Modelos y métodos estadísticos para el análisis de datos cuantitativos en epidemiología genética

Duration

2009- 2011

Coordinator

Juan Ramón González Ruiz

Funded by

Ministerio de Educación y Ciencia

The study of the role of genes in diseases that are considered complex has received a lot of attention over the past few years. Recently the most frequently used genetic markers to determine their relationship with certain diseases have been what is known as Single Nucleotide Polymorphism (SNP). However, other variants known as Copy Number Variants (CNVs), for which certain associations with diseases such as AIDS or renal lesions have been described, are currently being studied.

The main difference between technologies designed for the analysis of SNPs and CNVs is that SNPs provide qualitative information (3 genotypes), while CNVs are measured qualitatively (continuous variable). The statistical methods used for the analysis of genetic epidemiology studies with SNPs are yet to be developed. For this reason, one of the aims of this project is to develop statistical methods to analyse studies with qualitative data in genetic epidemiology. The validation of these models will be achieved by means of simulation studies and the use of several studies with real data pertaining to diseases such as migraine, colorectal cancer, psychiatric disorders or chronic obstructive pulmonary disease, amongst others.

We are also going to create a library in R (http://www.r-project.org/), implementing all of these methods, as well as a Web application that enables researchers from other laboratories to perform their own analysis using the methodology that is going to be developed. We are expecting all of these methods and tools to be of great use to the scientific community in the study of CNVs in complex diseases, thereby aiding the study of genes that may have an impact on the diagnosis, prognosis or treatment of the most common diseases.