Association of single nucleotide polymorphism in TGFBR2 gene with Kawasaki disease and coronary artery lesions.
- Author:
Cui-Ping SHI
1
;
Hong-Yan ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Coronary Artery Disease; genetics; Female; Genetic Predisposition to Disease; Genotype; Humans; Infant; Male; Mucocutaneous Lymph Node Syndrome; genetics; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Protein-Serine-Threonine Kinases; genetics; Receptors, Transforming Growth Factor beta; genetics; Signal Transduction; Transforming Growth Factor beta; physiology
- From: Chinese Journal of Contemporary Pediatrics 2013;15(9):767-770
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo examine the single nucleotide polymorphism (SNP) (rs1495592) in transforming growth factor-beta receptor 2 (TGFBR2) gene in children, and to investigate its association with Kawasaki disease (KD) and coronary artery lesions (CALs).
METHODSThirty-five KD patients, 14 of whom had CALs (CAL subgroup), were selected as the case group, and 25 healthy age-matched children were selected as the control group. The SNP (rs1495592) in TGFBR2 gene was studied by gene sequencing. The association of SNP (rs1495592) with KD and (CALs) was analyzed based on the sequencing results.
RESULTSThere were no significant differences in genotype frequency distribution (χ(2)=0.566, P=0.452) and allele frequency distribution (χ(2)=0.216, P=0.642) between the two groups. Genotypes in the CAL subgroup included CC (21.4%) and CT+TT (78.6%), while genotypes in the non-CAL subgroup included CC (61.9%) and CT+TT (38.1%). There was significant difference in genotype frequency distribution between the two groups (χ(2)=5.546, P=0.019), but without significant difference in allele frequency distribution (χ(2)=3.673, P=0.055).
CONCLUSIONSThe SNP (rs1495592) in TGFBR2 gene may not be associated with development of KD in children, but it is associated with CALs in children with KD.
