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.

Identification of Novel Genetic Susceptibility Loci In African-American Lupus Patients Using a Candidate Gene Association Study.

Sanchez1,  Elena, Comeau2,  Mary E., Freedman2,  Barry I., Kelly1,  Jennifer A., Kaufman3,  Kenneth, Langefeld2,  Carl D., Brown,  Elizabeth E.

Oklahoma Medical Research Foundation, Oklahoma City, OK
UCLA School of Medicine, Los Angeles, CA
Medical University of SC, Charleston, SC
Division of Rheumatologyand Immunology, Medical University of South Carolina, Charleston, SC
Oklahoma Medical Research Foundation and Oklahoma University Health Sciences Center, Oklahoma City, OK
King's College London, Guy's Hospital, London, United Kingdom
Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK
Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA
University of Chicago, Chicago, IL
University of Michigan, Ann Arbor, MI
Cincinnati Children's Hospital Medical Center and the US Department of Veterans Affairs Medical Center, Cincinnati, OH
Wake Forest University Health Sciences, Winston-Salem, NC
Oklahoma Medical Research Foundation, Center for Genomics and Oncological Research Pfizer-University of Granada-Junta de Andalucia, Oklahoma City, OK
Oklahoma Medical Research Foundation, Oklahoma CIty, OK


Candidate gene and genome-wide association studies have identified several disease susceptibility loci in lupus patients.These studies have been largely performed in European-derived and Asian lupus patients. In this study, we examine if some of these same susceptibility loci increase lupus risk in African-American individuals.


Single nucleotide polymorphisms tagging 15 independent lupus susceptibility loci were genotyped in a set of 1,724 lupus patients and 2,024 normal healthy controls of African-American descent. The loci examined included: PTPN22, FCGR2A, TNFSF4, STAT4, CTLA4, PDCD1, PXK, BANK1, MSH5(HLA region) CFB (HLA region), C8orf13-BLK region, MBL2, KIAA1542, ITGAM, and MECP2/IRAK1.


We provide the first evidence for genetic association between lupus and five lupus susceptibility loci in African-American lupus patients (C8orf13-BLK, BANK1,TNFSF4, KIAA1542 and CTLA4; P values= 8.0 × 10–6, 1.9 × 10–5, 5.7 × 10–5,0.00099, 0.0045, respectively). Further, we confirm the genetic association between lupus and five additional lupus susceptibility loci (ITGAM, MSH5, CFB, STAT4, and FCGR2A; P values= 7.5 × 10–11, 5.2 × 10–8, 8.7 × 10–7, 0.0058, and 0.0070, respectively), and provide evidence for a genome-wide significance for the association between ITGAM and MSH5 (HLA region) for the first time in African-American lupus patients.


These findings provide evidence for novel genetic susceptibility loci for lupus in African-Americans and demonstrate that the majority of lupus susceptibility loci examined confer lupus risk across multiple ethnicities.

To cite this abstract, please use the following information:
Sanchez, Elena, Comeau, Mary E., Freedman, Barry I., Kelly, Jennifer A., Kaufman, Kenneth, Langefeld, Carl D., et al; Identification of Novel Genetic Susceptibility Loci In African-American Lupus Patients Using a Candidate Gene Association Study. [abstract]. Arthritis Rheum 2011;63 Suppl 10 :2476

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