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Genetic and epidemiological risk factors in the development of bronchopulmonary dysplasia.
Disease Markers ( IF 3.464 ) Pub Date : 2010 , DOI: 10.3233/dma-2010-0720
Beena Mailaparambil 1 , Marcus Krueger , Ulrike Heizmann , Katharina Schlegel , Jessica Heinze , Andrea Heinzmann
Affiliation  

Bronchopulmonary dysplasia (BPD) is the chronic lung disease of preterm infants and still represents a major burden of prematurity. Several clinical risk factors for the onset of the disease are already known. In addition, some candidate genes have recently been identified. We set out to determine clinical as well as genetic risk factors for the development of BPD in the German population.155 infants born with a gestational age ࣘ 28 at the tertiary neonatal Centre, Freiburg, were recruited. Clinical data were recorded from hospital charts. 47 children developed moderate or severe BPD. For genetic analyses, 37 polymorphisms within sixteen genes were genotyped on all children.The strongest epidemiological risk factor for BPD was birth weight, followed by low gestational age. Genetic association was detected with single polymorphisms within Tumour necrosis factor alpha, Toll like receptor 10 and vascular endothelial growth factor. The former two genes showed also association with BPD in haplotype analyses. In conclusion, association of BPD was far more convincingly found with a few clinical factors than with genetic polymorphisms. This underscores the genetic complexity of the disease. Furthermore, the identification of predisposing genetic polymorphisms might be hampered by the complex interaction between clinical and genetic factors.

中文翻译:

支气管肺发育不良发生的遗传和流行病学危险因素。

支气管肺发育不良(BPD)是早产儿的慢性肺部疾病,仍然是早产儿的主要负担。该疾病发作的几个临床危险因素是已知的。此外,最近还鉴定了一些候选基因。我们着手确定德国人群中发生 BPD 的临床和遗传风险因素。招募了 155 名在弗莱堡三级新生儿中心出生的胎龄 ࣘ 28 的婴儿。临床数据是从医院图表中记录的。47 名儿童发展为中度或重度 BPD。对于遗传分析,所有儿童的 16 个基因中的 37 个多态性被分型。BPD 的最强流行病学危险因素是出生体重,其次是低胎龄。在肿瘤坏死因子 α、Toll 样受体 10 和血管内皮生长因子中检测到单一多态性的遗传关联。前两个基因在单倍型分析中也显示与 BPD 相关。总之,与遗传多态性相比,BPD 与一些临床因素的关联更令人信服。这强调了该疾病的遗传复杂性。此外,易感遗传多态性的鉴定可能会受到临床和遗传因素之间复杂相互作用的阻碍。这强调了该疾病的遗传复杂性。此外,易感遗传多态性的鉴定可能会受到临床和遗传因素之间复杂相互作用的阻碍。这强调了该疾病的遗传复杂性。此外,易感遗传多态性的鉴定可能会受到临床和遗传因素之间复杂相互作用的阻碍。
更新日期:2020-09-25
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