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支气管肺发育不良的遗传风险因素。

Genetic risk factors of bronchopulmonary dysplasia.

作者信息

Kwinta Przemko, Bik-Multanowski Mirosław, Mitkowska Zofia, Tomasik Tomasz, Legutko Magdalena, Pietrzyk Jacek Józef

机构信息

Department of Pediatrics, Jagiellonian University, Cracow 30-663, Poland.

出版信息

Pediatr Res. 2008 Dec;64(6):682-8. doi: 10.1203/PDR.0b013e318184edeb.

DOI:10.1203/PDR.0b013e318184edeb
PMID:18614962
Abstract

The aim of the study was to assess the association between bronchopulmonary dysplasia (BPD) and polymorphisms of genes coding for vascular endothelial growth factor (VEGF), transforming growth factor (TGF-[beta]1), insulin-like growth factor (IGF-1), and 5,10-methylenetetrahydrofolate reductase (MTHFR). A sample of 181 newborns with mean gestational age of 28 wk was prospectively evaluated. Molecular analysis of TGF-[beta]1 -800G>A, -509C>T, 10T>C, 25G>C, VEGF -460T>C and 405G>C and MTHFR 677C>T polymorphisms were performed and the number of CA repeats in the promoter region of IGF-1 gene was assessed. The frequency of all TGF-[beta]1, IGF-1, and MTHFR polymorphisms, as well as the frequency of VEGF 405G>C polymorphism was similar in all groups. The newborns with -460TT and -460CT genotypes were significantly overrepresented in the BPD groups compared with the no BPD group. Multivariate analysis revealed that carrying T allele increased the risk of BPD by 9% (95%CI: 2-14%) above the baseline risk established for given gestational age, length of oxygen therapy, and sex. Based on our data from a single center, we propose that VEGF -460T>C polymorphism may influence the risk of BPD.

摘要

本研究旨在评估支气管肺发育不良(BPD)与血管内皮生长因子(VEGF)、转化生长因子(TGF-β1)、胰岛素样生长因子(IGF-1)及5,10-亚甲基四氢叶酸还原酶(MTHFR)编码基因多态性之间的关联。对181例平均胎龄为28周的新生儿样本进行了前瞻性评估。进行了TGF-β1 -800G>A、-509C>T、10T>C、25G>C、VEGF -460T>C和405G>C以及MTHFR 677C>T多态性的分子分析,并评估了IGF-1基因启动子区域CA重复序列的数量。所有组中所有TGF-β1、IGF-1和MTHFR多态性的频率以及VEGF 405G>C多态性的频率均相似。与无BPD组相比,BPD组中-460TT和-460CT基因型的新生儿明显过多。多变量分析显示,携带T等位基因使BPD风险比给定胎龄、氧疗时长和性别所确定的基线风险增加9%(95%CI:2-14%)。基于我们单中心的数据,我们提出VEGF -460T>C多态性可能影响BPD风险。

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