Age, Gene/environment Susceptibility Study In Iceland - Ocular Component

年龄基因/环境易感性-雷克雅未克研究（AGES）被认为是一项横断面研究，通过重新检查1967年建立的冰岛雷克雅未克队列，评估候选基因的相对贡献和老年常见疾病的相互关系。这是冰岛心脏协会（IHA）和NIA之间的合作项目（根据合同机制资助）。其他NIH研究所（NIDCD，NHLBI，NINDS和NEI）也增加了组件。 在研究开始时，目标人群是雷克雅未克研究队列的大约9，500名幸存成员（当时年龄在65-94岁之间），其中8，000人将在三次诊所访问中接受完整的诊所检查，1，500名非常年老或身体虚弱的人将在家中接受改良的检查。2002年9月开始入组主研究。需要三次单独访视来完成广泛的研究测试组合。三次研究访视同时进行，三次访视中的每一次均计划在约两个月的时间窗内进行。2002年12月，NEI增加了一个眼睛组件。由于财政限制，招聘于2006年结束，比计划提前。有5 764名冰岛老年人参加。 可获得来自队列先前检查的详细健康和医疗信息以及储存的血清和其他生物标本。本研究关注的表型包括：神经认知疾病（痴呆、抑郁、神经感觉特征）、心血管健康（动脉粥样硬化、动脉扩张性、心室和瓣膜疾病）、肌肉骨骼疾病（脊柱和髋关节骨质疏松、关节骨关节炎、力量和功能）以及身体组成和代谢疾病（肥胖、肌肉减少症、高血糖症、糖尿病）。眼睛部分包括敏锐度评估和通过两只眼睛中的散瞳拍摄的视网膜的眼底和黄斑区域的数字图像。 该项目的一个目的是估计视网膜表型的患病率，特别是年龄相关性黄斑变性和糖尿病视网膜病变，在这个老年人队列，并确定是否特定的遗传谱增加病理风险。也许更大的兴趣，是丰富的机会，探索模式之间的多种表型和多种基因型，影响整体健康的老年人。例如，在视网膜血管中观察到的血管现象是否与身体其他部位的血管变化相关，是否涉及相同的基因？血脂的循环测量是否预示着体内其他部位（包括视网膜和大脑）的脂质沉积，这些模式是正常衰老的一部分还是疾病的标志？在这个老龄化群体中，人们的神经感觉特征是什么？它如何影响身体或认知能力？是否有遗传或生活方式因素可以降低风险？ 对AGES队列进行了临床事件和生存随访。一组AGES幸存者在2008年至2011年期间进行了纵向随访。选定的AGES参与者的成年后代正在参与2014-2015年的辅助研究。 2009年，使用Illumina 370 CNV BeadChip阵列对AGES参与者的一个亚组进行了基因分型。外显子组芯片基因分型数据于2013年可用。 有关AGES概念框架的更多信息，请参阅年龄，基因/环境易感性-雷克雅未克研究：多学科应用表型组学。Harris TB，Launer LJ，Eiriksdottir G，Kjartansson O，Jonsson PV，Sigurdsson G，Thorgeirsson G，Aspelund T，Garcia ME，Cotch MF，霍夫曼HJ，Gudnason V.Am J Epidemiol. 2007年5月1日;165（9）：1076-87。Epub 2007 Mar 10. PMID：17351290 PubMed -检索MEDLINE免费PMC文章。

The Age Gene/Environment Susceptibility -Reykjavik Study (AGES) was conceived as a cross-sectional study to assess the relative contribution of candidate genes and interrelationships of diseases common in old age by reexamining the Icelandic Reykjavik Cohort established in 1967. This is a collaborative project between the Icelandic Heart Association (IHA) and the NIA (funded under a contract mechanism). Other NIH Institutes (NIDCD, NHLBI, NINDS, and NEI) have added components also. At the study outset, the target population was to be the roughly 9,500 surviving members of the Reykjavik Study Cohort (then ages 65-94) of whom up to 8,000 would undergo a complete clinic examination over three clinic visits and 1,500 of the very old or physically frail would undergo a modified examination in their home. Enrollment into the main study began in September 2002. Three separate visits were required to complete the extensive battery of study testing. The three study visits were run concurrently and each of the three visits was scheduled to occur within an approximately two month window. In December 2002, the NEI added an ocular component. Recruitment ended in 2006, earlier than planned, due to fiscal constraints. Enrolled are 5,764 elderly Icelanders. Detailed health and medical information from previous examinations of the cohort as well as stored serum and other biologic specimens are available. Phenotypes of interest for the study include: neurocognitive conditions (dementia, depression, neurosensory profile), cardiovascular health (atherosclerosis, arterial distensibility, ventricular and valvular disease), musculoskeletal conditions (spine and hip osteoprosis, joint osteoarthritis, strength and function), and body composition and metabolic disease (obesity, sarcopenia, hyperglycemia, diabetes). The eye component included an acuity assessment and capturing digital images of the fundus and macular regions of the retina as taken through dilated pupils in both eyes. An objective of this project is to estimate the prevalence of retinal phenotypes, particularly age-related macular degeneration and diabetic retinopathy, in this elderly cohort and determine whether specific genetic profiles increase risk of pathology. Of perhaps greater interest, is the rich opportunity to explore patterns among multiple phenotypes and multiple genotypes that influence overall health in the elder years. For example, do vascular phenomena observed in retina vessels correlate with vascular changes elsewhere in the body and are the same genes involved? Are circulating measures of lipid predictive of lipid deposits elsewhere in the body, including the retinal and brain, and are these patterns part of normal aging or indicative of disease? What is the neurosensory profile of people in this aging cohort, how does it affect physical or cognitive ability, and are there genetic or lifestyle factors which mitigate risk? The AGES cohort has been followed for clinical events and survival. A group of AGES survivors were re-examined in a longitudinal follow-up between 2008 and 2011. Adult Offspring of selected AGES participants are participating in an ancillary study in 2014-2015. DNA on a subgroup of the AGES participants was genotyped in 2009 using an Illumina 370CNV BeadChip array. Exome chip genotyping data became available in 2013. For addition information about the conceptual framework for AGES, consult Age, Gene/Environment Susceptibility-Reykjavik Study: multidisciplinary applied phenomics. Harris TB, Launer LJ, Eiriksdottir G, Kjartansson O, Jonsson PV, Sigurdsson G, Thorgeirsson G, Aspelund T, Garcia ME, Cotch MF, Hoffman HJ, Gudnason V.Am J Epidemiol. 2007 May 1;165(9):1076-87. Epub 2007 Mar 10. PMID: 17351290 PubMed - indexed for MEDLINE Free PMC Article.