Advances in Food and Nutrition Research 0128171715, 9780128171714

Table of contents :
Content: 1. Genetic determinants of beverage consumption: Implications for nutrition and health / Marilyn C. Cornelis --
2. Current feeding strategies to improve pork intramuscular fat content and its nutritional quality / C.M. Alfaia, P.A. Lopes, M.S. Madeira, J.M. Pestana, D. Coelho, Fidel Toldrá, J.A.M. Prates --
3. Dairy foods and positive impact on the consumer's health / Silvani Verruck, Celso Fasura Balthazar, Ramon Silva Rocha, Ramon Silva, Erick Almeida Esmerino, Tatiana Colombo Pimentel, Monica Queiroz Freitas, Marcia Cristina Silva, Adriano Gomes da Cruz, Elane Schwinden Prudencio --
4. Food-derived bioactive peptides and their role in ameliorating hypertension and associated cardiovascular diseases / Advaita Ganguly, Kumakshi Sharma, Kaustav Majumder --
5. Effects of phytochemicals against diabetes / Merve Bacanli, Sevtap Aydin Dilsiz, Nurşen Başaran, A. Ahmet Başaran --
6. DMHF (2,5-dimethyl-4-hydroxy-3(2H)-furanone), a volatile food component with attractive sensory properties, brings physiological functions through inhalation / K. Arihara, I. Yokoyama, M. Ohata --
7. Challenges and opportunities regarding the use of alternative protein sources : aquaculture and insects / Belén Gómez, Paulo E.S. Munekata, Zhenzhou Zhu, Francisco J. Barba, Fidel Toldrá, Predrag Putnik, Danijela Bursac Kovacevic, José M. Lorenzo --
8. Mycotoxins in food and feed / Jelka Pleadin, Jadranka Frece, Ksenija Markov.

Citation preview

VOLUME EIGHTY NINE

ADVANCES IN FOOD AND NUTRITION RESEARCH

ADVISORY BOARDS David Rodríguez-Lázaro Loong-Tak Lim Michael Eskin Isabel Ferreira Crispulo Gallegos Se-Kwon Kim Keizo Arihara

SERIES EDITORS GEORGE F. STEWART

(1948–1982)

EMIL M. MRAK

(1948–1987)

C. O. CHICHESTER

(1959–1988)

BERNARD S. SCHWEIGERT (1984–1988) JOHN E. KINSELLA

(1989–1993)

STEVE L. TAYLOR

(1995–2011)

JEYAKUMAR HENRY

(2011–2016)

FIDEL TOLDRÁ

(2016– )

VOLUME EIGHTY NINE

ADVANCES IN FOOD AND NUTRITION RESEARCH Edited by

FIDEL TOLDRÁ Instituto de Agroquímica y Tecnología de Alimentos (CSIC), Valencia, Spain

Academic Press is an imprint of Elsevier 50 Hampshire Street, 5th Floor, Cambridge, MA 02139, United States 525 B Street, Suite 1650, San Diego, CA 92101, United States The Boulevard, Langford Lane, Kidlington, Oxford OX5 1GB, United Kingdom 125 London Wall, London, EC2Y 5AS, United Kingdom First edition 2019 Copyright © 2019 Elsevier Inc. All Rights Reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Details on how to seek permission, further information about the Publisher’s permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/permissions. This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein). Notices Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes in research methods, professional practices, or medical treatment may become necessary. Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility. To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. ISBN: 978-0-12-817171-4 ISSN: 1043-4526 For information on all Academic Press publications visit our website at https://www.elsevier.com/books-and-journals

Publisher: Zoe Kruze Acquisition Editor: Sam Mahfoudh Editorial Project Manager: Leticia M. Lima Production Project Manager: Denny Mansingh Cover Designer: Greg Harris Typeset by SPi Global, India

Contents Contributors Preface

1. Genetic determinants of beverage consumption: Implications for nutrition and health

ix xiii

1

Marilyn C. Cornelis 1. Introduction 2. Determinants of beverage consumption 3. Genetic determinants of beverage consumption 4. Implications of genetic knowledge on beverage consumption 5. Conclusions Acknowledgment References Further reading

2. Current feeding strategies to improve pork intramuscular fat content and its nutritional quality

2 3 4 28 35 36 36 52

53

C.M. Alfaia, P.A. Lopes, M.S. Madeira, J.M. Pestana, D. Coelho, F. Toldrá, and J.A.M. Prates 1. Introduction 2. Quality of pork fat and fatty acids 3. Feeding strategies to increase pork intramuscular fat content 4. Feeding strategies to improve pork fatty acid profile 5. Concluding remarks and challenges Acknowledgments References Further reading

3. Dairy foods and positive impact on the consumer’s health

54 55 60 70 84 85 86 94

95

Silvani Verruck, Celso Fasura Balthazar, Ramon Silva Rocha, Ramon Silva, ^nica Queiroz Freitas, Erick Almeida Esmerino, Tatiana Colombo Pimentel, Mo Marcia Cristina Silva, Adriano Gomes da Cruz, and Elane Schwinden Prudencio 1. Introduction 2. Fermented milks

96 98 v

Contents

vi 3. Cheese 4. Butter 5. Ice cream 6. Dairy desserts 7. Conclusions References Further reading

4. Food-derived bioactive peptides and their role in ameliorating hypertension and associated cardiovascular diseases

112 121 132 141 145 145 164

165

Advaita Ganguly, Kumakshi Sharma, and Kaustav Majumder 1. Introduction 2. Pathophysiology of hypertension 3. Food-derived bioactive peptides 4. Structural features of bioactive peptides 5. Molecular mechanisms of food-derived antihypertensive peptides 6. Conclusion References Further reading

5. Effects of phytochemicals against diabetes

166 167 175 183 190 193 193 207

209

Merve Bacanli, Sevtap Aydin Dilsiz, Nurşen Başaran, and A. Ahmet Başaran 1. Introduction 2. Diabetes 3. Diabetes and oxidative stress 4. Phytochemicals 5. Phytochemicals and diabetes 6. Conclusion References

6. DMHF (2,5-dimethyl-4-hydroxy-3(2H)-furanone), a volatile food component with attractive sensory properties, brings physiological functions through inhalation

209 210 211 213 216 229 230

239

K. Arihara, I. Yokoyama, and M. Ohata 1. 2. 3. 4. 5.

Introduction What is the Maillard reaction? Volatile components generated by the Maillard reaction DMHF and foods Physiological functions of odors

240 241 242 244 245

Contents

6. DMHF on physiological parameters through inhalation 7. Conclusions References

7. Challenges and opportunities regarding the use of alternative protein sources: Aquaculture and insects

vii 246 254 254

259

Belen Gómez, Paulo E.S. Munekata, Zhenzhou Zhu, Francisco J. Barba, Fidel Toldrá, Predrag Putnik, Danijela Bursac Kovacevic, and Jos e M. Lorenzo Introduction Aquaculture products nutritional composition Insects nutritional composition Extraction methods to recover proteins Analysis of the extracts Purification and fractionation stages Development of new products based on insect proteins and aquaculture products 8. Challenges and future perspectives of aquaculture products as protein sources 9. Challenges and future perspectives of insects as proteins source Acknowledgments References 1. 2. 3. 4. 5. 6. 7.

8. Mycotoxins in food and feed

260 265 272 278 279 283 284 286 288 289 289

297

Jelka Pleadin, Jadranka Frece, and Ksenija Markov 1. Introduction 2. Properties and division 3. Factors facilitating mycotoxin synthesis 4. Toxicogenic molds 5. Occurrence in food and feed 6. Toxic effects 7. Major groups and representatives 8. Analytical methods 9. Preventative measures 10. Reduction methods 11. Conclusion Acknowledgment References Further reading

298 300 302 305 308 312 314 325 328 331 337 338 338 345

This page intentionally left blank

Contributors C.M. Alfaia Centro de Investigac¸a˜o Interdisciplinar em Sanidade Animal (CIISA), Faculdade de Medicina Veterina´ria, Universidade de Lisboa, Avenida da Universidade T
ecnica, Po´lo Universita´rio do Alto da Ajuda, Lisbon, Portugal K. Arihara School of Veterinary Medicine, Kitasato University, Tokyo, Japan Merve Bacanli Faculty of Pharmacy, Department of Pharmaceutical Toxicology, Hacettepe University, Ankara, Turkey Celso Fasura Balthazar Universidade Federal Fluminense (UFF), Faculdade de Veterina´ria, Nitero´i, Brazil Francisco J. Barba Nutrition and Food Science Area, Preventive Medicine and Public Health, Food Science, Toxicology and Forensic Medicine Department, Faculty of Pharmacy, Universitat de Vale`ncia, Vale`ncia, Spain A. Ahmet Başaran Faculty of Pharmacy, Department of Pharmacognosy, Hacettepe University, Ankara, Turkey Nurşen Başaran Faculty of Pharmacy, Department of Pharmaceutical Toxicology, Hacettepe University, Ankara, Turkey Danijela Bursa
c Kovacevi
c Faculty of Food Technology and Biotechnology, University of Zagreb, Zagreb, Croatia D. Coelho Centro de Investigac¸a˜o Interdisciplinar em Sanidade Animal (CIISA), Faculdade de Medicina Veterina´ria, Universidade de Lisboa, Avenida da Universidade T
ecnica, Po´lo Universita´rio do Alto da Ajuda, Lisbon, Portugal Marilyn C. Cornelis Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States Adriano Gomes da Cruz Instituto Federal de Educac¸a˜o, Ci^encia e Tecnologia do Rio de Janeiro (IFRJ), Departamento de Alimentos, Rio de Janeiro, Brazil Sevtap Aydin Dilsiz Faculty of Pharmacy, Department of Pharmaceutical Toxicology, Hacettepe University, Ankara, Turkey Erick Almeida Esmerino Universidade Federal Fluminense (UFF), Faculdade de Veterina´ria, Nitero´i, Brazil ix

x

Contributors

Jadranka Frece Faculty of Food Technology and Biotechnology, University of Zagreb, Zagreb, Croatia M^ onica Queiroz Freitas Universidade Federal Fluminense (UFF), Faculdade de Veterina´ria, Nitero´i, Brazil Advaita Ganguly Comprehensive Tissue Centre, UAH Transplant Services, Alberta Health Services, Edmonton, AB, Canada Bel
en Go´mez Centro Tecnolo´gico de la Carne de Galicia, Ourense, Spain P.A. Lopes Centro de Investigac¸a˜o Interdisciplinar em Sanidade Animal (CIISA), Faculdade de Medicina Veterina´ria, Universidade de Lisboa, Avenida da Universidade T
ecnica, Po´lo Universita´rio do Alto da Ajuda, Lisbon, Portugal Jos
e M. Lorenzo Centro Tecnolo´gico de la Carne de Galicia, Ourense, Spain M.S. Madeira Centro de Investigac¸a˜o Interdisciplinar em Sanidade Animal (CIISA), Faculdade de Medicina Veterina´ria, Universidade de Lisboa, Avenida da Universidade T
ecnica, Po´lo Universita´rio do Alto da Ajuda, Lisbon, Portugal Kaustav Majumder Department of Food Science and Technology, University of Nebraska-Lincoln, Lincoln, NE, United States Ksenija Markov Faculty of Food Technology and Biotechnology, University of Zagreb, Zagreb, Croatia Paulo E.S. Munekata Centro Tecnolo´gico de la Carne de Galicia, Ourense, Spain; Department of Food Engineering, College of Animal Science and Food Engineering, University of Sa˜o Paulo, Sa˜o Paulo, Brazil M. Ohata College of Bioresource Sciences, Nihon University, Tokyo, Japan J.M. Pestana Centro de Investigac¸a˜o Interdisciplinar em Sanidade Animal (CIISA), Faculdade de Medicina Veterina´ria, Universidade de Lisboa, Avenida da Universidade T
ecnica, Po´lo Universita´rio do Alto da Ajuda, Lisbon, Portugal Tatiana Colombo Pimentel Instituto Federal do Parana´ (IFPR), Campus Paranavaı´, Paranavaı´, Brazil Jelka Pleadin Croatian Veterinary Institute, Laboratory for Analytical Chemistry, Zagreb, Croatia J.A.M. Prates Centro de Investigac¸a˜o Interdisciplinar em Sanidade Animal (CIISA), Faculdade de Medicina Veterina´ria, Universidade de Lisboa, Avenida da Universidade T
ecnica, Po´lo Universita´rio do Alto da Ajuda, Lisbon, Portugal

Contributors

xi

Elane Schwinden Prudencio Universidade Federal de Santa Catarina (UFSC), Departamento de Ci^encia e Tecnologia de Alimentos, Floriano´polis, Brazil Predrag Putnik Faculty of Food Technology and Biotechnology, University of Zagreb, Zagreb, Croatia Kumakshi Sharma Health, Safety and Environment Branch, National Research Council Canada, Edmonton, AB, Canada Marcia Cristina Silva Instituto Federal de Educac¸a˜o, Ci^encia e Tecnologia do Rio de Janeiro (IFRJ), Departamento de Alimentos, Rio de Janeiro, Brazil Ramon Silva Universidade Federal Fluminense (UFF), Faculdade de Veterina´ria, Nitero´i; Instituto Federal de Educac¸a˜o, Ci^encia e Tecnologia do Rio de Janeiro (IFRJ), Departamento de Alimentos, Rio de Janeiro, Brazil Ramon Silva Rocha Universidade Federal Fluminense (UFF), Faculdade de Veterina´ria, Nitero´i; Instituto Federal de Educac¸a˜o, Ci^encia e Tecnologia do Rio de Janeiro (IFRJ), Departamento de Alimentos, Rio de Janeiro, Brazil Fidel Toldra´ Instituto de Agroquı´mica y Tecnologı´a de Alimentos (CSIC), Valencia, Spain Silvani Verruck Universidade Federal de Santa Catarina (UFSC), Departamento de Ci^encia e Tecnologia de Alimentos, Floriano´polis, Brazil I. Yokoyama School of Veterinary Medicine, Kitasato University, Tokyo, Japan Zhenzhou Zhu College of Food Science and Engineering, Wuhan Polytechnic University, Wuhan, China

This page intentionally left blank

Preface This volume of Advances in Food and Nutrition Research compiles eight chapters reporting a variety of interesting topics like the genetic determinants of beverage consumption and its health implications, the current feeding strategies to improve pork intramuscular fat content and its nutritional quality, the impact of dairy foods on consumers’ health, the benefits of food-derived bioactive peptides for hypertension and associated cardiovascular diseases, the effects of phytochemicals against diabetes, the volatile food component DMHF that improves palatability and physiological functions, the use of alternative protein sources from aquaculture and insects, and the occurrence and prevention of mycotoxins in foods. Chapter 1 brings new insights on the genetic determinants of common beverage consumption and how research in this field is contributing insight to what and how much we consume and why this genetic knowledge matters from a research and public health perspective, and also how the genome-wide association studies highlight an important behavior-reward component (as opposed to taste) to beverage consumption which may serve as a potential barrier to dietary interventions. Chapter 2 addresses current feeding strategies to ameliorate pork sensory attributes and nutritional quality by increasing intramuscular fat deposition and improving fatty acid composition, respectively. It also discusses feeding sources of n-3 polyunsaturated fatty acids to pigs, mainly from marine origin (rich in eicosapentaenoic and docosahexaenoic acids), that increase their content in pork, thus improving the health value of its fatty acid profile, and how the inclusion of microalgae and seaweeds in feed represents a promising approach for the maintenance and development of the livestock sector. Chapter 3 brings new insights on the positive impacts of fermented milk, cheese, butter, ice cream, and dairy desserts components on the consumer’s health. A special focus is given to the main mechanisms responsible and essential for a better understanding of nutritional and functional values of the components of milk and dairy products. Chapter 4 presents potent bioactive peptides, especially with antiinflammatory, antioxidant, and angiotensin-converting enzyme-I inhibitory activity, from different food sources as a promising endeavor toward nutraceutical-based dietary management and prevention of hypertension. It also discusses how the understanding of the pathophysiology of hypertension and the action mechanisms of xiii

xiv

Preface

the bioactive peptides would help in the design and characterization of more potent peptides. Chapter 5 focuses on the relationship between diabetes mellitus and preventive roles of various phytochemicals. Some of them such as flavonoids, lignans, and prophenylphenols can play a preventive role on diabetes via their antioxidant properties. Chapter 6 deals with a volatile food component DMHF (2,5-dimethyl-4-hydroxy-3(2H)-furanone), with attractive sensory properties. This substance is an aroma compound, generated in various foods by the Maillard reaction during cooking and processing, that exhibits a strawberry-like flavor when diluted and a caramel-like aroma when concentrated. It brings physiological functions and bioactivity through inhalation. Chapter 7 addresses the potential of insects and products derived from aquaculture as sustainable alternative protein sources. It also discusses major challenges like the need to adapt technologies and methods for the production and well-characterization of the new ingredients, the evaluation of such new proteins in the diet and its safety of use, including potential allergies, and the acceptance by consumers. Finally, Chapter 8 brings the latest developments in mycotoxins in foods. It describes the harmful effects of mycotoxins observed in humans and animals like carcinogenicity, teratogenicity, immune toxicity, neurotoxicity, hepatotoxicity, nephrotoxicity, reproductive and developmental toxicity, indigestion, and so forth. The chapter includes the description of preventative measures capable of reducing the contamination to the minimum as well as methods for mycotoxin reduction or elimination. In summary, this volume presents the combined efforts of 38 professionals developing their research in 8 countries (Canada, USA, Brazil, China, Turkey, Japan, Croatia, Portugal, and Spain) with a variety of backgrounds and expertise. The Editor wishes to thank the production staff and all the contributors for sharing their experience and for making this book possible. FIDEL TOLDRA´ Editor

CHAPTER ONE

Genetic determinants of beverage consumption: Implications for nutrition and health Marilyn C. Cornelis* Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States *Corresponding author: e-mail address: [email protected]

Contents 1. Introduction 2. Determinants of beverage consumption 3. Genetic determinants of beverage consumption 3.1 Early approaches: Linkage and candidate gene analysis 3.2 Recent approaches: Genome-wide analysis 4. Implications of genetic knowledge on beverage consumption 4.1 Research tools 4.2 Public health 5. Conclusions Acknowledgment References Further reading

2 3 4 5 7 28 28 34 35 36 36 52

Abstract Beverages make important contributions to nutritional intake and their role in health has received much attention. This review focuses on the genetic determinants of common beverage consumption and how research in this field is contributing insight to what and how much we consume and why this genetic knowledge matters from a research and public health perspective. The earliest efforts in gene-beverage behavior mapping involved genetic linkage and candidate gene analysis but these approaches have been largely replaced by genome-wide association studies (GWAS). GWAS have identified biologically plausible loci underlying alcohol and coffee drinking behavior. No GWAS has identified variants specifically associated with consumption of tea, juice, soda, wine, beer, milk or any other common beverage. Thus far, GWAS highlight an important behavior-reward component (as opposed to taste) to beverage consumption which may serve as a potential barrier to dietary interventions. Loci identified have been used in Mendelian randomization and gene
beverage interaction analysis of disease

Advances in Food and Nutrition Research, Volume 89 ISSN 1043-4526 https://doi.org/10.1016/bs.afnr.2019.03.001

#

2019 Elsevier Inc. All rights reserved.

1

Marilyn C. Cornelis

2

but results have been mixed. This research is necessary as it informs the clinical relevance of SNP-beverage associations and thus genotype-based personalized nutrition, which is gaining interest in the commercial and public health sectors.

1. Introduction Water is an essential nutrient for life ( J
equier & Constant, 2009). Beverages contribute approximately 80% to total water intake with the remainder provided by solid foods (EFSA, 2010; Electrolytes & Water, 2005). After water, coffee, tea, beer, milk, 100% juice, sugar sweetened beverages (SSB) and wine are among the most widely consumed beverages in the world (Euromonitor, 2018; Neves, Trombin, Lopes, Kalaki, & Milan, 2012; Singh et al., 2015). Unlike plain water, beverages are also important sources of energy, other vitamins and minerals as well as 1000s of non-nutrients, many of which are bioactive. Coffee and tea, for example, are naturally energy-free but important sources of caffeine and polyphenols. Beer and wine both contain alcohol but also present with unique constituents including hops and resveratrol, respectively. Juice and SSB are both energy dense but the former is also a natural source of vitamins. With their wide consumption and contributions to nutrient intake there is great interest in the role beverages play in health. Epidemiological studies support a beneficial role of moderate coffee intake in reducing risk of several chronic diseases but heavy intake is likely harmful on pregnancy outcomes (Poole et al., 2017). Tea might also reduce risk of type 2 diabetes (T2D), metabolic syndrome (MetS) (Marventano et al., 2016; Yang, Mao, Xu, Ma, & Zeng, 2014), osteoporosis (Sun et al., 2017) and cardiovascular diseases (CVD) (Pang et al., 2016). Wine drinking may have a dose-dependent association with health: low doses might protect against breast cancer and CVD while high doses offer no benefit or increased risk (Chen et al., 2016; de Gaetano, Di Castelnuovo, Rotondo, Iacoviello, & Donati, 2002). Health benefits or risks specific to beer and milk are unclear (Gijsbers et al., 2016; Guo et al., 2017; Kaplan, Palmer, & Denke, 2000; Larsson, Crippa, Orsini, Wolk, & Michaelsson, 2015; Lee, Fu, Chung, Jang, & Lee, 2018; Li et al., 2011; Liu et al., 2015; Mullie, Pizot, & Autier, 2016; Soedamah-Muthu et al., 2011). There are currently no health benefits to SSB consumption but rather convincing data supporting its role in obesity which is, in turn, a risk factor for several diseases

Genetic determinants of beverage consumption

3

(Malik et al., 2010; Malik, Schulze, & Hu, 2006). A caveat to our knowledge pertaining to beverage consumption and human health is that much of it is derived from epidemiological studies which have limitations (Rothman, Greenland, & Lash, 2008; Taubes, 1995; Willett, 1998). This review focuses on the genetic determinants of common beverage consumption and how research in this field is contributing insight to what and how much we consume and why this genetic knowledge matters from a research and public health perspective.

2. Determinants of beverage consumption Understanding factors contributing to beverage consumption has important public health and research implications. Knowledge of both external and internal cues for beverage intake may inform the causal role each beverage has in health (research) and the potential population subgroups most susceptible to the health consequences of its regular consumption (public health). Thirst is an important determinant of beverage intake, but in today’s society the amount and choice of beverage consumed is governed by a multitude of individual and societal factors such as availability, mood, social context, health status, education, convenience, cost, cultural influences, and sensory attributes such as smell and taste (Block, Gillman, Linakis, & Goldman, 2013; Drewnowski, 1997; Drewnowski, Henderson, Levine, & Hann, 1999; Glanz, Basil, Maibach, Goldberg, & Snyder, 1998; Neumark-Sztainer, Story, Perry, & Casey, 1999; Wardle, Carnell, & Cooke, 2005). Consumption of coffee, for example, tends to positively correlate with age, smoking, and alcohol consumption and may also be impacted by perceived health consequences of the beverage (Cornelis, 2012). Degree of economic development, religious and cultural norms, the availability and the level and effectiveness of policies are societal factors contributing to alcohol consumption behaviors while age, gender, social economic status (SES) and prior alcohol exposure are important individual level factors (Babor et al., 2010). The acute positive or negative reinforcing properties of alcohol and caffeine are especially important in determining alcoholic beverage and coffee drinking patterns (Cornelis, 2012; Koob & Volkow, 2016; Kuntsche, Knibbe, Gmel, & Engels, 2005). Physiological effects of beverages are intrinsic and often vary between individuals. Genetics also play a role in beverage consumption behavior and more likely with regards to these physiological effects.

4

Marilyn C. Cornelis

3. Genetic determinants of beverage consumption Twin studies have largely been the standard approaches to estimating the genetic or heritable component of beverage consumption behaviors which can vary from 0 (not heritable) to 1 (completely inherited). Twin studies estimate heritability by comparing monozygotic twins, who share the common environment and have identical genetics, to dizygotic twins, who also share the common environment but only half their genetics (Neale & Cardon, 1994; Turkheimer, D’Onofrio, Maes, & Eaves, 2005). In an earlier twin study by de Castro (1993), the heritability estimate for amount of drinking water consumed was 0.43, which was slightly higher than the 0.37 estimate for total water (food and beverages). Heritability estimates for alcohol, soda, milk, coffee and fruit juice were 0.45, 0.54, 0.04, 0.69 and 0.12, respectively. Hasselbalch et al. (2010) reported lower estimates for soda: 0.26 and 0.30 for men and women, respectively, while Teucher et al. (2007) reported a much higher estimate for fruit juice (0.70). Heritability estimates for self-reported total caffeine intake (derived from caffeine-containing coffee, tea and soda) ranged between 0.30 and 0.58, with higher estimates reported for heavy use (up to 0.77) (Yang, Palmer, & de Wit, 2010). Studies that separated heritability estimates by caffeine source report higher heritability for coffee relative to other sources (Luciano, Kirk, Heath, & Martin, 2005; Teucher et al., 2007; Vink, Staphorsius, & Boomsma, 2009). Twin studies as well as family and adoption studies of habitual alcohol consumption or alcoholism have largely focused on males and report heritability estimates between 0.30 and 0.60 (McGue, 1999; Prescott & Kendler, 1999; Reed et al., 1994; Teucher et al., 2007). Heath and Martin (1988) propose that the decision to abstain from drinking is not genetically determined, but the onset and amount consumed once that decision is made are influenced by genetic factors. Twin studies are powerful epidemiological approaches to measuring the contribution of genetics to a given trait but are often underpowered and subject to bias which likely add to between study differences in estimates of heritability (Kendler, 1993; Zaitlen & Kraft, 2013; Zuk, Hechter, Sunyaev, & Lander, 2012). Furthermore, although results above provide compelling evidence for a genetic influence on beverage intake and choice, they do not indicate the specific genes that increase or decrease drinking behaviors.

Genetic determinants of beverage consumption

5

3.1 Early approaches: Linkage and candidate gene analysis The earliest efforts in gene-trait mapping involved genetic linkage and candidate gene analysis. Genetic linkage studies determine inheritance of a binary or quantitative trait among family members in extensive pedigrees by evaluating whether one or more genetic markers spaced across the 23 chromosomes segregate with the trait (Cantor, 2014). This approach roughly locates a broad chromosomal region, which may contain 10s of 100s of genes, that co-segregate with the trait. Other strategies such as fine mapping and targeted association analysis must be used to further refine the linked region and identify the gene of interest (Cantor, 2014). Lactose intolerance (or lactase non-persistence) is a common autosomal recessive condition resulting from the physiological decline in activity of lactase-phlorizin hydrolase (LPH) in intestinal cells after weaning and has a significant impact on milk drinking behavior. The age of onset varies between populations and in some populations lactase activity persists at a high level throughout adult life (Sahi, 1994; Sahi, Isokoski, Jussila, & Launiala, 1972; Swallow, 2003; Wang et al., 1998). Although the sequence of the lactase gene (LCT, encoding LPH) had been known since 1991 (Boll, Wagner, & Mantei, 1991), the causative mechanism for lactase persistence remained elusive until 2002 when a linkage analysis of nine Finnish families with hypolactasia identified a variant upstream of the initiation codon of LCT (LCT-13910C> T) which demonstrated complete association with lactase persistence (Enattah et al., 2002). The first linkage studies on alcohol dependence (AD) from the familybased Collaborative Study on the Genetics of Alcoholism (COGA) (Reich et al., 1998) and a sib-pair study from a Southwest American Indian tribe (Long et al., 1998) reported a broad risk locus on chromosome 4q that contains the genes that encode the isoforms of alcohol dehydrogenase (ADH). Hill et al. (2004) reported support for AD loci at chromosome 1q23.3-q25.1 in a genome-wide linkage analysis of double probands. This region was followed up using fine-mapping genotyping and confirmed single nucleotide polymorphism (SNP)-AD associations within ASTN1 (Hill, Weeks, Jones, Zezza, & Stiffler, 2012). Additional AD studies have implicated other chromosomal regions (Dick et al., 2010; Edenberg & Foroud, 2014; Wang et al., 2004). The genetic linkage approach, to the author’s knowledge, has not been applied to habitual beverage consumption. A second approach to isolating genetic determinants of a trait involves genetic association in population or family-base studies and is essentially a

6

Marilyn C. Cornelis

form of linkage mapping but is allele-based rather than locus-based and is often hypothesis driven. Efforts focus on potentially functional SNPs in genes with biological plausibility or in regions identified by linkage. In the context of beverage consumption behavior a highly implicated pathway pertains to taste. Taste is one of the primary means of determining the acceptability of a food and might have been critical to the survival of early human subjects (Tepper, 2008). The perception of sweet, umami and bitter tastes is all mediated via G-coupled protein receptors, encoded by the TAS1R and TAS2R taste receptor gene families, while salty and sour tastes are transduced via ion channels (Wise, Hansen, Reed, & Breslin, 2007). There is little known regarding genetic variation in salty and sour tastes (Wise et al., 2007). In contrast, bitter taste quality is affected by variants in TAS2R16, TAS2R38, TAS2R43 and TAS2R44 while variants in TAS1R1 and TAS1R3 impact umami and sweet (Drayna, 2005; Feeney, O’Brien, Scannell, Markey, & Gibney, 2011; Kim et al., 2003; Mainland & Matsunami, 2009; Shigemura, Shirosaki, Sanematsu, Yoshida, & Ninomiya, 2009). The most studied is TAS2R38, in particular its three SNPs, which result in two common haplotypes that are named for their amino acid substitutions: PAV (proline, alanine, and valine) and AVI (alanine, valine, and isoleucine) (Kim, Breslin, Reed, & Drayna, 2004). TAS2R38 diplotype influences the ability to taste a family of bitter compounds including phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP). Although these compounds are not found in food stuffs naturally, PTC/PROP-related compounds are present in several bitter tasting fruits and vegetables. PAV homozygotes and heterozygotes perceive greater bitterness than AVI homozygotes that perceive little or no bitterness (Kim et al., 2004). This locus has been subject to numerous association studies of food and beverage preferences. Variation in TAS2R38 has been linked to coffee, beer, spirits, green tea, sugar content of beverages and total alcohol or drinking status (Beckett et al., 2017; Choi, Lee, Yang, & Kim, 2017; Duffy et al., 2004; Hayes et al., 2011; Mennella, Pepino, & Reed, 2005; Ong et al., 2018; Ooi, Lee, Law, & Say, 2010; Perna et al., 2018; Ramos-Lopez et al., 2015; Wang et al., 2007). Variation in other TASR2 members has also been linked to bitter beverage consumption (Cornelis, 2012; Hayes et al., 2011; Ong et al., 2018; Pirastu et al., 2014; Wang et al., 2007). Most of these findings, however, lack replication. Although bitterness is widely claimed to be an evolutionarily important indicator of toxicity (Behrens & Meyerhof, 2016; Drewnowski & Gomez-Carneros, 2000) not all bitter stimuli are toxic (Glendinning, 1994; Nissim,

Genetic determinants of beverage consumption

7

Dagan-Wiener, & Niv, 2017). Coffee and beer are prime examples whereby the innate eversion to bitter taste does not hold. Indeed, variants in TAS2R43 linked to increased perception of caffeine, a bitter compound, associate with increased coffee consumption and liking according to candidate-SNP analysis (Ong et al., 2018; Pirastu et al., 2014). Although coffee bitterness is easily offset by additives, some individuals may also learn to associate this sensory cue with social context or postingestive signals elicited by biologically active constituents of coffee. Variation in the TAS1R sweet and umami receptor family has also been linked to alcohol consumption behavior (Choi et al., 2017), wine drinking (Choi et al., 2017) and vodka liking (Pirastu et al., 2012). Besides taste-related genes, the candidate approach for alcohol-related traits has additionally focused on alcohol metabolism genes including ADH, CYP2E1 and ALDH (Fig. 1), as well as gene members of several neurotransmitter systems: GIRK1, GABA-A, DRD2, SLC6A3, SLC6A4, TPH1, COMT, CHRM2 and OPRM1 (Edenberg & Foroud, 2006; Matsuo et al., 2006; Reilly, Noronha, Goldman, & Koob, 2017; Tawa, Hall, & Lohoff, 2016). For coffee and tea drinking, candidate genes involved in caffeine metabolism (CYP1A2) and caffeine’s target of action (ADORA2A, DRD2) have been examined (Cornelis, 2012; Cornelis, El-Sohemy, & Campos, 2007). Gene members of the brain reward system, particularly DRD2, have been tested for associations with SSB (Baik, 2013; Eny, Corey, & El-Sohemy, 2009; Ramos-Lopez, Panduro, RiveraIn˜iguez, & Roman, 2018).

3.2 Recent approaches: Genome-wide analysis With the human genome sequenced in the early 2000’s and mapped frequencies and patterns of association among millions of common SNPs in diverse populations, the primary approach to identifying genetic variants for complex traits has quickly transitioned to genome-wide association

Fig. 1 Alcohol metabolism.

8

Marilyn C. Cornelis

studies (GWAS). GWAS is based on the premise that a causal variant is located on a haplotype, and therefore a marker allele in linkage disequilibrium (LD) with the causal variant should present with an association with a trait of interest (Hirschhorn & Daly, 2005). This approach is unbiased with respect to genomic structure and previous knowledge of the trait etiology, which contrasts with earlier approaches, and therefore has greater potential to reveal novel gene-trait associations. Table 1 provides descriptions of GWAS listed in the GWAS catalog (November 26, 2018) reporting significant SNP-drinking behavior associations. GWAS designs included single sample, 2-stage (i.e., discovery and replication) and meta-analysis. Table 2 presents those loci defined as significant according to authors’ a priori threshold. Results of GWAS of AD and beverage “liking” were also included. 3.2.1 Alcohol Successful GWAS of alcohol-related traits have been undertaken in European, African American, Asian and Hispanic Latino populations. Most of these targeted AD and included study samples with a high proportion of individuals with comorbid psychiatric disorders and/or co-occurring drug dependence. Several efforts report null findings (Heath et al., 2011; Kapoor et al., 2014; Lydall et al., 2011; Mbarek et al., 2015; McGue et al., 2013; Zuo et al., 2012), but inability to replicate some loci may be a function of both case and control ascertainment (Frank et al., 2012; Mailman et al., 2007). Most robust are associations with potentially functional SNPs that alter alcohol metabolism (Fig. 1). For example, the ADH1B rs1229984 T allele (48His) results in a 40- to 100-fold higher rate of alcohol to acetaldehyde metabolism (i.e., ethanol oxidation) (Edenberg, 2000; Hurley, Bosron, Stone, & Amzel, 1994). The ALDH2 rs671 A allele (504Lys) reduces ALDH2 activity and thus decreases acetaldehyde to acetate metabolism (i.e., acetaldehyde oxidation) (Bosron & Li, 1986; Enomoto, Takase, Yasuhara, & Takada, 1991; Harada, Misawa, Agarwal, & Goedde, 1980; Quillen et al., 2014). Acetaldehyde is a toxic substance whose accumulation leads to a highly aversive reaction that includes facial flushing, nausea, and tachycardia. The ADH1B His and ALDH2 Lys variants influence alcohol drinking behavior by elevating blood acetaldehyde levels upon alcohol drinking which ultimately reduces susceptibility to developing alcohol drinking problems (Macgregor et al., 2009; Peng et al., 2010; Takeuchi et al., 2011; Yokoyama et al., 2008).

Table 1 Genome-wide association studies of beverage consumption reporting significant loci. Reference

Phenotype

Phenotype defined

Baik, Cho, Kim, Han, and Shin (2011)

Alcohol drinking

Takeuchi et al. (2011)

Study design

N

Race

Self-reported alcohol consumption among ever Discovery drinkers Questionnaire, alcohol g/day in the past month, Population-based males derived

1721

Korean

Alcohol Use Disorder (NULL)

Alcohol Use Disorder Identification Test (AUDIT) score: