环境和基因多态性与非综合征性唇腭裂的关系

Association of transforming growth factor -α gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in han nationality

目的研究环境因素及汉族人转化生长因子-α(TGF-α)基因多态性与非综合征性唇腭裂(NSCL/P)的关系。方法采用病例对照研究的方法,选择169例NSCL/P患者与198例正常人为研究对象,通过问卷调查获得所有研究对象母亲孕早期感染史、孕期服药史及叶酸补充等资料,通过聚合酶链反应及限制性酶切方法检测TGFαC2位点的基因多态性,研究结果进行统计学分析。结果 NSCL/P患者中C2等位基因频率比正常对照组明显增高(55%比31%),其差异有统计学意义(P<0.05)。两组比较,病例组其母亲孕早期感染、孕期服药及不补充叶酸的发生率亦明显高于对照组(P<0.05)。C1C2基因型与孕早期感染、孕期服药和叶酸补充3个因素有交互作用。结论 TGF-α基因突变及孕早期感染史、孕期服药史、未补充叶酸等环境因素与汉族人NSCL/P的发生有关;含有TGFαC2等位基因的个体对孕早期感染、孕期服药和叶酸缺乏3个危险因素更为敏感。

Objective To study the association of transforming growth factor-α（TGF-α）gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate （NSCL/P）in Han nationality. Methods Data related to infection, drug intake and folic acid supplement during pregnancy were gained through investigation of mothers. Polymerase chain reaction combined with restrict enzyme digestion was used to detect the target gene variation in 169 patients with NSCL/P and 198 healthy controls. Analysis was carried on the genotype and infection,drug intake and folic acid supplement. Results The C2 allele frequency in patients with NSCL/P was significantly higher than that in healthy controls. There was a significant increase of patients with NSCL/P in pregnant women exposed to infection, drug intake and folic acid deficiency. There was an interaction between C1C2 genetype and infection, drug intake and folic acid supplement. Conclusions TGF-αgene polymorphism is associated with NSCL/P. Infection, drug intake and folic acid supplement during pregnancy were associated with the occurrence of NSCL/P. Individuals containing C2 allele were more sensitive to infection, drug intake and folic acid deficiency.