Korean J Pediatr.  2012 Jan;55(1):18-23. 10.3345/kjp.2012.55.1.18.

Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

• Choi YM
• Shim KS
• Yoon KL
• Han MY
• Cha SH
• Kim SK
• Jung JH

• KMID: 1433775
• DOI: http://doi.org/10.3345/kjp.2012.55.1.18

Abstract

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.

Keyword

Transforming growth factor-beta type II receptor; Kawasaki disease; Coronary artery lesion; Genetic polymorphism

MeSH Terms

Adult
Coronary Artery Disease
Coronary Vessels
Death, Sudden
Genes, Tumor Suppressor
Genome
Humans
Marfan Syndrome
Mucocutaneous Lymph Node Syndrome
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta
Transforming Growth Factor beta
Transforming Growth Factors
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta
Transforming Growth Factor beta
Transforming Growth Factors