遗传易感性在支气管肺发育不良中的作用。
Role of Genetic Susceptibility in the Development of Bronchopulmonary Dysplasia.
机构信息
Brigham and Women's Hospital, Boston, MA; Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Brigham and Women's Hospital, Boston, MA.
出版信息
J Pediatr. 2018 Dec;203:234-241.e2. doi: 10.1016/j.jpeds.2018.07.099. Epub 2018 Oct 1.
OBJECTIVE
To assess heritable contributions to bronchopulmonary dysplasia (BPD) risk in a twin cohort restricted to gestational age at birth <29 weeks.
STUDY DESIGN
A total of 250 twin pairs (192 dichorionic, 58 monochorionic) born <29 weeks gestational age with known BPD status were identified. Three statistical methods applicable to twin cohorts (χ test, intraclass correlations [ICCs], and ACE modeling [additive genetic or A, common environmental or C, and unique environmental or E components]) were applied. Heritability was estimated as percent variability from A. Identical methods were applied to a subcohort defined by zygosity and to an independent validation cohort.
RESULTS
χ analyses comparing whether neither, 1, or both of monochorionic (23, 19, 16) and dichorionic (88, 56, 48) twin pairs developed BPD revealed no difference. Although there was similarity in BPD outcome within both monochorionic and dichorionic twin pairs by ICC (monochorionic ICC = 0.34, 95% CI [0.08, 0.55]; dichorionic ICC = 0.39, 95% CI [0.25, 0.51]), monochorionic twins were not more likely than dichorionic twins to have the same outcome (P = .70). ACE modeling revealed no contribution of heritability to BPD risk (% A = 0.0%, 95% CI [0.0%, 43.1%]). Validation and zygosity based cohort results were similar.
CONCLUSIONS
Our analysis suggests that heritability is not a major contributor to BPD risk in preterm infants <29 weeks gestational age.
目的
在仅包括出生胎龄<29 周的双胞胎队列中，评估支气管肺发育不良（BPD）风险的遗传贡献。
研究设计
共确定了 250 对出生胎龄<29 周且已知 BPD 状态的双胞胎（192 对双绒毛膜，58 对单绒毛膜）。应用了适用于双胞胎队列的三种统计方法（卡方检验、组内相关系数[ICC]和 ACE 模型[加性遗传或 A、共同环境或 C 和独特环境或 E 成分]）。遗传率作为 A 成分的百分比变异性来估计。相同的方法应用于按二联体性定义的亚组和独立验证队列。
结果
χ分析比较了单绒毛膜（23、19、16）和双绒毛膜（88、56、48）双胞胎中是否没有、1 个或 2 个发生 BPD，结果无差异。尽管单绒毛膜和双绒毛膜双胞胎的 BPD 结局具有相似性（单绒毛膜 ICC=0.34，95%CI[0.08，0.55]；双绒毛膜 ICC=0.39，95%CI[0.25，0.51]），但单绒毛膜双胞胎发生相同结局的可能性并不高于双绒毛膜双胞胎（P=0.70）。ACE 模型显示遗传对 BPD 风险无贡献（%A=0.0%，95%CI[0.0%，43.1%]）。验证和二联体性队列的结果相似。
结论
我们的分析表明，遗传在<29 周胎龄的早产儿 BPD 风险中不是主要因素。
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