摘要目的 研究EPHA3基因多态性、孕早期叶酸的摄入及其交互作用与非综合征性唇腭裂发生的关系.方法 收集首都医科大学附属北京口腔医院195例患者作为病例组,男98例,女97例,年龄3个月至26岁;另收集170例正常样本为对照但,通过SNaPshot技术对候选位点rs7650466基因分型,并结合孕早期叶酸摄入的调查进行分析.结果 rs7650466 T等位基因与非综合征性唇腭裂发病关联程度较高(OR=0.2472,95％ CI=0.1567-0.3899,P=1.851× 10-9),并且T等位基因有保护.叶酸摄入及其和EPHA3基因的交互作用与非综合征性唇腭裂发病相关联(P＜0.05).结论 EPHA3基因、叶酸摄入及其交互作用与非综合征性唇腭裂发病相关联.

abstractsObjective To study the mutual effect of EPHA3 gene polymorphism,folic acid intake in early pregnancy,and the occurrence of non-syndromic cleft lip with or without cleft palate,so as to provide the oretical basis for a etiological study on non-syndromic cleft lip with or without cleft palate.Methods A total of 195 patients and 170 controls were included.The candidate site rs7650466 was genotyped by Snapshot technique.The correlation with folic acid intake in early pregnancy was analyzed.Result The rs7650466 T allele was highly associated with the pathogenesis of non-syndromic cleft lip with or without cleft palate (OR =0.2472,95％ CI =0.1567-0.3899,P =1.851 × 10-9).The T allele had protective effects.Folic acid intake in early pregnancy,and its interaction with EPHA3 gene,were associated with the pathogenesis of this disease(P＜0.05).Conclusions EPHA3 gene,folic acid intake during the first trimester,and theinteractionsare associated with the pathogenesis of non-syndromic cleft lip with or without cleft palate.