 33.33%. ②The genotype frequency distribution of all children, their parents and the healthy group was consistent with HW balance through examination. The AA gene frequency of rs642961 of simple cleft lip and cleft palate in the NSCL/P group was significantly higher than that of the healthy group, and the difference between the data was statistically significant(P<0.05). ③The incidence of neonatal NSCL/P was significantly increased in environmental factors such as father smoking, mother smoking, mother passive smoking, mother pregnancy with a history of disease and medication, and unsupplemented vitamins and folic acid(P<0.05). ④Environmental factors such as mother smoking, mother passive smoking, mother’s history of disease and medication in pregnancy, and unsupplemented vitamins and folic acid were independent risk factors for NSCL/P in neonates(P<0.05). Conclusion Variation of the IRF6 rs642961 site can induce the occurrence of NSCL/P. Meanwhile, environmental factors such as mother’s smoking and passive smoking, mother’s history of disease and medication in pregnancy, and the absence of vitamin and folic acid can increase the risk of NSCL/P.