Analysis of CARD15 polymorphisms in Korean patients with ankylosing spondylitis reveals absence of common variants seen in western populations.
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.


CONCLUSIONS
Our findings indicate that the CARD15 gene is not a major contributor to AS susceptibility in the Korean population.
Hospital for Rheumatic Diseases, Hanyang University, Seoul, Korea.
Tae-Hwan
TH
Kim
Proton
P
Rahman
Jae-Bum
JB
Jun
Hye-Soon
HS
Lee
Yong-Wook
YW
Park
Ho Joon
HJ
Im
Tara
T
Snelgrove
Lynette
L
Peddle
David
D
Hallett
Robert D
RD
Inman
D000328:Adult; D003424:Crohn Disease / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007723:Korea; D008297:Male; D008969:Molecular Sequence Data; D053473:Nod2 Signaling Adaptor Protein; D011110:Polymorphism, Genetic; D013167:Spondylitis, Ankylosing / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein