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Facultad de Farmacia y Nutrición Nutrigenetic approaches for personalized management of obesity and metabolic syndrome traits Enfoques nutrigenéticos para el tratamiento personalizado de la obesidad y componentes del síndrome metabólico Leticia Goñi Mateos Pamplona, 2017 Facultad de Farmacia y Nutrición Memoria presentada por Dña. Leticia Goñi Mateos para aspirar al grado de Doctor por la Universidad de Navarra. Leticia Goñi Mateos El presente trabajo ha sido realizado bajo nuestra dirección en el Departamento de Ciencias de la Alimentación y Fisiología de la Facultad de Farmacia y Nutrición de la Universidad de Navarra y autorizamos su presentación ante el Tribunal que lo ha de juzgar. Pamplona, 14 de septiembre de 2017 VºBº Director VºBº Co-Director Prof. J. Alfredo Martínez Hernández Dr. Marta Cuervo Zapatel Este trabajo ha sido posible gracias a la financiación de diversas entidades: Gobierno de Navarra (Aditech PT025), Ministerio de Economía y Competitividad (AGL2013-45554-R), Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBERObn) Instituto de Salud Carlos III (ISCIII), Centro de Investigación en Nutrición (Universidad de Navarra). La investigación que ha dado lugar a estos resultados ha sido impulsada por la beca predoctoral 2012-2014 de la Asociación de Amigos de la Universidad de Navarra y las becas predoctoral 2015-2017 y de movilidad del Ministerio de Educación, Cultura y Deporte. A mi familia - AGRADECIMIENTOS / ACKNOWLEDGMENTS - A continuación, quisiera plasmar mi agradecimiento a todas aquellas personas e instituciones que han hecho que hoy esté escribiendo estas líneas. A nivel institucional quisiera agradecer a la Universidad de Navarra y a la Facultad de Farmacia y Nutrición que hace ya 10 años decidió acogerme en sus pasillos, aulas y laboratorios. En especial al Departamento de Ciencias de la Alimentación y Fisiología y al Centro de Investigación en Nutrición por darme la oportunidad de realizar este trabajo. En especial quisiera agradecer al Prof. Alfredo Martínez y a la Dra. Marta Cuervo, los directores de la presente tesis. Mi más sincero agradecimiento a los dos por vuestra atenta supervisión, dedicación, preocupación y confianza puesta en mí. Gracias a los dos por ayudarme en mi formación profesional e investigadora. Además, quisiera agradecer a la Asociación de Amigos de la Universidad de Navarra (beca predoctoral) y al Ministerio de Educación, Cultura y Deporte (beca predoctoral y de movilidad) por la financiación recibida durante estos años de tesis doctoral. Así como a las instituciones que han hecho posible todos los proyectos recogidos en la presente tesis: CINFA, Gobierno de Navarra (ADITECH), Ministerio de Economía y Competitividad, Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBERObn) Instituto de Salud Carlos III (ISCIII). No quisiera dejar de agradecer a todo el personal del Departamento de Ciencias de la Alimentación y Fisiología y/o Centro de Investigación en Nutrición que me han guiado por este camino. En especial y en primer lugar a Fermín por adentrarme en el campo de la genética y la orientación en cada uno de los capítulos de este trabajo. En segundo lugar, a Jose Ignacio, gracias por todos tus consejos siempre acompañados de risas. Y no me olvido de Carlos, Pedro y Marian, gracias por vuestras conversaciones y orientaciones tanto a nivel personal como profesional. También quiero agradecer a todo el equipo del estudio de intervención nutricional incluyendo al personal de la Unidad Metabólica (Blanca, Salomé, María, Angels, Santiago), del CIMA (Fernando, Lourdes, Beatriz) y a la técnico Ana por dejarme “cacharrear” con tanta paciencia en el laboratorio. En especial a Iosune y Laura con las que he logrado crear un gran equipo y que habéis hecho que todo sea alcanzable de la manera más sencilla. Aprovecho estas líneas también para agradecer a nuestro bioinformático Kike, cuanta estadística tenemos que aprender de ti y con cuanto entusiasmo. No quisiera olvidarme de todos los alumnos de máster y grado que posiblemente sin ser conscientes han contribuido en esta tesis: Astrid, Maritza, Miguel, Amanda, Liz, Karleny, Carla, María, Javier, Natalia y Valeria. Gracias a los voluntarios que han participado en cada uno de los estudios aplicados en la presente tesis, quienes tal vez no comprendan claramente que son el centro de nuestro trabajo; sin ellos y sin su esfuerzo este proyecto carece absolutamente de sentido. Gracias a los compañeros y amigos de la sala de ordenadores, a los que se fueron, a los que siguen estando y a los que acaban de llegar. Gracias por vuestros ánimos durante estos intensos años, como todos sabéis pasamos nuestros momentos menos buenos, pero siempre pesan más los buenos. Os deseo lo mejor. Mil gracias al “Granada Team” por compartir tantos momentos juntas, y los que nos quedan… Gracias porque incluso desde la distancia siempre he contado con vuestro apoyo. I whish to express my sincere gratitude to Prof. Lu Qi for having given me the opportunity to work in her team at the Tulane University. Thank you to all her team for the warm welcome. Many thanks for the kind help to Danny and Yoriko. Gracias a mi amig@s por estar siempre conmigo y preguntarme por mis avances y como no, por cuando termino de estudiar! Muy en especial a mi mejor amiga Itziar, por compartir tantos momentos juntas, escuharme y aconsejarme. A Joseba, quien ha sido mi mayor apoyo en todos estos años de tesis. Gracias por esos momentos de locura y desorden que me han permitido desconectar de mi vida profesional y que tanto necesito en mi ordenada vida. Gracias por comprometerte a estar a mi lado y hacerme feliz siempre. Gracias muy especialmente a mi familia. A mis abuelos, tíos y primos quienes sin saber muy bien a que me dedico siempre han estado pendientes de mí. Gracias a mis hermanos Victor y Sara simplemente por estar ahí siempre y también a sus “apegados”. GRACIAS a mis padres, a quienes les dedico este trabajo y les agradezco su apoyo incondicional, escuchándome siempre que lo he necesitado y apoyándome en todas mis decisiones. Por enseñarme a mí y a mis hermanos que el esfuerzo y la constancia permiten alcanzar todo aquello que nos proponemos. GRACIAS - THANK YOU - ESKERRIK ASKO - OBRIGADO -- - LIST OF ABBREVIATIONS - ADA American Diabetes Association AGEN Asian Genetic Epidemiology Network ANCOVA Analysis of the covariance ANOVA Analysis of the variance AUC Area under the curve BIA Bioimpedance BMI Body mass index CARe Candidate Gene Association Resource CH Carbohydrates CT Computed tomography DBP Diastolic blood pressure DXA Dual-energy-X-ray absorptiometry DZ Dizygotic EPIC European Prospective Investigation into Cancer ESC European Society of Cardiology ESH European Society of Hypertension FFQ Food frequency questionnaire FGFQ Food groups frequency questionnaire GIANT Genetic Investigation of Anthropometric Traits Global BPgen Global Blood Pressure Genetics GRS Genetic risk-allele score GWAS Genome wide association study Hb1Ac Glycated hemoglobin HDL High density lipoprotein HPFS Health Professional’s Follow-up Study HWE Hardy-Weinberg equilibrium ICBP International Consortium of Blood Pressure ICC Intraclass correlation coefficient IDF International Diabetes Federation IDL Intermediate density lipoprotein IFG Impaired fasting glucose IGT Impaired glucose tolerance IR Insulin resistance JDRF Juvenile Diabetes Research Foundation JNC7 7th report of the Joint National Committee LARS Least angle regression LDL Low density lipoprotein LOA Limits of agreement MAGIC Meta-Analysis of Glucose and Insulin-Related Traits Consortium MODY Maturity onset diabetes of the young MUFA Monounsaturated fatty acids MZ Monozygotic NDM Neonatal diabetes mellitus NHS The Nurses’ Health Study OGTT Oral glucose tolerance test PA Physical activity POUNDS Lost Preventing Overweight Using Novel Dietary Strategies PUFA Polyunsaturated fatty acids SAT Subcutaneous adipose tissue SBP Systolic blood pressure SD Standard deviation SEEDO Spanish Society for the Study of Obesity SFA Saturated fatty acids SNP Single nucleotide polymorphism VAT Visceral adipose tissue VLDL Very low density lipoprotein WAGR Wilm’s tumor aniridia genitourinary anomalies and mental retardation WGHS Women Genome Health Study WHO World Health Organization - LIST OF ABBREVIATIONS OF GENES – AANAT Aralkylamine N-acetyltransferase ABCC8 ATP binding cassette subfamily C member 8 ACE Angiotensin-converting enzyme ACSL5 Acyl-CoA synthase long-chain family member 5 ADAM17 ADAM metallopeptidase domain 17 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 ADAMTSL3 ADAMTS like 3 ADCY Adenylate cyclase ADIPOR1 Adiponectin receptor 1 ADIPOQ Adiponectin C1Q and collagen domain containing ADRB Adrenoreceptor beta AGBL4 ATP/GTP binding protein like 4 AGT Angiotensinogen AGTR1 Angiotensin II receptor type 1 ALDH2 Aldehyde dehydrogenase 2 family APO Apolipoprotein ARAP1 ArfGAP with RhoGAP domain Ankyrin repeat and PH domain BDNF Brain derived neurotrophic factor BMP2 Bone morphogenetic protein 2 C6orf106 Chromosome 6 open reading frame 106 CADM Cell adhesion molecule CAV2 Caveolin 2 CCK Cholecystokinin CCDC92 Coiled-coil domain containing 92 CD300LG CD300 molecule like family member g CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 CDKN2A/B Cyclin dependent kinase inhibitor 2A/2B CELSR2 Cadherin EGF LAG seven-pass G-type receptor 2 CETP Cholesteryl ester transfer protein CLOCK Circadian regulator CNPY2 Canopy FGF signaling regulator 2 CNR2 Cannabinoid
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