High Throughput Science - Investigating the genetic determinants of healthy ageing: the MRC EPIC-Norfolk study

EPIC-Norfolk研究是一项基于人群的前瞻性队列研究，在1993年至1997年期间从诺福克35家全科诊所招募了25,000名年龄在40-79岁之间的男性和女性。个人提供了包括饮食和活动在内的生活方式行为因素的信息，并参加了基线健康检查，包括提供血液样本以供同时和将来分析。他们同意未来与医疗记录信息联系，并随后对不同疾病终点（包括T2DM事件）进行了广泛的随访研究（见www.srl.cam.ac.uk/epic）。从1998年开始，研究人员再次邀请参与者参加第二次健康检查，其中重复了基线测量，并增加了额外的测量，包括超声测量脚跟骨密度和全身脂肪阻抗评估。2006年至2011年期间，完成了第三次健康检查，其中重点关注功能能力，评估认知、视觉功能和身体表现。目前正在进行第四次健康检查，其中对功能能力进行重复评估（握力、平衡测试、步态速度和椅子站立），同时对身体成分进行客观测量，包括通过DEXA测量瘦肌肉质量，通过加速计（Actigraph）测量身体活动和久坐行为。从所有EPIC参与者中提取了DNA，并对储存的血液进行了广泛的传统和新型生物标志物分析，包括炎症、性激素和营养（如血浆维生素C、D和类胡萝卜素）的测量。一项全基因组关联研究最初是在EPIC-Norfolk的一项肥胖病例队列研究设计中进行的（N= 3552），其中包括2417名个体和1135名肥胖者的随机亚队列。GWAS的覆盖范围现在正在扩大到MRC资助的整个EPIC诺福克队列。

The EPIC-Norfolk study is a prospective population-based cohort study which recruited 25,000 men and women aged 40-79 years at baseline between 1993 and 1997 from 35 participating general practices in Norfolk. Individuals provided information about lifestyle behavioural factors including diet and activity and attended for a baseline health check including the provision of blood samples for concurrent and future analysis. They provided consent to future linkage to medical record information and a wide range of follow-up studies for different disease endpoints (including incident T2DM) have subsequently been undertaken (see www.srl.cam.ac.uk/epic). From 1998, participants were re-invited to attend a second health check at which baseline measures were repeated and additional measurements were added including ultrasound measurement of heel bone density and impedance assessment of total body fat. Between 2006 and 2011 a third health check was completed in which the focus of attention was on functional capacity with assessment of cognition, visual function and physical performance. A fourth health check is currently underway in which assessments of functional capacity are being repeated (grip strength, balance test, gait speed and chair stand) together with objective measurement of body composition including lean muscle mass by DEXA and physical activity and sedentary behaviour by accelerometry (Actigraph).DNA has been extracted from all EPIC participants and stored blood has been analysed for an extensive range of classical and novel biomarkers including measures of inflammation, sex hormones and nutrition (e.g. plasma vitamins C, and D, and carotenoids). A genomewide association study was originally conducted with EPIC-Norfolk in a case-cohort study design for obesity (N= 3552) including a random sub-cohort of 2417 individuals and 1135 obese people. The GWAS coverage is now being expanded to the entire EPIC Norfolk cohort funded by MRC.