Center for Epidemiology and Population Health, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Int J Environ Res Public Health. 2020 Sep 29;17(19):7120. doi: 10.3390/ijerph17197120.
Birth defects prevalence may vary seasonally, but previous studies have focused on a few commonly occurring phenotypes. We performed a phenome-wide association study (PheWAS) in order to evaluate the associations between season of conception and a broad range of birth defects. Date of conception was estimated for all livebirths and birth defect cases in Texas from 1999-2015 using data from vital records, provided by the Texas Department of State Health Services Center for Health Statistics. Birth defects diagnoses were obtained from the Texas Birth Defects Registry, a statewide, active surveillance system. We estimated prevalence ratios (PRs) for phenotypes with ≥50 cases according to conception in spring (March-May), summer (June-August) or fall (September-November) relative to winter (December-February), using Poisson regression. Season of conception was associated with 5% of birth defects studied in models adjusted for maternal age, education, race/ethnicity, and number of previous livebirths. Specifically, summer conception was associated with any monitored birth defect (PR 1.03, 95% CI 1.02-1.04) and five specific phenotypes, most notably Hirschsprung disease (PR 1.46, 95% CI 1.22-1.75). These findings suggest that seasonally variable exposures influence the development of several birth defects and may assist in identifying novel environmental risk factors.
出生缺陷的患病率可能存在季节性差异,但之前的研究主要集中在少数常见的表型上。我们进行了一项表型全基因组关联研究(PheWAS),以评估受孕季节与广泛的出生缺陷之间的关联。利用德克萨斯州州务卿健康服务中心人口统计数据,从 1999 年至 2015 年,估算了德克萨斯州所有活产儿和出生缺陷病例的受孕日期。出生缺陷的诊断是从德克萨斯州出生缺陷登记处获得的,这是一个全州性的、主动监测系统。我们根据春季(3 月至 5 月)、夏季(6 月至 8 月)或秋季(9 月至 11 月)受孕与冬季(12 月至 2 月)相比,使用泊松回归,估算了≥50 例病例的表型的患病率比(PR)。在调整了母亲年龄、教育程度、种族/民族和前次活产数的模型中,受孕季节与研究的 5%的出生缺陷有关。具体而言,夏季受孕与任何监测到的出生缺陷(PR 1.03,95%CI 1.02-1.04)和五个特定表型有关,最显著的是先天性巨结肠症(PR 1.46,95%CI 1.22-1.75)。这些发现表明,季节性变化的暴露会影响多种出生缺陷的发生,并可能有助于确定新的环境风险因素。