TGFBR2基因多态性与川崎病和冠状动脉损伤相关性的研究

Association of single nucleotide polymorphism in TGFBR2 gene with Kawasaki disease and coronary artery lesions

摘要:

目的 检测儿童转化生长因子β受体2(TGFBR2)基因多态性(rs1495592)的分布情况,并探讨其与川崎病及冠状动脉损伤的相关性。方法 应用基因测序技术对35例川崎病患儿(14例并发冠脉损害)的TGFBR2基因多态性(rs1495592)进行研究,另取25例正常同龄儿作对照。结合测序结果分析此多态性与川崎病及冠状动脉损伤的相关性。结果 病例组中基因型分布和等位基因频率分布与对照组相比差异均无统计学意义(分别χ²=0.566、0.216,分别P=0.452、0.642)。冠状动脉损害组基因型分布(CC 21.4%,CT+TT 78.6%)与非冠状动脉损害组基因型分布(CC 61.9%,CT+TT 38.1%)差异有统计学意义(χ²=5.546,P=0.019),而两组等位基因频率分布差异无统计学意义(χ²=3.673,P=0.055)。结论 儿童中TGFBR2基因多态性(rs1495592)可能与川崎病的发生无相关性,但与川崎病患儿的冠脉损害发生相关。

Abstract:

Objective To 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). Methods Thirty-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. Results There were no significant differences in genotype frequency distribution (χ²=0.566, P=0.452) and allele frequency distribution (χ²=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 (χ²=5.546, P=0.019), but without significant difference in allele frequency distribution (χ²=3.673, P=0.055). Conclusions The 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.