CAJ | 학술논문

目的:探讨肿瘤坏死因子α/G308A多态性对早产的影响,于1997年7月至2001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2001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54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/G308A多态对早产的影响,以G308G同源野生基因型作为参照组,研究发现,A308A同源突变基因型能够显著增加早产的危险性[OR=0.039, 95%CI: 1.14～128.75].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308A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0.04和0.018,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/G308A基因中的308A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.
목적:탐토종류배사인자α/G308A다태성대조산적영향,우1997년7월지2001년6월,재안휘성안경시의원진행료일항조산유전영향인소적분자류행병학조사.방법:채용병례대조급핵심가계적연구설계,우1997년7월지2001년6월,재안휘성안경시의원수집료133개핵심가계적자료.기중54개가계위조산가계,79개가계위정상분면잉주가계.전혈채용puregene-Kit시제합제취기인조DNA,PCR방법감정종류배사인자α기인형.결과:수선채용다원Logistic회귀모형분석료영인종류배사인자α/G308A다태대조산적영향,이G308G동원야생기인형작위삼조조,연구발현,A308A동원돌변기인형능구현저증가조산적위험성[OR=0.039, 95%CI: 1.14～128.75].고필도이인군위기출적병례대조연구유우인군유전배경적이질성,종이가능도치질병여기인지간통계결과적가상관,본연구진일보채용료이핵심가계위기출적가계관련분석,발현308A돌변등위기인은성유전모형결과화첩가모형결과균현시대조산산생불량영향,기P치분별위0.04화0.018,여다원Logistic회귀모형적연구결과일치.결론:영인종류배사인자α/G308A기인중적308A돌변등위기인여조산상관,가능위조산적유전역감위점지일.
SUMMARY　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.