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。
