Contribution of Diet and Genes to Polyunsaturated Fatty Acid Composition
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Contribution of Diet and Genes to Polyunsaturated Fatty Acid Composition Toshiko Tanaka
Published online: 1 December 2010 # Springer Science+Business Media, LLC (outside the USA) 2010
Abstract Dietary recommendations for polyunsaturated fatty acids (PUFA) are based in part on results from epidemiologic studies to determine the level of dietary PUFA required to maintain optimal health. There are many challenges to estimating consumption of fatty acids through dietary surveys. PUFA measured in different biological samples have been used as biomarkers of fatty acid consumption. In addition to diet, variability in blood or tissue PUFA composition is explained in part by genetics. In particular, genetic variations in enzymes involved in the n-3/n-6 metabolic pathway have shown consistent and robust association with PUFA concentrations. Understanding the genetic architecture of fatty acid homeostasis and their relationship to the etiology of complex diseases may shed light on the mechanisms for the protective effects of fatty acids in humans. Keywords Polyunsaturated fatty acids . Dietary assessment . Candidate gene association . Genome-wide association . Fatty acid desaturase . Genetic variation
Introduction Dietary polyunsaturated fatty acid (PUFA) has been linked to pathogenesis of various complex diseases and disease risk factors such as metabolic syndrome [1], cardiovascular disease (CVD) [2–4], and cognitive decline [5]. Intervention studies have also supported the benefits of PUFA T. Tanaka (*) Longitudinal Study Section, Clinical Research Branch, National Institute on Aging, 3001 S. Hanover Street, Baltimore, MD 21225, USA e-mail: [email protected]
consumption. For example, fatty acid supplementation (specifically eicosapentaenoic acid [EPA; C20:5n-3] and/ or docosahexanoic acid [DHA; C22:6n-3]) have been shown to reduce CVD events and mortality [6–8]. However, not all studies show significant effects of fatty acids on disease or disease risk factors [2, 9, 10]. Understanding the factors that contribute to and modify fatty acid concentrations may explain the discrepancies in the study results. Dietary fatty acid is evaluated through single or repeated questionnaires (eg, food diary, food frequency questionnaire) where individuals are required to recall/record their diet for a specified period of time. Although there have been various strides to ensure the accuracy of dietary assessment, there are several limitations with these methods [11–13]. Errors can be introduced when subjects are unable to recall, thus misreporting the frequency or portion size of what they consumed. It has also been shown that there are systematic errors based on characteristics such as age, body mass index (BMI), sex, socio-economic status, health beliefs, psychological factors, and eating habits [11]. The use of dietary biomarkers can avoid many of these limitations because biomarkers are objective measurements of dietary status. Fatty acids can be measured in various biological samples including plasma (or serum), erythrocyte, pla
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