Complex Trait Genetics

Dit vak wordt in het Engels aangeboden. Omschrijvingen kunnen daardoor mogelijk alleen in het Engels worden weergegeven.

Doel vak

Provide the theoretical background into human population and biometrical
genetics, as they are applicable to the genetic analysis of human
complex traits.

Inhoud vak

Quantitative genetics is concerned with the inheritance of those
differences between individuals that are of degree rather than of kind
(quantitative rather than qualitative). Such differences are seen for
most human complex traits (e.g. depression, cognitive abilities or
attention problems). When traits are classified into dichotomies (e.g.
the population is characterized by affected and unaffected individuals),
a quantitative distribution of liability may be assumed to model their
inheritance. This course aims to provide the theoretical understanding
of the inheritance of quantitative differences in behaviour, behavioural
disorders, endophenotypes (e.g. blood pressure or brain volumes)
underlying disease traits (e.g. hypertension or schizophrenia).
Quantitative differences, as far as they are inherited, depend on genes
with on average small effects and are usually influenced by gene
differences at many loci. Consequently these genes cannot be identified
by Mendelian segregation ratios (though they are subject to the laws of
Mendelian transmission).
The methods of quantitative genetics are characterized by studies of
large populations and families / twins and by the fact that the nature
of quantitative differences requires the measurement (and not just the
classification) of individuals. The extension of Mendelian genetics into
quantitative genetics will be made in two stages: the genetic properties
of populations (population genetics) and the inheritance of measurements
(biometrical genetics).
Quantitative genetics is now merging with molecular genetics and the
last part of this course will be devoted to methods for the localization
and characterization of genes causing quantitative variation and an
introduction of epigenetics.


Tuition consists of lectures, homework assignments, and active
participation in class.
Homework is evaluated in class each week.


• A final grade based on the average grade of 3 separate assessments:
homework assignments (20%), essays (50%), and oral presentation (30%).
• Homework assignments
• The homework assignments are questions that are included at the end
of each chapter of the book "Introduction to Quantitative Genetics’ by
Falconer & Mackay(1996), where students are required to apply the theory
from that chapter to exemplary data (generally based on data from
empirical studies). Students are asked to present their solution to
fellow students in class.
• Essays
• Students are asked to write two essays in English: one at the
beginning of the course and one at the end of the course. The first
essay has 2 main components: firstly, students are asked to describe
their background, indicate why they chose the course and what they aim
to learn. Secondly, they are asked to reflect on papers from the
literature list (recent state-of-the-art empirical papers from the field
of complex trait genetics and review papers that outline the current
state of the field) and indicate anything they did not understand about
these papers. After receiving individual feedback to the first essay and
after completion of the course, the students are asked to write a second
essay in which they are asked to reflect on their first essay and
indicate what they have learned. Essays are judged based on content,
understanding, and quality of writing.
• Oral presentations
• Students are asked to give an oral presentation of 15 minutes about
one topic from the literature list (2-3 scientific papers) or about a
chapter from Falconer & Mackay that has not been discussed in lectures.
The presentation should take the form of a didactic lecture in which the
student should teach fellow students the basic concept of the topic.
Presentations are judged based on content, understanding and didactic
presentation to other students.

Vereiste voorkennis

General knowledge of human and quantitative genetics. When in doubt, ask
the course coordinator.


Book ‘Introduction to Quantitative Genetics’ by Falconer & Mackay(1996):
Pearson; 4 edition
ISBN-10: 0582243025
• Boomsma DI. Twin, association and current "omics" studies. J
Matern Fetal Neonatal Med. 2013, 26 2:9-12
• Flint J, GWAS. Curr Biol. 2013;23(7):R265-6.
• Manolio TA. Bringing genome-wide association findings into
clinical use. Nat Rev Genet. 2013, 14(8),
• Geschwind DH, Flint J. Genetics and genomics of psychiatric
disease. Science, 2015:1489-1494
• O'Donovan, MC. What have we learned from the Psychiatric
Genomics Consortium. Psychiatry 2015, 14.3: 291-293.


MA Students, PhD-students, postdocs who are interested in the
theoratical basis of research on the genetic origin of complex features
of man.

Overige informatie

There will be guest lectures on topics that have emerged after the
last edition of the book was published; on fields like epegenetics.
Furthermore, it is expected from students that they will join a couple
of high-level meetings in the Netherlands, such as from BBRMI-NL.

Aanbevolen voorkennis

General knowledge of human and quantitative genetics. When in doubt,
contact the course coordinator (Dorret Boomsma:

Algemene informatie

Vakcode AM_470733
Studiepunten 6 EC
Periode P1
Vakniveau 500
Onderwijstaal Engels
Faculteit Faculteit der Bètawetenschappen
Vakcoördinator prof. dr. D.I. Boomsma
Examinator prof. dr. D.I. Boomsma
Docenten prof. dr. D.I. Boomsma

Praktische informatie

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