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

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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.