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The Angiotensin Converting Enzyme Insertion/Deletion polymorphism is not associated with an increased risk of death or bronchopulmonary dysplasia in ventilated very low birth weight infants

机译:通风性极低体重婴儿的血管紧张素转换酶插入/缺失多态性与死亡或支气管肺发育异常的风险增加无关

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Background The ACE gene contains a polymorphism consisting of either the presence (insertion, I) or absence (deletion, D) of a 287 bp alu repeat in intron 16. The D allele is associated with increased ACE activity in both tissue and plasma. The DD genotype is associated with risk of developing ARDS and mortality. The frequency of the D allele is higher in patients with pulmonary fibrosis, sarcoidosis and berylliosis. The role of this polymorphism has not been studied in the development of BPD in the premature newborn. Methods ACE I/D genotype was determined in 245 (194 African-American, 47 Caucasian and 4 Hispanic) mechanically ventilated infants weighing less than 1250 grams at birth and compared to outcome (death and/or development of BPD). Results The incidence of the D allele in the study population was 0.58. Eighty-eight (35.9%) infants were homozygous DD, 107 (43.7%) were heterozygous ID and 50 (20.4%) were homozygous II. There were no significant differences between genotype groups with respect to ethnic origin, birth weight, gestation, or gender. There was no effect of the ACE I/D polymorphism on mortality or development of BPD (O2 on 28 days or 36 weeks PCA). Secondary outcomes (intraventricular hemorrhage and periventricular leukomalacia) similarly were not influenced by the ACE ID polymorphism. Conclusions The ACE I/D polymorphism does not significantly influence the development of BPD in ventilated infants less than 1250 grams.
机译:背景ACE基因包含一个多态性,该多态性由内含子16中287 bp alu重复序列的存在(插入)或不存在(删除,D)组成。D等位基因与组织和血浆中的ACE活性增加相关。 DD基因型与发展ARDS和死亡的风险有关。患有肺纤维化,结节病和铍病的患者中D等位基因的频率较高。尚未研究过这种多态性在早产儿BPD发生中的作用。方法在245名(194名非裔美国人,47名白种人和4名西班牙裔)机械通气婴儿中确定了ACE I / D基因型,这些婴儿出生时体重不足1250克,并将其与预后(死亡和/或BPD发展)进行了比较。结果研究人群中D等位基因的发生率为0.58。 DD为纯合子的婴儿为88名(35.9%),ID为纯合子的婴儿为107名(43.7%),II为纯合子的婴儿为50名(20.4%)。基因型组之间在种族出身,出生体重,妊娠或性别方面无显着差异。 ACE I / D多态性对BPD的死亡率或发展无影响(PCA在28天或36周时为O 2 )。次要结果(脑室内出血和脑室白细胞软化)同样不受ACE ID多态性的影响。结论ACE I / D多态性不会显着影响1250克以下通气婴儿的BPD发育。

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