Methods for nutritional epidemiology and genetics

Course objectives

General goals The course has the following objectives: 1) student should learn the main topics related to nutritional epidemiological studies and the analysis of data obtained from such studies, and to address both theoretical issues (sources of bias and confounding and correction methods, causal inference, nutritional survey data analysis with complex sample design) and practical issues (study design, food composition/dietary assessment), as well as acquire the ability to analyse a nutritional database already processed. 2) students should learn the main topics of molecular, quantitative and population genetics, in particular gain a clear understanding of the main theoretical probabilistic and statistical principles underlying the transmission of genetic inheritance and how these should be taken into account in the design of genetic epidemiology studies. Knowledge and understanding At the end of the course, the student is expected to 1) be able to describe the main study designs adopted in nutritional epidemiology and their relative advantages and disadvantages. 2) understand how bias and confounding impact nutritional studies, understand the problems associated with the breakdown of foods/nutrients into calories and the importance of using the elements of the complex sample design when present. 3) understand the mathematical and statistical bases of genetics (molecular, quantitative and population) and in particular the Hardy-Weinberg principle Applying knowledge and understanding 1) Be able to apply the main techniques of correction for measurement error and confounding to nutritional epidemiology studies; be able to apply simple dimension reduction methods to summarize information from numerous nutrients or food consumption timeslots. 2) Be able to apply simple genetic probabilistic and statistical models to calculate the probability of familial transmission of an allele, genotype and phenotype for simple kinship relationships and understand the decomposition of the variance of a trait into its genetic and environmental components Making judgements 1) Understand what type of genetic risk estimate may be obtained depending on the study design/type of trait/disease of reference 2) Critically evaluate the assumptions underlying the application of methods of adjustment for confounding in the nutritional and genetic fields Communication skills 1) Be able to communicate with nutrition/sociodemography/health experts to elicit the relationships between variables and construct a causal diagram (DAG) 2) Know how to interpret the effect of measurement error in nutritional studies and the interaction/effect modification between genetic and environmental factors Learning skills At the end of the course the student will have developed the conceptual and quantitative bases of nutrition and genetics to be able to address nutritional epidemiology and genetics problems other than those covered in the course, which may be illustrated in the course as case studies ( for example studies on complex dietary patterns or rare genetic diseases and/or those linked to mitochondrial DNA)

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LUIGI PALLA Lecturers' profile

Program - Frequency - Exams

Course program
PART ONE: Introduction to nutritional epidemiology and its fundamental concepts (risk measures, association and causality, bias and confounding); The main study designs in nutritional epidemiology: dietary surveys, cross-sectional and longitudinal studies, and types of nutrition questionnaires: repeated diet diaries, 24-hour recall questionnaire, food frequency questionnaire. Measurement errors/bias in nutritional epidemiology. Exposure variables obtained through dimension reduction methods (principal components analysis, cluster analysis). The causal approach to data analysis and an introduction to causal inference in epidemiological studies. Specification of causal relationships between observed variables using Directed Acyclic Graphs (DAGs). Introduction/use of propensity scores and instrumental variables in epidemiology. Introduction to the statistical software Stata and case study applications on chrononutrition and circadian rhythms: the role of time of day and regularity of diet in nutrition and health. PART TWO: Basic concepts of molecular genetics: DNA, chromosomes, mitosis, meiosis. Transmission of genetic inheritance : Mendel's laws (segregation and independent assortment), phenotype and genotype, recessive and dominant loci and alleles, penetrance, single-factor crosses, crosses with two or more genes, gene interaction (epistasis) and pleiotropic effects; chromosomal crossover, recombination, and genetic linkage. Genetics of quantitative traits: the debate between biometricians and Mendelians and R.A. Fisher's contribution to statistical theory in genetics, the concept of heredity (in the broad and narrow sense) and the components of genetic variability. Population genetics and statistical foundations of population genetic equilibrium: population evolution and gene and genotype frequencies: the Hardy-Weinberg equilibrium. Evolutionary forces that alter equilibrium: mutation, natural selection, migration. Main study designs in human genetic epidemiology. Genes as instrumental variables in causal inference: an introduction to Mendelian randomization. Critical reading of relevant articles.
Prerequisites
Knowledge of basic statistics, multivariate statistics, probability and regression models (linear and logistic). Preferably some notions of mixed models and of complex survey sampling (not compulsory)
Books
Nutritional Epidemiology by Walter Willett, Oxford University Press
Frequency
Attendance twice a week (4 hrs) during the second semester.
Exam mode
Oral exam and assessed assignment (as an alternative to a written test)
Lesson mode
Face to face lectures, with occasional seminars by external experts
  • Lesson code10620737
  • Academic year2025/2026
  • CourseStatistical Sciences
  • CurriculumBiostatistica
  • Year1st year
  • Semester2nd semester
  • SSDMED/01
  • CFU6