文章摘要
王芳,杨艳芳,李佩珍.山西省神经管畸形影响因素的病例对照研究[J].中华流行病学杂志,2008,29(8):771-774
山西省神经管畸形影响因素的病例对照研究
A cuse-control study on the risk factors of neural tube defects in Shanxi province
投稿时间:2008-01-15  修订日期:2012-06-07
DOI:
中文关键词: 神经管畸形;影响因素;病例对照研究
英文关键词: Neural ube defects;Risk factors;Case-control study
基金项目:中国自杀协作研究培训课题资助项目(413169001G)
作者单位E-mail
王芳 首都儿科研究所分子免疫室,北京100020 lipz228@sina.com 
杨艳芳 山东大学公共卫生学院 ,北京100020  
李佩珍 首都儿科研究所分子免疫室,北京100020  
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中文摘要:
      目的<\b>探索山西省神经管畸形(NTDs)患儿发生的影响因素。方法<\b>采用1:1匹配的病例对照研究设计,对医院收集的病例组和对照组孕妇进行问卷调查,采集肘静脉血标本2ml,检测亚甲基四氢叶酸还原酶(MTHFR)基因多态性。使用条件logistic回归模型,对MTHFR基因及其他因素进行单因素及多因素分析,筛选山西省NTDs患儿发生的影响因素。结果<\b>MTHFR基因677位点有3种基因型,即野生型CC、杂合突变型CT和纯合突变型TT,3种基因型在病例组和对照组间分布差异有统计学意义(X2=14.61,P=0.001),病例组T等位基因频率(60.6%)高于对照组(41.4%),差异有统计学意义(X2=14.59,P〈0.001)。经单因素条件logistic回归分析有统计学意义的变量15项引入多因素条件logistic回归,最终进入模型的变量有4项,分别为既往孕次(OR=2.87,95%CI:1.28~6.44)、孕早期接触化肥(OR=16.18,95%CI:1.18~221.59)和经常食用发芽土豆(OR=4.66,95%CI:1.78~12.17)以及MTHFR基因677位点突变(OR=2.13,95%CI:1.08~4.21)。结论<\b>孕次、孕早期接触化肥、食用发芽土豆和MTHFR基因677位点突变是山西省NTDs患儿发生的主要危险因素。
英文摘要:
      Objective To explore the risk factors of neural tube defects (NTDs) in Shanxi province where the incidence of NTDs had been the highest in China. Methods 1 : 1 matched case-control study was used. All the objects collected from hospitals were investigated in standardized questionnaires about susceptible risk factors for NTDs and were genotyped for methylenetetrahydrofolate reductase (MTHFR) C667T polymorphism by PCR-RFLP method. The risk factors of NTDs were analyzed by conditional logistic regression and by SPSS 11.5 statistical software. We also analyzed the univariable and multi-variables in order to independently investigate the MTHFR genotype and maternal periconceptional adverse factors influencing on NTDs. Results Comparing MTHFR gene frequency between case group and control group, our results showed that three genotypes were found in MTHFR C677T. There was significant difference between two groups at 0.01 level (χ2= 14.61, P= 0.001 ) about the three genotypes. The MTHFR T allele frequency of mother with NTDs (60.6 % ) was higher than that of the control (41.4 % ),and there was significant difference between them (χ2= 14.59, P< 0.001). By univariate conditional logistic regression analysis, it was indicated that 15 factors were correlated with NTDs (P<0.05) in the level α= 0.05. By multi-variables conditional logistic regression analysis, four factors were connected to NTDs: frequency of pregnancy ( OR = 2.87,95 % Cl : 1.28- 6.44 ), contacting chemical combination in early pregnancy ( OR = 16.18,95 % CI : 1.18-22 1.59), frequent taking of germinated potato ( OR = 4.66,95 % CI : 1.78- 12.17) and MTHFR C677T mutation ( OR = 2.13,95 % CI : 1.08- 4.21 ). Conclusion Factors as ' frequency of pregnancy', ' history of contacting chemicals', ' taking germinated potatoes in early pregnancy', as well as 'MTHFR C677T mutation' in mothers were important risk factors affecting the occurrence of NTDs in Shanxi province.
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