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。
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 （2,2=0.566, P=0.452） and allele frequency distribution （2＇2=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 C C （61.9%） and CT＋TT （38.1%）. There was significant difference in genotype frequency distribution between the two groups （3（2=5.546, P=-0.019）, but without significant difference in allele frequency distribution （22=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.
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2013年第9期767-770,共4页
Chinese Journal of Contemporary Pediatrics
基金
天津市卫生局科技基金攻关项目(11KG119)
关键词
转化生长因子β受体2
单核苷酸多态性
川崎病
冠状动脉损伤
儿童
Transforming growth factor-beta receptor 2
Single nucleotide polymorphism
Kawasaki disease
Coronary artery lesion
Child
