Single nucleotide polymorphisms and disease gene mapping.
Single nucleotide polymorphisms are the most important and basic form of variation in the genome, and they are responsible for genetic effects that produce susceptibility to most autoimmune diseases. The rapid development of databases containing very large numbers of single nucleotide polymorphisms, and the characterization of haplotypes and patterns of linkage disequilibrium throughout the genome, provide a unique opportunity to advance association strategies in common disease rapidly over the next few years. Only the careful use of these strategies and a clear understanding of their statistical limits will allow novel genetic determinants for many of the common autoimmune diseases to be determined.
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, UK. john.bell@ndm.ox.ac.uk
John I
JI
Bell
D001327:Autoimmune Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide