Arthritis Research & Therapy

official impact factor 4.36

This article is part of the supplement: The Scientific Basis of Rheumatology

Review

Single nucleotide polymorphisms and disease gene mapping

John I Bell

Author Affiliations

Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, UK

Arthritis Res 2002, 4(Suppl 3):S273-S278 doi:10.1186/ar555


London, UK. 24-26 June 2002

Published: 9 May 2002

Abstract

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.

Keywords:
disease association; genetics; HLA; linkage disequilibrium; SNP