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TNF-α基因启动子-308位点多态性与中国成都地区汉族早产的相关性研究 被引量：3

Gene Polymorphism of Tumor Necrosis Factor-α Promoter Region in-308 Site and Premature Births in Chinese Han Populations
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摘要 目的探讨肿瘤坏死因子α基因（TNF-α）启动子-308G／A多态性与中国成都地区汉族早产的关系。方法收集96例孕产妇（其中46例早产患者和50例正常足月分娩者）的外周静脉血，采用Chelex-100法提取DNA，PCR限制性内切酶片段长度多态性（PCR—RFLP）法检测TNF-α基因启动子-308位点基因多态性。结果①TNF-α基因启动子-308位点基因型TNF1／1（GG）、TNF1／2＋TNF2／2（GA＋AA）频率在早产组和正常对照组分别为60．9％、32．6oA＋6．5％和82．0％、12．0％＋6．0％；等位基因刚n（G）、TNF2（A）频率在早产组和正常对照组分别为77．2％、22．8％和88．0％、12．0％；两组基因型分布频率和等位基因出现频率比较差异均有统计学意义（P〈0．05）。②携带基因型TNF1／2（GA）和TNF2／2（AA）的个体患早产的危险是携带TNF1／1（GG）基因型个体的2．929倍（95％CI 1．152～7．447），携带等位基因TNF2（A）个体早产的发生率是携带TNF1（G）个体的2．169倍（95％CI 0．999-4．709）。结论TNF-α基因启动子-308位点多态性与中国成都地区汉族早产的易感性相关，等位基因TNF2（A）可能是早产的危险因素之一。 Objective To investigate the relationship between the polymorphism of tumor necrosis factor-α gene --308G/A and premature births. Methods DNA was extracted from the blood samples taken from 96 women using chelex-100 method, among whom 46 gave premature births and 50 gave normal births. Then PCR- RFLP was performed to determine the TNF-α --308 gene polymorphism. Results （1） The frequencies of TNF-α --308 genotype TNF1/I（GG） and TNF1/2＋TNF2/2（GA＋AA） were 60. 9% and 32. 6%＋6. 5% for the women given premature births and 82.0% and 12.0%＋6. 0% for the women given normal births, respectively. The allele frequencies of TNFI（G） and TNF2（A） were 77. 2% and 22.8% for the women given premature births and 88. 0% and 12. 0% for the women given normal births, respectively. The differences were statistically significant （P〈0. 05）. （2） The women with genotype TNF1/2（GA）and TNF2/2（AA） were 2. 929（95%CI 1. 152- 7. 447）times of those with TNF1/I（GG）in risk of giving premature births. The women with allele （TNF2） were also more likely to give premature births, with an odds ratio （OR） of 2. 169 （95%CI 0. 999, 4. 709） compared to those with TNF1. Conclusion Gene polymorphism of Tumor Necrosis Factor-α promoter region in --308 site is associated with increased risk of premature births. TNF2（A） allele may be a risk factor of premature births in Chinese populations.
作者 蒲杰 曾蔚越
机构地区 四川省妇幼保健院.四川省妇女儿童医院 四川大学华西第二医院妇产科
出处 《四川大学学报（医学版）》 CAS CSCD 北大核心 2007年第6期984-986,1036,共4页 Journal of Sichuan University(Medical Sciences)
关键词 肿瘤坏死因子Α 基因多态性 早产 Tumor necrosis factor-α （TNF-α） Gene polymorphism Preterm labor
分类号 R714.21 [医药卫生—妇产科学]
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参考文献10

  • 1Louis E, Franchimont D, Piron A, et al. Tumor necrosis factor (TNF) gene polymorphism influences TNF-alpha production in lip-oplysaccharide(LPS) -stimulated whole blood cell culture in healthy humans. Clin Exp Immunol, 1998; 113 (3) :401-406.
  • 2Baseggio L, Bienvenu J, Chariot C, et al. High LPS- stimulated TNF-alpha mRNA levels in peripheral blood mononuclear cells from non-Hodgkin's lymphoma patients. Exp Hematol,2001 ;29(3) :330-338.
  • 3Fortunato S J, Menon R, Lombardi SJ, et al. Role of tumor necrosis faetor-a in the premature rupture of membranes and preterm labor pathways. Am J Obstet Gyneeol,2002;187(5): 1159-1162.
  • 4Winkler M. Role of cytokines and other inflammatory mediators. BJOG,2003;110(suppl 20) :118-123.
  • 5Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques, 1991 ; 10(4) : 506-513.
  • 6Wilson A, Vries ND, Pociot F, et al. An allelic polymorphism with in the human necrosis factor promoter region is strongly associated with HLA A1, B8, and DR3 alleles. J Exp Med, 1993 ; 177 (2) : 557-560.
  • 7Varner MW, Esplin MS. Current understanding of genetic factors in preterm birth. BJOG,2005;112(suppl 1):28-31.
  • 8Aidoo M, McElroy PD, Kolczak MS, et al. Tumor necrosis factor promoter variant 2 (TNF2) is associated with preterm delivery, infant mortality and malaria morbidity in Western Kenya. AsemboBay Cohott Project IX. Genet Epidemiol, 2001 ;21(3) :201-211.
  • 9Macones G, Parry S, Elkousy M, et al. A polymorphism in the promoter region of TNF and bacterial vaginosis: preliminary evidence of gene-environment interaction in the etiology of spontaneous preterm birth. Am J Obstet Gyneeol, 2004 ; 190(6) : 1504-1508.
  • 10Dizon-Townson D, Major H, Varner M, et al. A promoter mutation that increases transcription of the tumor necrosis factor gene is not associated with preterm delivery. Am J Obstet Gyneeol,1997;177(4) :810-813.

同被引文献31

  • 1任雁林,马秀菊,赵屹,吴燕菁,辛虹,王振海.细胞凋亡与胎膜早破的相关性研究[J].生殖与避孕,2005,25(7):404-409. 被引量：7
  • 2Shobokshi A, Sharawy M. Maternal serum and amniotic fluid cytokines in patients with preterm premature rupture of membranes with and without intrauterine infection. Int J Gynaeeol Obstet, 2002 , 79 (3) : 209-215.
  • 3Huang HC, Wang CL, Huang LT, et al. Association of cord blood eytokines with prematurity and cerebral palsy. Early Human Development,2004,77(2) :29-36.
  • 4Bell MJ, Hallenbeck JM, Gallo V. Determining the fetal inflammatory response in an experimental model of intrauterine inflammatory in rats. Pediatric Research, 2004 , 56 (4):541-546.
  • 5Winkler M. Role of cytokines and other inflammatory mediators. BJOG,2003;110(suppl 20) :118-123.
  • 6Sehringer B, Schfer WR, Wetzka B. Formation of proinflammatory cytokines in human term myometrium is stimulated by lipopolysaccharide but not by corticotropin-releasing hormone. Journal of Clinical Endocrinology & Metabolism, 2000; 85(12):4859-4865.
  • 7Wilson AG, de Vries FS, Pociot F, et al. An allelic polymorphism within the human tumor necrosis factor alpha promoter region is strongly associated with HLA A1, 138, and DR3 alleles. Exp Med,1993,177(2):557-560.
  • 8Louis E, Franchimont D, Piron A, et al. Tumor necrosis factor (TNF) gone polymorphism influences TNF-alpha production in lip-oplysaccharide (LPS)-stimulated whole blood cell culture in healthy humans. Clin Exp Immunol, 1998 ; 113 (3) : 401-406.
  • 9Baseggio L, Bienvenu J, Chariot C, et al. Higher LPS-stimulated TNF-alpha mRNA levels in peripheral blood mononuclear cells from non-Hodgkin's lymphoma patients. Exp Hematol, 2001 ;29(3) : 330-338.
  • 10Aidoo M, McElroy PD, Kolczak MS, et al. Tumor necrosis factor promoter variant 2 (TNF2) is associated with preterm delivery, infant mortality and malaria morbidity in Western Kenya. AsemboBay Cohort Project Ⅸ. Genet Epidemiol, 2001;21(3) :201-211.

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四川大学学报（医学版）
2007年 第6期

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