interakcie gény, gén prostredie, epistáza, software MDR

pre záujemcov o genetiku a interakcie medzi génmi, génmi a faktormi prostredia odporúčam blog Jasona Moore-a z Vanderbildtovej Uni. Jason je spoluautorom jednej z metód na testovanie interakcií medzi génmi (epistázy) ako aj príslušného softwéru - multifactor dimensionality reduction, MDR.
epistasis blog

Moore JH. The ubiquitous nature of epistasis in determining susceptibility to common human diseases. Hum Hered. 2003;56(1-3):73-82. pubmed
There is increasing awareness that epistasis or gene-gene interaction plays a role in susceptibility to common human diseases. In this paper, we formulate a working hypothesis that epistasis is a ubiquitous component of the genetic architecture of common human diseases and that complex interactions are more important than the independent main effects of any one susceptibility gene. This working hypothesis is based on several bodies of evidence. First, the idea that epistasis is important is not new. In fact, the recognition that deviations from Mendelian ratios are due to interactions between genes has been around for nearly 100 years. Second, the ubiquity of biomolecular interactions in gene regulation and biochemical and metabolic systems suggest that relationship between DNA sequence variations and clinical endpoints is likely to involve gene-gene interactions. Third, positive results from studies of single polymorphisms typically do not replicate across independent samples. This is true for both linkage and association studies. Fourth, gene-gene interactions are commonly found when properly investigated. We review each of these points and then review an analytical strategy called multifactor dimensionality reduction for detecting epistasis. We end with ideas of how hypotheses about biological epistasis can be generated from statistical evidence using biochemical systems models. If this working hypothesis is true, it suggests that we need a research strategy for identifying common disease susceptibility genes that embraces, rather than ignores, the complexity of the genotype to phenotype relationship.

tu je odkaz na článok o metóde MDR
Hahn
Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions.Bioinformatics. 2003 Feb 12;19(3):376-82.

v tomto článku nájdete prehľad používaných metód na štúdium interakcií predovšetkým medzi génmi.

Heidema
The challenge for genetic epidemiologists: how to analyze large numbers of SNPs in relation to complex diseases.BMC Genet. 2006 Apr 21;7:23.