HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms.
OBJECTIVE
Kawasaki disease (KD) is a pediatric systemic vasculitis of unknown cause for which a genetic influence is supposed. The purpose of this study was to identify possible genetic variants in the major histocompatibility complex (MHC) region that are associated with KD and the development of coronary artery aneurysms (CAAs) in a Taiwanese population.


METHODS
The 168 genetic variants covering the MHC locus were analyzed in an association study of a Taiwanese cohort of 93 KD patients and 680 unrelated healthy children matched for sex and age with the study patients.


RESULTS
Eleven single-nucleotide polymorphisms (SNPs) were associated with the occurrence of KD. The SNP located at the 3'-untranslated region of HLA-E (rs2844724) was highly associated (P < 1 x 10(-7)). In addition, the frequency of the C allele was higher in KD patients without CAAs than in controls (P < 0.001) due to a significantly increased frequency of the CC and CT genotypes. Plasma levels of soluble HLA-E were significantly higher in KD patients than in controls regardless of the presence of CAAs. Furthermore, there was a trend toward higher plasma levels of soluble HLA-E in KD patients with the CT and TT genotypes of the HLA-E gene polymorphism.


CONCLUSIONS
Our results suggest that the HLA-E gene polymorphism may play a role in the pathogenesis of KD.
Lin
Y-J
YJ
China Medical University Hospital, China Medical University, and Asia University, Taichung, Taiwan.
Wan
L
L
Wu
J-Y
JY
Sheu
J J-C
JJ
Lin
C-W
CW
Lan
Y-C
YC
Lai
C-H
CH
Hung
C-H
CH
Tsai
Y
Y
Tsai
C-H
CH
Lin
T-H
TH
Lin
J-G
JG
Hsueh
K-C
KC
Huang
Y-M
YM
Chang
J-S
JS
Tsai
F-J
FJ
D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6; D015331:Cohort Studies; D015897:Comorbidity; D003323:Coronary Aneurysm / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D003331:Coronary Vessels; D005260:Female; D020022:Genetic Predisposition to Disease; D006680:HLA Antigens / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan / Q000453:epidemiology; D000097625:HLA-E Antigens
D006680:HLA Antigens; D015395:Histocompatibility Antigens Class I; D000097625:HLA-E Antigens