Affiliations: University of Rostock, Institute of Immunology,
Schillingallee 70, 18055 Rostock, Germany. E-mail:
moeller@pzr.uni-rostock.de | University of Rostock, Department of Neurology,
Gehlsheimer Str. 20, 18147 Rostock, Germany
Note: [] Corresponding author
Abstract: Common complex polygenic diseases as autoimmune diseases have not
been completely understood on a molecular level. While many genes are known to
be involved in the pathways responsible for the phenotype, explicit causes for
the susceptibility of the disease remain to be elucidated. The susceptibility
to disease is thought to be the result of genetic epistatic interactions
between common polymorphic genes. This polymorphism is mostly caused by single
nucleotide polymorphisms (SNPs). Human subpopulations are known to differ in
the susceptibility to the diseases and generally in the distribution of single
nucleotide polymorphisms. The here presented approach retrieves SNPs with the most divergent
frequencies for selected human subpopulations to help defining properties for
the experimental verification of SNPs within defined regions. A web-accessible
program implementing this approach was evaluated for multiple sclerosis (MS), a
common human polygenic disease. A link to a summary of data from "The SNP
Consortium" (TSC) with sex-dependencies of SNPs is available. Associations of
SNPs to genes, genetic markers and chromosomal loci are retrieved from the
Ensembl project. This tool is recommended to be used in conjunction with
microarray analyses or marker association studies that link genes or
chromosomal loci to particular diseases.
Keywords: SNP selection by population frequencies, association studies, multiple sclerosis, ensembl
