Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Stanford, California.
Division of Neonatal and Developmental Medicine, Department of Pediatrics, March of Dimes Prematurity Research Center at Stanford University, Stanford University School of Medicine, Stanford, California.
Am J Perinatol. 2019 Dec;36(14):1453-1458. doi: 10.1055/s-0038-1677503. Epub 2019 Jan 23.
To identify single nucleotide polymorphisms (SNPs) associated with clinical chorioamnionitis among preterm infants.
We reanalyzed a genome-wide association study (GWAS) from preterm newborns at less than 30 weeks' gestation. Cases and control definitions were determined using administrative records. There were 213 clinical chorioamnionitis cases and 707 clinically uninfected controls. We compared demographic and clinical outcomes of cases and controls. We performed a GWAS and compared the distribution of SNPs from the background genes and from the immunome genes. We used a Wilcoxon's rank-sum test to compare the SNPs normalized odds ratio and used odds ratios and -values to determine candidate genes.
Infants affected by clinical chorioamnionitis were more likely to have periventricular leukomalacia, high-grade retinopathy, and high-grade intraventricular hemorrhage (IVH). Although a GWAS did not identify SNPs associated with clinical chorioamnionitis at the genome-wide significance level, a direct test on the exonic variants in the human immunome revealed their significant increase of risk in clinical chorioamnionitis.
Among very preterm infants, clinical chorioamnionitis was associated with periventricular leukomalacia, high-grade retinopathy, and IVH. Our analysis of variants in the human immunome indicates an association with clinical chorioamnionitis in very preterm pregnancies.
鉴定与早产儿临床绒毛膜羊膜炎相关的单核苷酸多态性（SNPs）。
我们重新分析了一项来自妊娠 30 周前早产儿的全基因组关联研究（GWAS）。病例和对照组的定义是根据行政记录确定的。共有 213 例临床绒毛膜羊膜炎病例和 707 例临床未感染对照组。我们比较了病例和对照组的人口统计学和临床结局。我们进行了 GWAS，并比较了背景基因和免疫基因组基因的 SNPs 分布。我们使用 Wilcoxon 秩和检验比较了 SNPs 的标准化优势比，并使用优势比和 - 值来确定候选基因。
患有临床绒毛膜羊膜炎的婴儿更有可能患有脑室周围白质软化症、高级别视网膜病变和高级别脑室内出血（IVH）。尽管 GWAS 未在全基因组显著水平上鉴定出与临床绒毛膜羊膜炎相关的 SNPs，但对人类免疫基因组中外显子变体的直接测试表明，它们在临床绒毛膜羊膜炎中的风险显著增加。
在极早产儿中，临床绒毛膜羊膜炎与脑室周围白质软化症、高级别视网膜病变和 IVH 有关。我们对人类免疫基因组中变异的分析表明，在极早产儿妊娠中与临床绒毛膜羊膜炎有关。
