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Korean J Pediatr 2012 January;55(1) :18-23.
Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease
Yu Mi Choi (Choi YM)1, Kye Sik Shim (Shim KS)1, Kyung Lim Yoon (Yoon KL)1, Mi Young Han (Han MY)2, Sung Ho Cha (Cha SH)2, Su Kang Kim (Kim SK)3, Joo Ho Jung (Jung JH)3
1Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea
2Department of Pediatrics, Kyung Hee University Medical Center, Seoul, Korea
3Department of Clinical Pharmacology, Kyung Hee University School of Medicine, Seoul, Korea
Corresponding Author: Kyung Lim Yoon ,Tel: +82-2-440-6132, Fax: +82-2-440-7175, Email:
Copyright © 2012 by The Korean Pediatric Society
Purpose : Transforming growth factor beta receptor 2 (TGFBR2) is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the TGFBR2 gene SNPs are related to the pathogenesis of Kawasaki disease (KD) and coronary artery lesion (CAL). Methods : The subjects were 105 patients with KD and 500 healthy adults as controls. Mean age of KD group was 32 months age and 26.6% of those had CAL. We selected TGFBR2 gene SNPs from serum and performed direct sequencing. Results : The sequences of the eleven SNPs in the TGFBR2 gene were compared between the KD group and controls. Three SNPs (rs1495592, rs6550004, rs795430) were associated with development of KD (P=0.019, P=0.026, P=0.016, respectively). One SNP (rs1495592) was associated with CAL in KD group (P=0.022). Conclusion : Eleven SNPs in TGFBR2 gene were identified at that time the genome wide association. But, with the change of the data base, only six SNPs remained associated with the TGFBR2 gene. One of the six SNPs (rs6550004) was associated with development of KD. One SNP associated with CAL (rs1495592) was disassociated from the TGFBR2 gene. The other five SNPs were not functionally identified, but these SNPs are notable because the data base is changing. Further studies involving larger group of patients with KD are needed.
Keywords: Transforming growth factor-beta type II receptor | Kawasaki disease | Coronary artery lesion | Genetic polymorphism
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Transforming growth factor- gene promoter polymorphism : its association with renal involvement in Henoch-Sch lein Purpura in childhood  2008 May;51(5)
A Case of Septic Arthritis due to Haemophilus influenzae associated with Atypical Kawasaki Disease  1999 October;42(10)
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