RT Journal Article
SR Electronic
T1 Analysis of CARD15 polymorphisms in Korean patients with ankylosing spondylitis reveals absence of common variants seen in western populations.
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 1959
OP 1961
VO 31
IS 10
A1 Tae-Hwan Kim
A1 Proton Rahman
A1 Jae-Bum Jun
A1 Hye-Soon Lee
A1 Yong-Wook Park
A1 Ho Joon Im
A1 Tara Snelgrove
A1 Lynette Peddle
A1 David Hallett
A1 Robert D Inman
YR 2004
UL http://www.jrheum.org/content/31/10/1959.abstract
AB 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.