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| Item Type: | Article |
|---|---|
| Title: | Prioritization of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes |
| Creators Name: | Tiffin, N., Okpechi, I., Perez-Iratxeta, C., Andrade-Navarro, M.A. and Ramesar, R. |
| Abstract: | There is a rapid increase in world-wide burden of disease attributed to metabolic syndrome, as defined by co-occurrence of an array of phenotypes including abdominal obesity, dysglycemia, hypertrigylceridemia, low levels of high density lipoprotein (HDL) cholesterol and hypertension. Familial studies clearly indicate a genetic component to the disease and many linkage studies have identified a large number of linked loci. No disease-causing genes, however, have been conclusively identified, most likely because this is a multigenic disease for which effects of many causative genes may be small and combined with environmental effects. To assist empirical identification of metabolic syndrome associated genes, we present here a novel computational approach to prioritise candidate genes. We have used linkage studies and the clinical and population-specific presentation of the disease to select a final candidate gene list of nineteen most likely disease-causing genes. These are predominantly involved in chylomicron processing, transmembrane receptor activity and signal transduction pathways. We propose here that information about the clinical presentation of a complex trait can be used to effectively inform computational prioritisation of disease-causing genes for that trait. |
| Keywords: | Metabolic Syndrome, Candidate Genes, Computational Analysis, Disease Genes, Complex Disease, Computational Biology, Genetic Predisposition to Disease, Linkage, Metabolic Syndrome X, Phenotype, Software |
| Source: | Physiological Genomics |
| ISSN: | 1094-8341 |
| Publisher: | American Physiological Society |
| Volume: | 35 |
| Number: | 1 |
| Page Range: | 55-64 |
| Date: | 17 September 2008 |
| Official Publication: | https://doi.org/10.1152/physiolgenomics.90247.2008 |
| PubMed: | View item in PubMed |
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