Choi Yu Mi, Shim Kye Sik, Yoon Kyung Lim, Han Mi Young, Cha Sung Ho, Kim Su Kang, Jung Joo Ho
Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
Korean J Pediatr. 2012 Jan;55(1):18-23. doi: 10.3345/kjp.2012.55.1.18. Epub 2012 Jan 31.
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 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.
转化生长因子β受体2（TGFBR2）是一种肿瘤抑制基因，在横纹肌细胞分化和冠状动脉重塑中发挥作用。该基因的单核苷酸多态性（SNP）与马方综合征及冠心病患者的猝死相关。TGFBR2基因的心血管重塑和T细胞活化提示其SNP与川崎病（KD）及冠状动脉病变（CAL）的发病机制有关。
研究对象为105例KD患者及500名健康成年人作为对照。KD组平均年龄32个月，其中26.6%患有CAL。我们从血清中选取TGFBR2基因SNP并进行直接测序。
比较了KD组与对照组之间TGFBR2基因中11个SNP的序列。三个SNP（rs1495592、rs6550004、rs795430）与KD的发生相关（分别为P = 0.019、P = 0.026、P = 0.016）。一个SNP（rs1495592）与KD组的CAL相关（P = 0.022）。
当时全基因组关联研究鉴定出TGFBR2基因中的11个SNP。但随着数据库的变化，仅6个SNP仍与TGFBR2基因相关。6个SNP中的一个（rs6550004）与KD的发生相关。一个与CAL相关的SNP（rs1495592）与TGFBR2基因不再相关。其他5个SNP未进行功能鉴定，但鉴于数据库的变化，这些SNP值得关注。需要对更大规模的KD患者群体进行进一步研究。
