Brief Communication abstract
Nature Genetics 40, 152 - 154 (2008)
Published online: 20 January 2008 | doi:10.1038/ng.71
A nonsynonymous functional variant in integrin-
M (encoded by ITGAM) is associated with systemic lupus erythematosus
Swapan K Nath1,2, Shizhong Han1,2, Xana Kim-Howard1,2, Jennifer A Kelly2, Parvathi Viswanathan1,2, Gary S Gilkeson3, Wei Chen4, Cheng Zhu4,5, Rodger P McEver6, Robert P Kimberly7, Marta E Alarcón-Riquelme8, Timothy J Vyse9, Quan-Zhen Li10, Edward K Wakeland10, Joan T Merrill11, Judith A James2,12, Kenneth M Kaufman2,13, Joel M Guthridge2,14 & John B Harley2,12,13,14
We identified and replicated an association between ITGAM (CD11b) at 16p11.2 and risk of systemic lupus erythematosus (SLE) in 3,818 individuals of European descent. The strongest association was at a nonsynonymous SNP, rs1143679 (P = 1.7 
10-17, odds ratio = 1.78). We further replicated this association in two independent samples of individuals of African descent (P = 0.0002 and 0.003; overall meta-analysis P = 6.9 10-22). The genetic association between ITGAM and SLE implicates the 
M
2-integrin adhesion pathway in disease development.
- Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, Oklahoma 73104, USA.
- Arthritis & Immunology Program, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, Oklahoma 73104, USA.
- Department of Medicine, Division of Rheumatology, Medical University of South Carolina, 135 Rutledge Ave., Charleston, South Carolina 29403, USA.
- George W. Woodruff School of Mechanical Engineering, Georgia Institute of Technology, 801 Ferst Drive,. Atlanta, Georgia 30332, USA.
- Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology, 313 Ferst Drive, Suite 2127, Atlanta, Georgia 30332, USA.
- Cardiovascular Biology Program, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, Oklahoma 73104, USA.
- Department of Medicine, Division of Clinical Immunology and Rheumatology, The University of Alabama at Birmingham, 1900 University Blvd., Birmingham, Alabama 35294, USA.
- Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, P.O. Box 256, SE-751 05 Uppsala, Sweden.
- Rheumatology Section, Imperial College, Hammersmith Hospital, London W12 0NN, UK.
- Department of Immunology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, Texas 75235, USA.
- Department of Clinical Pharmacology, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, Oklahoma 73104, USA.
- Departments of Medicine and Pathology, University of Oklahoma Health Sciences Center, 1100 N. Lindsey, Oklahoma City, Oklahoma 73104, USA.
- US Department of Veterans Affairs Medical Center, 921 NE 13th St., Oklahoma City, Oklahoma 73104, USA.
- These authors contributed equally to this work.
Correspondence to: Swapan K Nath1,2 e-mail: Swapan-Nath@omrf.org
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