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.
Subject(s)
Adult , Humans , Coronary Artery Disease , Coronary Vessels , Death, Sudden , Genes, Tumor Suppressor , Genome , 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 FactorsABSTRACT
The antinuclear antbody (ANA) test have been used to screen the patients with systemic lupus erythematosus (SLE) and other autoimmune diseases. We had retrospectively reviewed the 263 records of pediatric patients with doing ANA tests who admitted at Department of Pediatrics, Kyung Hee University Hospital, from January 1988 to May 1993. The following results were obtained. 1) The positive rate of ANA test in patients with connective tissue diseases is 16 out of 40(40%).In patients with SLE, the positive rate of ANA test is 9 out of 11 (82%). 2) The positive predictivity for SLE is 9 out 36 (25%). 3) The positive predictivity for connective tissue disease and possible immune disease is 28 out of 36 (78%). 4) The false positive rate is 8 0ut of 36 (22%), Thus, the pediatric patients with positive ANA test should be applicable for diagnosis with prudence. 5) The positive anti-dsDNA in patients with the positive ANA is shown in 4 cases and these patients are all SLE. In conclusion, the patients who had repeated positive ANA should be tested Anti-dsDNA antibody, and further clinical and diagnostic evaluation of other ANA associated diseases.