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Journal of Biomedicine and Biotechnology
Volume 2010, Article ID 706825, 11 pages
Research Article

The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus

1Division of Molecular Immunology and Graduate Program in Immunobiology, Cincinnati Children’s Hospital Research Foundation, OH 45267, USA
2Arthritis and Immunology Program, Oklahoma Medical Research Foundation, OK 73104, USA
3University of Cincinnati Physician Scientist Training Program, OH 45267-0548, USA
4Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, IL 60637, USA
5Clinical Immunology Program, Oklahoma Medical Research Foundation, OK 73104, USA
6Department of Medicine, US Department of Veterans Affairs Medical Center Oklahoma City, Ok 73104, USA
7Department of Biostatistical Sciences, Wake Forest University Health Sciences, NC 27106, USA
8Departments of Medicine, Epidemiology, and Surgery, University of Alabama at Birmingham, AL 35294-1150, USA
9School of Medicine, Johns Hopkins University, MD 21205, USA
10Division of Rheumatology, Department of Medicine, Feinberg School of Medicine, Northwestern University, IL 60611, USA
11Department of Rheumatology and Clinical Immunogenetics, The University of Texas Health Science Center at Houston, TX 77030, USA
12Section of Rheumatology, University of Puerto Rico, PR 00921, USA
13Clinical Pharmacology Program, Oklahoma Medical Research Foundation, USA
14Division of Rheumatology, Department of Medicine, Medical University of South Carolina, SC 29425, USA
15Rheumatology Section, Imperial College, Hammersmith Hospital, London W12 0HS, UK
16Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 75105 Uppsala, Sweden
17Andalucian Center for Genomics and Oncological Research Pfizer, University of Granada, Junta de Andalucia, Granada, 1807, Spain
18Department of Rheumatology, Hospital for Rheumatic Diseases, Hanyang University, Seoul, Republic of Korea
19Division of Gastrointestinal and Liver Disease, University of Southern California, CA 90089, USA
20Departments of Medicine and Pathology, University of Oklahoma Health Sciences Center, OK 73104, USA

Received 15 January 2010; Revised 21 April 2010; Accepted 13 May 2010

Academic Editor: Charles Via

Copyright © 2010 Isaac T. W. Harley et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males ( , ), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.