Year: 2010
Type: article
Study design: Observational Study
Abstract: 1 (pdf) Obesity increases the risk for several conditions, including type 2 diabetes mellitus, cardiovascular disease, hypertension, osteoarthirits and certain types of cancer.Twin-and family studies have shown that there is a major genetic component in the determination of body mass.In recent years several technological and scientific advance have been made in obesity research.For instance, novel replicated loci have been revealed by a number of genome wide association studies.This thesis aimed to investigate the association of genetic factors and obesity-related quantitative traits.The first study investigated the role of the lactase gene in anthropometric traits.We genetically defined lactose persistence by genotyping 31 720 individuals of European descent.We found that lactase persistence was significantly correlated with weight and body mass index but not with height.In the second study we performed the largest whole genome linkage scan for body mass index to date.The sample consisted of 4401 twin families and 10 535 individuals from six European countries.We found supporting evidence for two loci (3q29 and 7q36).We observed that the heritability estimate increased substantially when additional family members were removed from the analyses, which suggests reduced environmental variance in the twin sample.In the third study we assessed metabonomic, transcriptomic and genomic variation in a Finnish population cohort of 518 individuals.We formed gene expression networks to portray pathways and showed that a set of highly correlated genes of an inflammatory pathway associated with 80 serum metabolites (of 134 quantified measures).Strong association was found, for example, with several lipoprotein subclasses.We inferred causality by using genetic variation as anchors.The expression of the network genes was found to be dependent on the circulatory metabolite concentrations.
Author: Johannes Kettunen
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2137294071