福建土楼家系队列研究：研究方法及调查对象基线和家系特征

Fujian Tulou Family Cohort Study： study design and characteristics of participants and pedigrees in baseline investigation

目的介绍福建土楼家系队列研究的研究设计、基线调查获得的研究人群特征及家系特征。方法福建土楼家系队列研究为一项建立有生物样本库的前瞻性开放式队列研究。2015－2018年对福建省漳州市南靖县土楼地区人群进行基线调查。≥18岁成年人进行问卷调查、体格检查、生化指标检查和血液样本采集，并登记调查对象的家系关系信息。〈18岁的未成年人仅登记其家系信息。结果基线调查收集了当地土楼聚集区张姓、陈姓氏族的成员，共2 727人参与基线调查，其中成年人2 373人，占87.0%。接受基线调查的成年人中，2 126名完成了问卷调查、体格检查和生化检查，调查对象年龄为（57.9±13.3）岁，男性占39.4%。男性和女性的吸烟率分别为41.2%和2.1%，饮酒率分别为19.0%和2.6%。依据调查资料中调查对象自报二级及以上医院诊断的疾病史、体格检查结果和血生化检测结果，得到常见慢性病的患病率分别为高血压51.3%、糖尿病9.7%、高脂血症26.7%。根据基线调查对象的家系关系信息和族谱资料，共构建710个家系，包含5 087名家系成员。五代、四代、三代和两代家系个数分别为3、88、238、381；含一级亲属12 039对，二级亲属2 662对，三级亲属1 511对，四级亲属202对，五级亲属31对。结论福建土楼家系队列研究的建立为探索常见慢性疾病的遗传危险因素、环境危险因素及二者间的交互作用提供了宝贵的资源。

Objective To describe the study design, the characteristics of participants as well as the pedigrees included in the baseline survey of Fujian Tulou Family Cohort Study.MethodsFujian Tulou Family Cohort Study was a prospective open cohort study with a biological sample bank. A baseline survey was conducted in Tulou areas of Nanjing county in Fujian province from 2015 to 2018, including questionnaire survey, physical and biochemical indicators examinations, and blood sample collection in adults aged ≥18 years. In addition, family relationship of the participants was also recorded. The pedigree information of the juveniles under 18 years old were also collected.Results The baseline survey included 2 727 individuals in two clans, of whom 2 373 （87.0%） were adults, and 2 126 participants completed questionnaires, physical examinations and biochemical tests. The average age of the 2 126 participants was （57.9±13.3） years, with 39.4% being males. The current smoking rates in male and female participants were 41.2% and 2.1%, respectively. The corresponding rates of current alcohol consumption were 19.0% and 2.6%. For common chronic diseases, the prevalence rates were 51.3% for hypertension, 9.7% for diabetes and 26.7% for hyperlipemia according to the self-reported disease diagnoses, health examination results and biochemical examination results in class Ⅱ or Ⅲ hospitals. Based on the family relationship information and genealogical data, 710 pedigrees were finally identified, consisting of 5 087 family members. The numbers of five, four, three, and two generations pedigrees were 3, 88, 238 and 381, respectively. The pairs of the first to the fifth degree relatives were 12 039, 2 662, 1 511, 202 and 31, respectively.Conclusion The establishment of Fujian Tulou Family Cohort provides valuable resources for exploring the genetic risk factors, environmental risk factors and gene-environment interactions contributing to the risk of common chronic diseases.