Polymorphisms of transforming growth factor-Β signaling pathway and Kawasaki disease in the Taiwanese population

Ho Chang Kuo, Yoshihiro Onouchi, Yu Wen Hsu, Wei Chiao Chen, Jin Ding Huang, Ying Hsien Huang, Ya Ling Yang, Mei Chyn Chao, Hong Ren Yu, Yung Shun Juan, Chiu Ming Kuo, Kuender D. Yang, Jung San Huang, Wei Chiao Chang

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)

Abstract

Kawasaki disease (KD) is a systemic vasculitis associated with cardiovascular symptom. A previous study in the European descent has indicated that genetic variants of the transforming growth factor-Β (TGF-Β) pathway are involved in the KD susceptibility and clinical status. This study was conducted to investigate if polymorphisms in TGF-Β signaling pathway are associated with KD susceptibility, and the coronary artery lesion formation. A total of 950 subjects (381 KD patients and 569 controls) were investigated to identify 12 single-nucleotide polymorphisms in the TGF-Β signaling pathway (rs2796817, rs10482751, rs2027567, rs12029576, rs11466480, rs4776338, rs12901071, rs7162912, rs1438386, rs6494633, rs12910698 and rs4776339) by using TaqMan Allelic Discrimination assay. Our results indicated that rs1438386 in the SMAD3 is significantly associated with the susceptibility of KD. Additionally, both haplotypes of TGFΒ2 and SMAD3 were also associated with the risk of KD. This study showed that genetic polymorphisms in TGF-Β signaling pathway are associated with KD susceptibility, but not coronary artery lesions formation, or intravenous immunoglobulin treatment response in the Taiwanese population.

Original languageEnglish
Pages (from-to)840-845
Number of pages6
JournalJournal of Human Genetics
Volume56
Issue number12
DOIs
Publication statusPublished - Dec 21 2011
Externally publishedYes

Keywords

  • coronary artery lesions
  • Kawasaki disease
  • single-nucleotide polymorphism
  • TGF-β

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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