Analysis of CARD15 Polymorphisms in Korean Patients with Ankylosing Spondylitis Reveals Absence of Common Variants Seen in Western Populations

TAE-HWAN KIM, PROTON RAHMAN, JAE-BUM JUN, HYE-SOON LEE, YONG-WOOK PARK, HO JOON IM, TARA SNELGROVE, LYNETTE PEDDLE, DAVID HALLETT, and ROBERT D. INMAN

ABSTRACT.

Objective. Substantial epidemiological and genetic evidence suggests that ankylosing spondylitis (AS) is likely due to an interplay of genetic and environmental factors. Recently, CARD15, located in chromosome 16q12, has been established as a disease susceptibility gene for Crohn's disease, Blau syndrome, and possibly psoriatic arthritis. Association studies in admixed populations from Northern European ancestry noted no such association between CARD15 mutations and AS. However, a homogenous population has yet to be studied. We investigated the prevalence of the 3 common CARD15 variants in a homogenous Korean population with AS.

Methods. All subjects were native Koreans with AS satisfying the modified New York criteria. Korean controls were examined and confirmed to be unaffected by AS. Subjects with AS were genotyped for the R702W, G908R, and Leu1007fsinsC variants of CARD15 using mass array MALDI-TOF mass spectrometry.

Results. A total of 205 AS subjects and 200 controls were genotyped. No subject with AS had any variants at the 702 and 1007 sites of CARD15. Only one subject was heterozygous for the 908 variant. The overall genotype frequency in AS for any CARD15 variant was 0.5%. No control had any of the 3 CARD15 variants.

Conclusion. Our findings indicate that the CARD15 gene is not a major contributor to AS susceptibility in the Korean population. (J Rheumatol 2004;31:1959-61)

Key Indexing Terms:

CARD15
ANKYLOSING SPONDYLITIS

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From the Hospital for Rheumatic Diseases, Hanyang University, Seoul, Korea; Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada; Memorial University of Newfoundland, St. John's, Newfoundland, Canada; Gachon Medical School, Gil Medical Center, Inchon, Korea; and Mount Sinai Hospital, Toronto Canada.

T-H. Kim, MD, PhD, Assistant Professor, Hanyang University; P. Rahman, MD, Professor, Memorial University; J-B. Jun, MD, PhD, Associate Professor; H-S. Lee, MD, PhD, Assistant Professor; Y-W. Park, MD, PhD, Clinical Fellow, Hanyang University; H.J. Im, MD, PhD, Assistant Professor, Gachon University; T. Snelgrove, BSc, Research Associate; L. Peddle, MSc, Research Associate, Memorial University; D. Hallett, MSc, Biostatistician, Critical Care Unit, Mount Sinai Hospital; R.D. Inman MD, Professor, University of Toronto.

Address reprint requests to Dr. R.D. Inman, The Arthritis Center of Excellence, Toronto Western Hospital, ECW 8-005, 399 Bathurst Street, Toronto, Ontario M5T 2S8, Canada. E-mail: Robert.Inman@uhn.on.ca

Submitted January 15, 2004; revision accepted May 17, 2004.

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