Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

  • Choi, Yu-Mi (Department of Pediatrics, Kyung Hee University Hospital at Gangdong) ;
  • Shim, Kye-Sik (Department of Pediatrics, Kyung Hee University Hospital at Gangdong) ;
  • Yoon, Kyung-Lim (Department of Pediatrics, Kyung Hee University Hospital at Gangdong) ;
  • Han, Mi-Young (Department of Pediatrics, Kyung Hee University Medical Center) ;
  • Cha, Sung-Ho (Department of Pediatrics, Kyung Hee University Medical Center) ;
  • Kim, Su-Kang (Department of Clinical Pharmacology, Kyung Hee University School of Medicine) ;
  • Jung, Joo-Ho (Department of Clinical Pharmacology, Kyung Hee University School of Medicine)
  • Received : 2011.08.01
  • Accepted : 2011.11.12
  • Published : 2012.01.15
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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.

Keywords

References

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