肿瘤坏死因子α/G30 8A多态性与早产的关联性研究(英文)  

Tumor necrosis factor-alpha gene G308A polymorphism is associated with the risk of preterm delivery

作　　者：陈大方[1] 胡永华[2] 吴白燕[1] 陈枥[1] 方治安 杨帆 王黎华[2] 

机构地区：[1]北京大学基础医学院细胞生物与遗传学系 [2]北京大学公共卫生学院流行病学与卫生统计学系,北京100083 [3]安徽生物医学研究所安庆分所

出　　处：《北京大学学报（医学版）》2003年第4期377-381,共5页Journal of Peking University:Health Sciences

摘　　要：目的 :探讨肿瘤坏死因子α/G30 8A多态性对早产的影响 ,于 1997年 7月至 2 0 0 1年 6月 ,在安徽省安庆市医院进行了一项早产遗传影响因素的分子流行病学调查。方法 :采用病例对照及核心家系的研究设计 ,于 1997年 7月至 2 0 0 1年 6月 ,在安徽省安庆市医院收集了 133个核心家系的资料。其中 5 4个家系为早产家系 ,79个家系为正常分娩孕周家系。全血采用 puregene Kit试剂盒提取基因组DNA ,PCR方法鉴定肿瘤坏死因子α基因型。结果 :首先采用多元Logistic回归模型分析了婴儿肿瘤坏死因子α/G30 8A多态对早产的影响 ,以G30 8G同源野生基因型作为参照组 ,研究发现 ,A30 8A同源突变基因型能够显著增加早产的危险性 [OR =0 .0 39,95 %CI:1.14～12 8.75 ]。考虑到以人群为基础的病例对照研究由于人群遗传背景的异质性 ,从而可能导致疾病与基因之间统计结果的假相关 ,本研究进一步采用了以核心家系为基础的家系关联分析 ,发现 30 8A突变等位基因隐性遗传模型结果和叠加模型结果均显示对早产产生不良影响 ,其P值分别为 0 .0 4和 0 .0 18,与多元Logistic回归模型的研究结果一致。结论 :婴儿肿瘤坏死因子α/G30 8A基因中的 30 8A突变等位基因与早产相关 ,可能为早产的遗传易感位点之一。Objective: To investigate the association between polymorphism in tumor necrosis factor alpha(TNF α)/G308A and preterm delivery (PTD). Between July 1999 and June 2001, we conducted a molecular epidemiological study on genetic determinants of PTD at Anqing Hospital, China. Methods: In a case control parent triads study, we investigated a total of 133 nuclear families: 79 normal gestational age families and 54 PTD families. A DNA extraction and polymerase chain reaction followed by restriction fragment length polymorphism analysis were used to genotype for the presence of TNF α/G308A polymorphism. Results: Gestational age was analyzed as a binary variable. Multiple logistic regression analysis results showed that TNF α/A308A genotype was significantly increased the risk of preterm delivery(OR=0.039, 95%CI: 1.14-128.75). In consistence with the population based multiple logistic regression analysis, Family Based Association Test (FBAT) analysis showed that TNF α/ 308A allele was associated with preterm delivery as 308A recessive inheritance model and 308A additive inheritance model both gave rise to the significant result ( P =0.040 and P =0.018 respectively ). Conclusion: Carriage of the mutant 308A allele of TNF α/G308A polymorphism is associated with preterm delivery, which may be genuine etiologic factors of PTD.

关 键 词：肿瘤坏死因子Α G308A 多态性 早产 关联性研究 

分 类 号：R714.21[医药卫生—妇产科学]