ADAMTS-7基因rs3825807及rs1994016位点多态性与KD发病及CAL的关联性分析

The association between polymorphism of ADAMTS-7 gene and the pathogenesis of KD and coronary artery injury

目的分析ADAMTS-7基因rs3825807、rs1994016位点多态性与川崎病(KD)发病及其冠状动脉损伤(CAL)是否存在关联性。方法选取KD患儿100例为KD组,健康体检儿童100例为健康组。提取两组外周血DNA进行基因测序,比较两组ADAMTS-7基因rs3825807位点及rs1994016位点的多态性差异。KD组根据是否存在冠状动脉损伤分为冠状动脉损伤组(KD-CAL组)和无冠状动脉损伤组(KD-NCAL组),比较两组ADAMTS-7基因rs3825807位点及rs1994016位点的多态性差异。结果KD组与健康组比较,KD-NCAL组与KD-CAL组比较,ADAMTS-7基因rs3825807位点A、G等位基因频率和AA、AG、GG基因型频率以及rs1994016位点C、T等位基因频率和CC、CT、TT基因型频率差异均无统计学意义(P>0.05)。结论ADAMTS-7基因rs3825807、rs1994016位点多态性与KD的发病及CAL不存在明显关联性。

Aim To investigate the association of polymorphisms at loci rs3825807 and rs1994016 of ADAMTS-7 gene with the pathogenesis of Kawasaki disease(KD)and coronary artery lesion(CAL).Methods 100 children with KD were selected as the KD group,and 100 healthy children undergoing physical examinations were selected as the healthy group.Two sets of peripheral blood DNA were extracted for gene sequencing to compare the polymorphism differences at rs3825807 and rs1994016 loci of the ADAMTS-7 gene between the two groups.The KD group was divided into a coronary artery injury group(KD-CAL group)and a non-coronary artery injury group(KD-NCAL group)based on the presence of coronary artery injury.The polymorphism differences at ADAMTS-7 rs3825807 and rs1994016 loci were compared between the two groups.Results The frequency of polymorphic A and G alleles,the genotype frequencies of AA,AG,and GG at the rs3825807 locus of ADAMTS-7 gene,as well as the frequency of polymorphic C and T alleles,the genotype frequencies of CC,CT,and TT at the rs1994016 locus,were not statistically significant different between the KD group and the healthy group,or between the KD-NCAL group and the KD-CAL group(P>0.05).Conclusion There is no significant association between polymorphisms at the rs3825807 and rs1994016 loci of ADAMTS-7 gene and the incidence of KD and CAL.