Arthritis & Rheumatism, Volume 63,
November 2011 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Chicago, Illinois November 4-9, 2011.

Phenotypic Associations of Genetic Susceptibility Loci In Systemic Lupus Erythematosus.

Sanchez1,  Elena, Nadig1,  Ajay, Richardson2,  Bruce C., Freedman3,  Barry I., Kaufman4,  Kenneth, Niewold5,  Timothy B., Kamen6,  Diane L.

Oklahoma Medical Research Foundation, Oklahoma City, OK
Oklahoma Medical Research Foundation and Oklahoma University Health Sciences Center, Oklahoma City, OK
Rosario, Argentina
Instituto de Parasitologia y Biomedicina Lopez-Neyra (CSIC), Granada, Spain
Hanyang University Hospital for Rheumatic Diseases, Clinical Research Center for Rheumatoid Arthritis (CRCRA), Seoul, South Korea
Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK
King's College London, Guy's Hospital, London, United Kingdom
University of California San Francisco, San Francisco, CA
UCLA School of Medicine, Los Angeles, CA
Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA
Cincinnati Children's Hospital Medical Center and the US Department of Veterans Affairs Medical Center, Cincinnati, OH
University of Michigan, Ann Arbor, MI
Wake Forest University Health Sciences, Winston-Salem, NC
Oklahoma Medical Research Foundation, Oklahoma CIty, OK
University of Chicago, Chicago, IL
Medical University of SC, Charleston, SC
Division of Rheumatologyand Immunology, Medical University of South Carolina, Charleston, SC
University of Alabama at Birmingham, Birmingham, AL
Universidad del Rosario-Corporacion para Investigaciones Biologicas, Bogota, Colombia


Systemic lupus erythematosus is a clinically-heterogeneous autoimmune disease characterized by antinuclear antibody production. A number of genetic loci that increase lupus susceptibility have been established. Herein, we examine if these genetic loci also contribute to the clinical heterogeneity in lupus.


A total of 4,001 European-derived, 1,547 Hispanic, 1,590 African-American, and 1,191 Asian lupus patients were genotyped for tag SNPs within 16 confirmed lupus susceptibility loci. Ancestry informative markers were genotyped to calculate and adjust for admixture proportions in each population. The association between the risk allele in each locus was determined and compared in patients with and without the various clinical manifestations included in the ACR criteria.


Significant associations were found between clinical manifestations and the FCGR2A, ITGAM, STAT4, TNSF4, and IL21 genes. Renal disorder was significantly correlated with the lupus risk allele in ITGAM (P= 5.0 × 10-6, OR= 1.25 95%CI 1.12–1.35) and in TNFSF4 (P= 0.0013, OR= 1.14 95%CI 1.07–1.25). Other significant findings include the association between the risk alleles in FCGR2A and malar rash (P= 0.0031, OR= 1.11 95%CI 1.17–1.33), ITGAM and discoid rash (P= 0.0020, OR= 1.20 95%CI 1.06–1.33), STAT4 and the protection from oral ulcers (P= 0.0027, OR= 0.89 95%CI 0.83–0.96), and IL21 and hematologic disorder (P= 0.0027, OR= 1.13 95%CI 1.04–1.22). All these associations are significant with a false discovery rate of <0.05 and pass the significance threshold using Bonferroni correction for multiple testing.


We analyzed the association between genetic risk loci and clinical manifestations in lupus using a large multi-ethnic cohort of lupus patients. Our findings suggest that genetic profiling might be a useful tool to predict disease manifestations in lupus patients in the future.

To cite this abstract, please use the following information:
Sanchez, Elena, Nadig, Ajay, Richardson, Bruce C., Freedman, Barry I., Kaufman, Kenneth, Niewold, Timothy B., et al; Phenotypic Associations of Genetic Susceptibility Loci In Systemic Lupus Erythematosus. [abstract]. Arthritis Rheum 2011;63 Suppl 10 :632

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