|本期目录/Table of Contents|

[1]倪世宏,刘兴元,魏东,等.缺氧诱导因子1-α基因C1744T多态与先天性心脏病的相关性研究[J].国际心血管病杂志,2016,01:46-49.
 NI Shihong,LIU Xingyuan,WEI Dong,et al.Study on the association of the polymorphism of C1744T in the hypoxia-inducible factor 1-alpha gene with congenital heart disease[J].International Journal of Cardiovascular Disease,2016,01:46-49.
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缺氧诱导因子1-α基因C1744T多态与先天性心脏病的相关性研究(PDF)

《国际心血管病杂志》[ISSN:1006-6977/CN:61-1281/TN]

期数:
2016年01期
页码:
46-49
栏目:
出版日期:
2016-01-20

文章信息/Info

Title:
Study on the association of the polymorphism of C1744T in the hypoxia-inducible factor 1-alpha gene with congenital heart disease
作者:
倪世宏刘兴元魏东杨奕清
200431 上海,复旦大学附属华山医院宝山分院儿科(倪世宏); 200065 上海,同济大学医学院附属同济医院儿科(刘兴元); 200040 上海,上海交通大学附属儿童医院儿科(魏 东); 200030 上海,上海交通大学附属胸科医院心血管研究室(杨奕清)
Author(s):
NI Shihong1 LIU Xingyuan2 WEI Dong3 YANG Yiqing4.
1.Department of Pediatrics, Baoshan Branch of Huashan Hospital, Fudan University, Shanghai 200431, China; 2.Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China; 3.Department of Pediatrics, Children's Hos
关键词:
先天性心脏病遗传学基因多态性缺氧诱导因子
Keywords:
Congenital heart disease Genetics Gene polymorphism Hypoxia-inducible factor
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2016.01.014
文献标识码:
-
摘要:
目的:研究缺氧诱导因子1-α(hypoxia-induciblefactor1-alpha,HIF1α)基因C1744T多态与先天性心脏病(congenitalheartdisease,CHD)的关系。方法:入选CHD患儿110例(病例组)及无CHD儿童200名(对照组),收集其临床资料和血标本,使用基因组DNA纯化试剂盒抽提基因组DNA。通过聚合酶链反应扩增HIF1α基因的第12个外显子,应用DNA测序试剂盒在DNA测序仪上对扩增片段进行测序。统计分析HIF1α基因C1744T多态在病例组和对照组间的频
Abstract:
Objective: To study the association of the polymorphism C1744T in the hypoxia-inducible factor 1-alpha(HIF1α)gene with congenital heart disease(CHD).Methods: A total of 110 children with CHD(case group)and 200 children without CHD(control group)were recru

参考文献/References

[1] Go AS, Mozaffarian D, Roger VL, et al. Heart disease and stroke statistics—2014 update: a report from the American Heart Association[J]. Circulation, 2014, 129(3): e28-e292.
[2] Kahr PC, Diller GP. Almanac 2014: congenital heart disease[J]. Heart, 2015, 101(1): 65-71.
[3] 毛红柳,刘兴元.先天性心脏病相关GATA5基因突变研究[J].国际心血管病杂志, 2013, 40(3): 173-177.
[4] 徐 蕾, 袁 方, 李若谷, 等. 先天性房间隔缺损相关GATA6基因新突变的识别[J]. 国际心血管病杂志, 2014, 41(2): 121-124.
[5] Fahed AC, Gelb BD, Seidman JG, et al. Genetics of congenital heart disease: the glass half empty[J]. Circ Res, 2013, 112(4): 707-720.
[6] Andersen TA, Troelsen Kde L, Larsen LA. Of mice and men: molecular genetics of congenital heart disease[J]. Cell Mol Life Sci, 2014, 71(8): 1327-1352.
[7] Semenza GL. Hypoxia-inducible factor 1 and cardiovascular disease[J]. Annu Rev Physiol, 2014, 76: 39-56.
[8] Compernolle V, Brusselmans K, Franco D, et al. Cardia bifida, defective heart development and abnormal neural crest migration in embryos lacking hypoxia-inducible factor-1alpha[J]. Cardiovasc Res, 2003, 60(3): 569-579.
[9] Ye Y, Wang M, Hu S, et al. Hypoxia-inducible factor-1α C1772T polymorphism and cancer risk: a meta-analysis including 18,334 subjects[J]. Cancer Invest, 2014, 32(4): 126-135.
[10] Nagy G, Kovacs-Nagy R, Kereszturi E, et al. Association of hypoxia inducible factor-1 alpha gene polymorphism with both type 1 and type 2 diabetes in a Caucasian(Hungarian)sample[J]. BMC Med Genet, 2009, 10: 79.
[11] Resar JR, Roguin A, Voner J, et al. Hypoxia-inducible factor 1alpha polymorphism andcoronary collaterals in patients with ischemic heart disease[J]. Chest, 2005, 128(2): 787-791.
[12] Lin WP, Wang XJ, Wang CR, et al. Polymorphism in the hypoxia-inducible factor 1alpha gene may confer susceptibility to LDD in Chinese cohort[J]. PLoS One, 2013, 8(8): e73158.
[13] 祁 琳,张晓雷,毛立群,等.HIF-1与低氧性疾病关系的研究进展[J].武警后勤学院学报(医学版),2013,22(4):330-333.
[14] 李海生,朱玲玲,范 明.低氧诱导因子-1 结构、活性调节及其靶基因的研究进展[J].军事医学科学院院刊,2004,28(2):183-186.
[15] Hu X, Fang Y, Zheng J, et al. The association between HIF-1α polymorphism and cancer risk: a systematic review and meta-analysis[J].Tumour Biol, 2014, 35(2): 903-916.
[16] Tanimoto K, Yoshiga K, Eguchi H, et al. Hypoxia-inducible factor-1alpha polymorphisms associated with enhanced transactivation capacity, implying clinical significance[J]. Carcinogenesis, 2003, 24(11): 1779-1783.
[17] Fu XS, Choi E, Bubley GJ, et al. Identification of hypoxia-inducible factor-1alpha(HIF-1alpha)polymorphism as a mutation in prostatecancer that prevents normoxia-induced degradation[J]. Prostate, 2005, 63(3): 215-221.

备注/Memo

备注/Memo:
基金项目:上海市宝山区自然科学基金(12-E-25) 作者单位:200431 上海,复旦大学附属华山医院宝山分院儿科(倪世宏); 200065 上海,同济大学医学院附属同济医院儿科(刘兴元); 200040 上海,上海交通大学附属儿童医院儿科(魏 东); 200030 上海,上海交通大学附属胸科医院心血管研究室(杨奕清) 通信作者:倪世宏,Email: ni_shihong@sina.com
更新日期/Last Update: 2016-01-20