Statistical methods for analysing complex genetic traits

El Galta, Rachid (2006)

Doctoral Thesis

Complex traits are caused by multiple genetic and environmental factors, and are therefore difficult to study compared with simple Mendelian diseases. The modes of inheritance of Mendelian diseases are often known. Methods to dissect such diseases are well described in literature. For complex genetic traits, the inheritance pattern is not clear and difficult to understand, and genetic variants contributing to such traits probably have small effect sizes. Hence, searching for genes responsible for complex traits requires different strategies searching for genes responsible for complex traits requires different strategies as well as new methods. A common strategy for mapping complex traits is as follows: (1) perform a genome-wide linkage analysis using dense genetic markers, and identify regions showing evidence of linkage, then (2) perform association analysis to refine these regions. Along these lines we propose several methods for detecting disease genes.

• Familial aggregation
• Ascertainment issue
• Linkage analysis
• Genetic association studies
• Multiple testing problem
• Score statistic

• All authors: El Galta, Rachid
• Supervisor: Houwelingen, J.C. van; Stijnen, T.
• Co-supervisor: Houwing-Duistermaat, J.J.
• Qualification: Doctor (dr.)
• Awarding Institution: Medical Statitics Department, Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2006-09-27
• Sponsorship: The Netherlands Organization for Scientific Research