Heinsberg Lacey W, Loia Miracle, Tasele Susie, Faasalele-Savusa Kima, Carlson Jenna C, Anesi Scott, Desobry Katie, Yuchongco Efren, Guevara Brian Fortuno, Sesaga Aigaeiva, Iloilo Alice, Tofaeono Va'atausili, Bryan Kaylynn, Tauasosi-Posiulai Tina, Kershaw Erin E, Conley Yvette P, Weeks Daniel E, Hawley Nicola L, Muasau-Howard Bethel
Department of Health Promotion and Development, School of Nursing, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
medRxiv. 2025 Jun 6:2025.06.04.25329013. doi: 10.1101/2025.06.04.25329013.
Pacific Islanders, including those in American Samoa, face a disproportionately high burden of gestational diabetes mellitus (GDM) and related sequalae of metabolic conditions. The rs373863828 genetic variant, which is uniquely common among Pacific Islanders, has been paradoxically associated with higher body mass index (BMI) but lower risk of type 2 diabetes. While emerging evidence suggests this variant may influence both maternal metabolic outcomes and infant growth, studies in pregnancy and early life remain limited. The purpose of this paper is to describe the protocol for a study designed to address these gaps.
The Health Outcomes in Pregnancy and Early Childhood (HOPE) Study is an observational, longitudinal cohort study that will enroll up to 180 Samoan pregnant women and their infants (target n=150 dyads completing study protocols) in American Samoa, with follow-up through six months postpartum/postnatal. The study includes questionnaires, anthropometric measurements, and biospecimen collection. Genetic and epigenetic analyses will examine associations between maternal and infant rs373863828 genotype, gestational diabetes status, infant body size, and cord blood DNA methylation.
The study is approved by the Institutional Review Boards at the University of Pittsburgh, Yale University, and the American Samoa Department of Health, as well as the Lyndon B. Johnson Tropical Medical Center (American Samoa) Research Oversight Committee. Findings will be disseminated through peer-reviewed publications, conference presentations, and community reports.
太平洋岛民，包括美属萨摩亚的居民，面临着妊娠糖尿病（GDM）及相关代谢疾病后遗症的过高负担。rs373863828基因变异在太平洋岛民中尤为常见，矛盾的是，它与较高的体重指数（BMI）相关，但患2型糖尿病的风险较低。虽然新出现的证据表明这种变异可能会影响母亲的代谢结果和婴儿的生长，但关于孕期和生命早期的研究仍然有限。本文的目的是描述一项旨在填补这些空白的研究方案。
妊娠和幼儿期健康结果（HOPE）研究是一项观察性纵向队列研究，将招募多达180名美属萨摩亚的萨摩亚孕妇及其婴儿（目标为150对完成研究方案），并在产后/出生后六个月进行随访。该研究包括问卷调查、人体测量和生物样本采集。基因和表观遗传学分析将研究母亲和婴儿的rs373863828基因型、妊娠糖尿病状态、婴儿体型和脐带血DNA甲基化之间的关联。
该研究已获得匹兹堡大学、耶鲁大学和美属萨摩亚卫生部的机构审查委员会以及林登·B·约翰逊热带医疗中心（美属萨摩亚）研究监督委员会的批准。研究结果将通过同行评审的出版物、会议报告和社区报告进行传播。
