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目的探讨贵州省神经管畸形(NTDs)高发的可疑危险因素,揭示多因素在NTDs发生中的作用。方法采用1:1匹配的病例对照研究,选取9个地区(州、市)63所医院NTDs患儿的母亲110例和正常儿母亲110人进行问卷调查和血样采集,采用PCR-RFLP和PCR产物测序验证HKⅡ基因第15外显子C736G、INSR G6244A基因多态性、PC-1 K121Q基因多态性;运用SPSS16.0软件进行单因素及多因素logistic回归分析。结果χ2检验分析发现,INSR G6244A在病例组和对照组中的基因型频率分布有统计学差异(P<0.05),HKⅡ基因第15外显子和PC-1 K121Q基因多态性在两组间的基因频率分布无统计学差异(P>0.05);多因素条件logistic回归分析显示,妊娠剧吐、食用发芽土豆、妊娠期糖尿病和INSR G6244A基因多态性与NTDs的发生相关,OR及其95%CI分别为3.62(1.46~8.95)、4.01(1.65~9.72)、3.65(1.41~9.48)、3.10(1.52~6.33);母亲高文化程度是NTDs的保护因素,OR及其95%CI为0.45(0.28~0.73)。结论贵州省NTDs发生的主要危险因素为母亲妊娠剧吐史、食用发芽土豆、妊娠期糖尿病和INSR G6244A基因多态性,而母亲高文化程度是其独立保护因素。
Objective To investigate the suspicious risk factors of high incidence of neural tube defects (NTDs) in Guizhou Province and to reveal the role of multiple factors in the pathogenesis of NTDs. Methods A 1: 1 matching case-control study was conducted. Totally 110 mothers with mothers and 110 mothers with NTDs in 63 hospitals in 9 regions (prefectures and cities) were selected for questionnaire survey and blood sampling. PCR-RFLP and PCR products Sequencing was used to verify the polymorphisms of C736G, INSR G6244A and PC-1 K121Q in exon 15 of HKⅡ gene. Single factor and multivariate logistic regression analysis were performed using SPSS16.0 software. Results χ2 test showed that there was a significant difference (P <0.05) in the genotype frequency of INSR G6244A between case group and control group. The polymorphism of exon 15 and PC-1 K121Q of HKⅡ gene was significantly different between the two groups (P> 0.05). Multivariate conditional logistic regression analysis showed that the incidence of NTDs was significantly associated with the occurrence of NTDs in the patients with gestational hypegestational symptoms, consumption of sprouted potatoes, gestational diabetes mellitus and INSR G6244A gene polymorphisms % CI were 3.62 (1.46-8.95), 4.01 (1.65-9.72), 3.65 (1.41-9.48) and 3.10 (1.52-6.33), respectively. The high educational level of mothers was the protective factor of NTDs, and OR and 95% CI was 0.45 (0.28 ~ 0.73). Conclusion The main risk factors of NTDs in Guizhou Province are mothers with history of hyperemesis, edible sprouting potatoes, gestational diabetes mellitus and INSR G6244A gene polymorphism, while the mother’s high educational level is independent protective factor.