Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, Freiburg, Germany.
Dis Markers. 2010;29(1):1-9. doi: 10.3233/DMA-2010-0720.
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 < or = 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.
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。目前已经知道一些疾病发生的临床危险因素。此外,最近还确定了一些候选基因。我们旨在确定德国人群中 BPD 发病的临床和遗传危险因素。在弗赖堡的三级新生儿中心,招募了 155 名胎龄<或=28 周出生的婴儿。从医院病历中记录临床数据。47 名儿童发展为中度或重度 BPD。对所有儿童进行了 16 个基因内 37 个多态性的基因分型。BPD 的最强的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的单个多态性中检测到遗传关联。前两个基因在单体型分析中也与 BPD 相关。总之,与 BPD 的关联更多地是通过一些临床因素而不是遗传多态性找到的。这突显出该疾病的遗传复杂性。此外,由于临床和遗传因素之间的复杂相互作用,可能会阻碍易感遗传多态性的鉴定。