From the Mary Ann and J. Milburn Smith Child Health Research Program, Children's Memorial Hospital and Children's Memorial Research Center, Chicago, Illinois; the Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; the Division of Biostatistics and Bioinformatics, Institute of Population Health Sciences, National Health Research Institutes, Taiwan; the Department of Biostatistics and Epidemiology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; the Departments of Pediatrics and Obstetrics and Gynecology, Boston University School of Medicine and Boston Medical Center, Boston, Massachusetts; the Department of Obstetrics and Gynecology, North Shore University Health System, Evanston, Illinois; the Department of Obstetrics and Gynecology, Pritzker School of Medicine, University of Chicago, Chicago, Illinois; and the Departments of Human Genetics and Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.
Obstet Gynecol. 2011 Nov;118(5):1081-1089. doi: 10.1097/AOG.0b013e31823389bb.
To estimate whether African ancestry, specific gene polymorphisms, and gene-environment interactions could account for some of the unexplained preterm birth variance within African American women.
We genotyped 1,509 African ancestry-informative markers, cytochrome P450 1A1 (CYP1A1), and glutathione S-transferases Theta 1 (GSTT1) variants in 1,030 self-reported African American mothers. We estimated the African ancestral proportion using the ancestry-informative markers for all 1,030 self-reported African American mothers. We examined the effect of African ancestry and CYP1A1- and GSTT1-smoking interactions on preterm birth cases as a whole and within its subgroups: very preterm birth (gestational age less than 34 weeks); and late preterm birth (gestational age greater than 34 and less than 37 weeks). We applied logistic regression and receiver operating characteristic curve analysis, separately, to evaluate whether African ancestry and CYP1A1- and GSTT1-smoking interactions could make additional contributions to preterm birth beyond epidemiologic factors.
We found significant associations of African ancestry with preterm birth (22% compared with 31%, odds ratio [OR] 1.11, 95% confidence interval [CI] 1.02-1.20) and very preterm birth (23% compared with 33%, OR 1.17, 95% CI 1.03-1.33), but not with late preterm birth (22% compared with 29%, OR 1.06, 95% CI 0.97-1.16). In addition, the receiver operating characteristic curve analysis suggested that African ancestry and CYP1A1- and GSTT1-smoking interactions made substantial contributions to very preterm birth beyond epidemiologic factors.
Our data underscore the importance of simultaneously considering epidemiologic factors, African ancestry, specific gene polymorphisms, and gene-environment interactions to better understand preterm birth racial disparity and to improve our ability to predict preterm birth, especially very preterm birth.
评估非洲血统、特定基因多态性和基因-环境相互作用是否可以解释非裔美国女性早产率中一些无法解释的部分。
我们对 1030 名自我报告的非裔美国母亲进行了 1509 个与非洲血统相关的标记物、细胞色素 P450 1A1(CYP1A1)和谷胱甘肽 S-转移酶 Theta 1(GSTT1)变体的基因分型。我们使用所有 1030 名自我报告的非裔美国母亲的与非洲血统相关的标记物来估计非洲血统的比例。我们检查了非洲血统和 CYP1A1-和 GSTT1-吸烟相互作用对早产病例的总体影响,以及其亚组(妊娠 34 周前的极早产;妊娠 34 至 37 周前的晚早产)。我们分别应用逻辑回归和接收者操作特征曲线分析,评估非洲血统和 CYP1A1-和 GSTT1-吸烟相互作用是否可以在流行病学因素之外对早产做出额外贡献。
我们发现非洲血统与早产(22%比 31%,比值比[OR] 1.11,95%置信区间[CI] 1.02-1.20)和极早产(23%比 33%,OR 1.17,95% CI 1.03-1.33)显著相关,但与晚早产(22%比 29%,OR 1.06,95% CI 0.97-1.16)无关。此外,接收者操作特征曲线分析表明,非洲血统和 CYP1A1-和 GSTT1-吸烟相互作用在流行病学因素之外对极早产有重要贡献。
我们的数据强调了同时考虑流行病学因素、非洲血统、特定基因多态性和基因-环境相互作用的重要性,以更好地理解早产的种族差异,并提高我们预测早产的能力,尤其是极早产的能力。