Almqvist Catarina, Örtqvist Anne K, Ullemar Vilhelmina, Lundholm Cecilia, Lichtenstein Paul, Magnusson Patrik K E
Department of Medical Epidemiology and Biostatistics,Karolinska Institutet,Stockholm,Sweden.
Twin Res Hum Genet. 2015 Jun;18(3):273-80. doi: 10.1017/thg.2015.17. Epub 2015 Apr 22.
Asthma is a common childhood disease and several risk factors have been identified; however, the impact of genes and environment is not fully understood. The aim of the Swedish Twin study On Prediction and Prevention of Asthma (STOPPA) is to identify environmental (birth characteristics and early life) and genetic (including epigenetic) factors as determinants for asthmatic disease. Based on the Child and Adolescent Twin Study in Sweden (CATSS) (parental interview at 9 or 12 years, N ~23,900) and an asthma and/or wheezing algorithm, we identified a sample of monozygotic (MZ) and dizygotic (DZ) same-sexed twin pairs. The twin pairs were classified as asthma concordant (ACC), asthma discordant (ADC) and healthy concordant (HCC). A sample of 9- to 14-year-old twins and their parents were invited to participate in a clinical examination. Background characteristics were collected in questionnaires and obtained from the National Health Registers. A clinical examination was performed to test lung function and capacity (spirometry with reversibility test and exhaled nitric oxide) and collect blood (serology and DNA), urine (metabolites), feces (microbiota), and saliva (cortisol). In total, 376 twin pairs (752 individual twins) completed the study, response rate 52%. All participating twins answered the questionnaire and >90% participated in lung function testing, blood-, and saliva sampling. This article describes the design, recruitment, data collection, measures, and background characteristics, as well as ongoing and planned analyses in STOPPA. Potential gains of the study include the identification of biomarkers, the emergence of candidates for drug development, and new leads for prevention of asthma and allergic disease.
哮喘是一种常见的儿童疾病，已确定了多种风险因素；然而，基因和环境的影响尚未完全明确。瑞典哮喘预测与预防双胞胎研究（STOPPA）的目的是确定环境因素（出生特征和早期生活）和基因因素（包括表观遗传因素）作为哮喘疾病的决定因素。基于瑞典儿童和青少年双胞胎研究（CATSS）（在9岁或12岁时对父母进行访谈，样本量约23,900）以及哮喘和/或喘息算法，我们确定了单卵（MZ）和双卵（DZ）同性双胞胎对样本。这些双胞胎对被分为哮喘一致（ACC）、哮喘不一致（ADC）和健康一致（HCC）。邀请了9至14岁的双胞胎及其父母样本参加临床检查。背景特征通过问卷收集，并从国家健康登记处获取。进行临床检查以测试肺功能和容量（进行可逆性测试的肺活量测定和呼出一氧化氮），并采集血液（血清学和DNA）、尿液（代谢物）、粪便（微生物群）和唾液（皮质醇）。共有376对双胞胎（752名个体双胞胎）完成了研究，应答率为52%。所有参与的双胞胎都回答了问卷，超过90%的人参与了肺功能测试、血液和唾液采样。本文描述了STOPPA的设计、招募、数据收集、测量方法、背景特征，以及正在进行和计划中的分析。该研究的潜在收益包括确定生物标志物、出现药物开发的候选对象，以及预防哮喘和过敏性疾病的新线索。
