Current status of lupus genetics

Andrea L Sestak¹ , Swapan K Nath², Amr H Sawalha¹^,3^,4 and John B Harley¹^,3^,4

¹Oklahoma Medical Research Foundation, Arthritis and Immunology Research Program, 825 NE 13th St, Oklahoma City, Oklahoma, 73104 USA

²Oklahoma Medical Research Foundation, Genetic Epidemiology Unit, Arthritis and Immunology Research Program, 825 NE 13th St, Oklahoma City, Oklahoma, 73104 USA

³US Department of Veterans Affairs Medical Center, Department of Medicine, University of Oklahoma Health Sciences Center, 921 NE 13th St, Oklahoma City, Oklahoma, 73104 USA

⁴Department of Internal Medicine, University of Oklahoma Health Sciences Center, 1100 N Lindsay, Oklahoma City, Oklahoma, 73104 USA

author email corresponding author email

Arthritis Research & Therapy 2007, 9:210doi:10.1186/ar2176


Published:	14 May 2007

Abstract

Over the past 40 years more than 100 genetic risk factors have been defined in systemic lupus erythematosus through a combination of case studies, linkage analyses of multiplex families, and case-control analyses of single genes. Multiple investigators have examined patient cohorts gathered from around the world, and although we doubt that all of the reported associations will be replicated, we have probably already discovered many of the genes that are important in lupus pathogenesis, including those encoding human leukocyte antigen-DR, Fcγ receptor 3A, protein tyrosine phosphatase nonreceptor 22, cytotoxic T lymphocyte associated antigen 4, and mannose-binding lectin. In this review we will present what is known, what is disputed, and what remains to be discovered in the world of lupus genetics.