骨形成蛋白4基因与NOG基因的交互作用与非综合征性唇腭裂的关系

Interaction between bone morphogenetic protein 4 gene and NOG gene and the relationship with non-syndromic cleft lip and palate

目的:探讨骨形成蛋白4基因538T/C(BMP4 538T/C)变异与NOG基因615G/C(NOG 615G/C)变异之间交互作用在非综合征性唇腭裂(nsCL/P)发生中的意义。方法:从两家综合性医院中选择200名nsCL/P患者和200名对照,两组在年龄、性别、家庭社会经济状况方面相匹配。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测BMP4538T/C、NOG 615G/C的多态性;运用相加模型分析BMP4 538T/C与NOG 615G/C变异之间的交互作用。结果:用非条件Logis-tic回归模型调整父母亲怀孕时的年龄和文化程度后,BMP4 538T/C与NOG 615G/C变异之间对nsCL/P患病具有正交互作用,归因交互效应2.05,归因交互效应百分比46.28%,纯因子间归因交互效应百分比59.77%,交互效应指数2.49。结论:BMP4538T/C与NOG 615G/C变异之间交互作用在该研究人群nsCL/P患病中具有重要意义。

Objective： To explore the significance of interaction between bone morphogenetic protein 4 （BMP4） 538T/C gene mutation and NOG 615G/C gene mutation in the occurrence of non-syndromic cleft lip and palate （nsCL/P） . Methods： A total of 200 patients with nsCL/P and 200 normal persons （control group） were selected from two general hospitals. The patients in the two groups were matched in terms of age, gender, familial factor, social factor, and economic factor. PCR - RFLP was used to detect the polymorphisms of BMP4 538T/C and NOG 615G/C ; additive model was applied to analyze the interaction of BMP4 538T/C mutation and NOG 615G/C mutation. Results： After adjusting ages and educational levels of parents when they got pregnancy by unconditional logistic regression model, there was positive interaction between BMP4 538T/C mutation and NOG 615G/C mutation in the patients with nsCL/P. The attributable interaction effect was 2.05, the percent of attributable interaction effect was 46.28% , the percent of attributable interaction effect between pure factors was 59.77%, and the interaction index was 2. 49. Conclusion： The interaction between BMP4 538T/C mutation and NOG 615G/C mutation has important significance for researching the population with nsCL/P.