Transient tachypnea of the newborn (TTN):: A role for polymorphisms in the β-adrenergic receptor (ADRB) encoding genes?
Transient tachypnea of the newborn (TTN):: A role for polymorphisms in the β-adrenergic receptor (ADRB) encoding genes?
复制标题
DOI：
10.1111/j.1651-2227.2008.00888.x
复制
发表时间：
2008-10-01
期刊：
影响因子：
3.8
通讯作者：
Gortner, Ludwig
中科院分区：
文献类型：
--
作者：
Aslan, Ece;Tutdibi, Erol;Gortner, Ludwig
目的：新生儿短暂性呼吸急促（TTN）是足月新生儿早期呼吸窘迫的常见原因。出生后胎儿肺液的延迟吸收被认为是主要的病理生理因素。由于胎肺液的吸收是一个依赖于儿茶酚胺的过程，我们的目的是研究β 1和β 2肾上腺素受体是否（ADRB 1，ADRB 2）多态性，已知改变儿茶酚胺活性，在TTN.Methods：从73名患有TTN的足月新生儿和55名来自高加索队列的健康对照者中收集DNA用于基因分型。TTN婴儿更可能是男性（70%对49%; p < 0.05），平均出生体重较低（3120 +/- 450 vs. 3396 +/- 504 g; p < 0.001）和胎龄（GA）（38.4 +/- 1.2 vs. 39.4 +/- 1.3周; p < 0.001），更常通过剖腹产（CS）分娩（71% vs. 26%; p < 0.001）。β 1 Ser 49 Gly多态性在病例组和对照组之间差异显著。多变量分析显示β 1Gly 49纯合子比β 1 Ser 49等位基因携带者具有更高的TTN风险（OR 18.5; 95%CI 1.5-229; p = 0.023）。结论：ADRB 2基因β 1Gly 49纯合性和TACC单倍型均为功能缺失型，可能是TTN的易感基因。
Aim: Transient tachypnea of the newborn (TTN) is a common cause of early respiratory distress in the neonatal period of term infants. Delayed resorption of foetal lung fluid after birth is considered as the main pathophysiological factor. As resorption of foetal lung fluid is a catecholamine dependent process, we aimed at investigating, whether beta 1- and beta 2-adrenoreceptor (ADRB1, ADRB2) polymorphisms, known to alter catecholamine activity, are operative in TTN.Methods: DNA was collected for genotyping from 73 term newborns suffering from TTN and 55 healthy controls from a Caucasian cohort.Results: TTN infants were more likely to be male (70% vs. 49%; p < 0.05), had a lower mean birthweight (3120 +/- 450 vs. 3396 +/- 504 g; p < 0.001) and gestational age (GA) (38.4 +/- 1.2 vs. 39.4 +/- 1.3 weeks; p < 0.001) and were more often delivered by caesarean section (CS) (71% vs. 26%; p < 0.001). The beta 1Ser49Gly polymorphism differed significantly between cases and controls. Multivariate analysis provided beta 1Gly49 homozygotes with higher risk for TTN (OR 18.5; 95%CI 1.5-229; p = 0.023) than beta 1Ser49 allele carrier. Further analysis showed significant association of T-47C, A46G, C79G and C491T (TACC) haplotype in ADRB2 gene with TTN (p = 0.048).Conclusion: We conclude that beta 1Gly49 homozygosity and TACC haplotype of ADRB2 gene, both loss-of-function genetic variations, may predispose to TTN.