Arthritis & Rheumatism, Volume 62,
November 2010 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Atlanta, Georgia November 6-11, 2010.

Fine Mapping and Trans-Ethnicity Genotyping in IL2/IL21 Establish the Genetic Association between IL21 and Systemic Lupus Erythematosus.

Hughes7,  Travis, Kim7,  Xana, Kelley7,  Jennifer A., Kaufman9,  Kenneth M., Langefeld17,  Carl D., Ziegler17,  Julie, Kimberly10,  Robert P.

Timonium, MD
Univ Alabama at Birmingham, Birmingham, AL
Univ Alabama at Birmingham
Univ of OK Hlth Sci Ctr, Oklahoma City, OK
Univ of PuertoRico Schl of Med, San Juan, PR
Univ Texas Health Sci Ctr, Houston, TX
University of Alabama at Birmingham, Birmingham, AL
University of Oklahoma Health Sciences Center, OMRF, VAMC, Oklahoma City, OK
Wake Forest University Health Sciences
Imperial College, Rheumatology Section, Hammersmith Hospital
Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas
Med Univ of South Carolina, Charleston, SC
Northwestern University, Chicago, IL
Oklahoma Med Research Foundation, Oklahoma City, OK
OMRF, Center for Genomics and Oncological Research Pfizer, University of Granada, Junta de Andalucia, Uppsala, Sweden


Genetic association of the IL2/IL21 region at 4q27 has been previously reported in lupus and a number of autoimmune and inflammatory diseases. Herein, using a very large cohort of lupus patients and controls, we localize this genetic effect to the IL21 gene.


We genotyped 45 tag SNPs across the IL2/IL21 locus in two independent lupus cohorts. We studied a European-derived cohort consisting of 4,248 lupus patients and 3,818 healthy controls, and an African-American cohort of 1,569 patients and 1,893 healthy controls. Genetic association between the genotyped markers was determined, and pair-wise conditional analysis was performed to localize the genetic effect in the IL2/IL21 locus in lupus.


We establish and confirm the genetic association between IL2/IL21 and lupus in two independent lupus cohorts. Using conditional analysis and utilizing trans-ethnicity genotyping, we localize the genetic effect for the first time in this locus to two SNPs; rs6835457 located in the 3'UTR flanking region of IL21 (Pmeta=2.51E-06), and rs907715 located within IL21 (Pmeta=1.74E-06).


Our data identify IL21 as a lupus susceptibility gene within the IL2/IL21 linkage disequilibrium block. This localization might be relevant to other autoimmune and inflammatory disease with a reported association in the IL2/IL21 genetic locus.

To cite this abstract, please use the following information:
Hughes, Travis, Kim, Xana, Kelley, Jennifer A., Kaufman, Kenneth M., Langefeld, Carl D., Ziegler, Julie, et al; Fine Mapping and Trans-Ethnicity Genotyping in IL2/IL21 Establish the Genetic Association between IL21 and Systemic Lupus Erythematosus. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :1594
DOI: 10.1002/art.29360

Abstract Supplement

Meeting Menu