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The genetics of type 2 diabetes

Reiling, H.W.

Citation

Reiling, H. W. (2010, March 10). The genetics of type 2 diabetes. Retrieved from https://hdl.handle.net/1887/15057

Version: Corrected Publisher’s Version

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

Downloaded from: https://hdl.handle.net/1887/15057

Note: To cite this publication please use the final published version (if

applicable).

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About the cover:

A good cover is the ‘eye-catcher’ of the thesis.

Designed by J.D. Buiter.

Eyes belong to Marlies Geertsema.

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Proefschrift

ter verkrijging van

de graad van Doctor aan de Universiteit Leiden,

op gezag van Rector Magnificus prof. mr. P.F. van der Heijden, volgens besluit van het College voor Promoties

te verdedigen op woensdag 10 maart 2010 klokke 13:45 uur

door

Hendrik Willem Reiling geboren te Dedemsvaart

in 1983

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Promotie commissie

Promotores: Prof. dr. J.A. Maassen (VUMC Amsterdam / LUMC Leiden)

Prof. dr. P. ten Dijke

Co-promotor: Dr. ing. L.M. ’t Hart

Overige Leden: Prof. dr. A.K. Raap

Prof. dr. J.A. Romijn

Prof. dr. J.M. Dekker (VUMC Amsterdam) Prof. dr. C.M. van Duijn (ErasmusMC Rotterdam)

ISBN: 9789461080042

This research was supported by a grant from The Netherlands organisation for health research and development - Research Institute for Diseases in the Elderly program (ZonMW - RIDE program).

Production of this thesis was funded by the Dutch Diabetes Research Foundation and the ZonMW - RIDE program.

Printing of this thesis was performed by Gildeprint drukkerijen, Enschede.

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Table of contents

List of abbreviations

Chapter 1 Introduction

Chapter 2 Genetic association analysis of LARS2 with type 2 diabetes Diabetologia 2010 Jan 53 (1): 103-111

Chapter 3 Genetic association analysis of 13 nuclear encoded mitochondrial candidate genes with type 2 diabetes:

the DAMAGE study

Eur J Hum Genet 2009 Aug 17(8):1056-62

Chapter4 The association of mitochondrial content with prevalent and incident type 2 diabetes

Revised manuscript submitted for publication

Chapter 5 Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk

Diabetologia 2009 Sep 52(9): 1866-70

Chapter 6 Summary and discussion

Nederlandse samenvatting (Summary in Dutch)

List of Publications

Curriculum vitae

9

35

55

73

93

107

127

133

135

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List of abbreviations 2hrG 2 Hour Glucose A Additive effects

ADP Adenosine diphosphate ATP Adenosine triphosphate

C Shared environmental influences DCS Diabetes Care System West-Friesland df Degrees of Freedom

DZF dizygotic female DZM dizygotic male

E Unique environmental influences FADH2 Flavin Adenine dinucleotide reduced FPG Fasting Plasma Glucose

GDM Gestational Diabetes Mellitus GWAS Genome Wide Association Study HAART Highly Active Anti Retroviral Therapy HWE Hardy Weinberg Equilibrium

IFG Impaired Fasting Glucose IGT Impaired Glucose Tolerant LD Linkage Disequilibrium MAF Minor Allele Frequency

MIDD Maternally Inherited Diabetes and Deafness MODY Maturity Onset Diabetes of the Young mtDNA mitochondrial DNA

mtSSB Mitochondrial Single-Stranded DNA-Binding protein MZF monozygotic female

MZM monozygotic male

NADH Nicotinamide Adenine Dinucleotide (oxidized form) NGT Normal Glucose Tolerance

NHS New Hoorn Study

OGTT Oral Glucose Tolerance Test OR Odds Ratio

QC Quality Control

SNP Single Nucleotide Polymorphism TCA Tricaboxylic acid

TWINKLE Replicative mitochondrial Helicase VDCC Voltage Dependent Calcium Channel WHO World Health Organization

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