Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Pediatr Res. 2009 Dec;66(6):693-7. doi: 10.1203/PDR.0b013e3181bbce86.
Previous studies to identify a genetic component to RDS have shown conflicting results. Our objectives were to evaluate and quantify the genetic contribution to RDS using data that comprehensively includes known environmental factors in a large sample of premature twins. Data from a retrospective chart review of twins born at < or =32 wk GA were obtained from two neonatal units. Mixed effects logistic regression (MELR) analysis was used to assess the influence of several independent covariates on RDS. A zygosity analysis, including the effects of additive genetic, common environmental and residual effects (ACE) factors, was performed to estimate the genetic contribution. Results reveal that the 332 twin pairs had a mean GA of 29.5 wk and birth weight (BW) of 1372 g. An MELR identified significant nongenetic covariates as male gender (p = 0.04), BW (p < 0.001), 5-min Apgar score (p < 0.001), and treating institution (p = 0.001) as significant predictors for RDS. The ACE model was used to estimate the genetic susceptibility to RDS by adjusting for the above factors. We found 49.7% (p = 0.04) of the variance in liability to RDS was the result of genetic factors alone. We conclude that there is a significant genetic susceptibility to RDS in preterm infants.
先前的研究表明，RDS 存在遗传成分，但结果相互矛盾。我们的目的是利用大量早产双胞胎的数据，全面评估和量化已知环境因素对 RDS 的遗传贡献。这项回顾性图表研究的数据来自两个新生儿病房的出生胎龄为<=32 周的双胞胎。使用混合效应逻辑回归（MELR）分析评估了几个独立协变量对 RDS 的影响。进行了一种同卵双生分析，包括加性遗传、共同环境和剩余效应（ACE）因素的影响，以估计遗传贡献。结果表明，332 对双胞胎的平均胎龄为 29.5 周，出生体重（BW）为 1372 克。MELR 确定了一些非遗传协变量，如性别（男）（p=0.04）、BW（p<0.001）、5 分钟 Apgar 评分（p<0.001）和治疗机构（p=0.001），这些都是 RDS 的显著预测因素。ACE 模型用于通过调整上述因素来估计 RDS 的遗传易感性。我们发现，49.7%（p=0.04）的 RDS 发病风险的方差是由遗传因素单独引起的。我们得出结论，早产儿对 RDS 有显著的遗传易感性。
