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

Korean journal of pediatrics
Yu Mi ChoiJoo Ho Jung

Abstract

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). 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. 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). 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 w...Continue Reading

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Citations

Mar 28, 2013·Computational and Mathematical Methods in Medicine·Yu-wen LvHai-tao Lv
Oct 29, 2013·Pediatric Cardiology·Ja Hyang ChoKyung Lim Yoon
Apr 19, 2015·Journal of Medical Case Reports·Theano KontopoulouGeorge P Mousoulis
Jul 28, 2016·International Journal of Rheumatic Diseases·Raheleh AssariNima Rezaei
Apr 11, 2015·Korean journal of pediatrics·Kyung Lim Yoon
Jun 29, 2017·European Journal of Pediatrics·S M DietzT W Kuijpers
Sep 29, 2020·Frontiers in Pediatrics·Danfeng ZhangJie Tian
Mar 23, 2020·Clinical Reviews in Allergy & Immunology·Rajni KumrahSurjit Singh
Jul 6, 2019·Frontiers in Pediatrics·Himanshi ChaudharySurjit Singh

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Methods Mentioned

BETA
chip
PCR
dissections
coronary artery bypass
SMA

Software Mentioned

Haploview
Helix

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