SAA1基因rs4638289及rs7131332位点多态性与川崎病的相关性研究

Association of rs4638289 and rs7131332 polymorphisms of the serum amyloid A1 gene with Kawasaki disease

摘要:

目的 探讨血清淀粉样蛋白A1（SAA1）基因rs4638289、rs7131332位点多态性与川崎病（KD）患儿发病及其并发冠状动脉病变（CAL）的相关性。方法 随机选取2013~2017年间住院治疗的105例汉族KD患儿为KD组，另选取同期行健康体检的100例汉族儿童为对照组。KD组根据是否合并CAL，分为CAL组（n=23）和无冠状动脉病变（NCAL）组（n=82）。运用聚合酶链反应-限制性片段长度多态性分析法分析各组SAA1基因rs4638289、rs7131332位点多态性。结果 KD组SAA1基因rs4638289位点AA、AT、TT基因型分布和A、T等位基因分布与对照组比较差异均无统计学意义（P > 0.05）。CAL组rs4638289位点AA、AT、TT基因型分布与NCAL组比较差异有统计学意义（P=0.016），A、T等位基因分布比较差异无统计学意义（P > 0.05）；携带AT基因型是KD并发CAL的保护因素（OR=0.276，95% CI：0.099~0.772，P=0.011）。KD组SAA1基因rs7131332位点AA、AG、GG基因型分布和A、G等位基因分布与对照组比较差异无统计学意义（P > 0.05）。CAL组rs7131332位点AA、AG、GG基因型分布和A、G等位基因分布与NCAL组比较差异无统计学意义（P > 0.05）。结论 SAA1基因rs4638289、rs7131332位点多态性与KD发病无关，但rs4638289位点多态性与KD并发CAL有关，携带AT基因型可能使KD并发CAL风险降低。

Abstract:

Objective To study the association of the polymorphisms of the serum amyloid A1 (SAA1) gene at rs4638289 and rs7131332 loci with Kawasaki disease (KD) and its complication coronary artery lesion (CAL) in children. Methods A total of 105 Han children with KD who were hospitalized and treated from 2013 to 2017 were enrolled as the KD group. A total of 100 Han children who underwent physical examination were enrolled as the control group. According to the presence or absence of CAL, the KD group was further divided into a CAL group with 23 children and a non-CAL (NCAL) group with 82 children. Polymerase chain reaction-restriction fragment length polymorphism was used to investigate the polymorphisms of the SAA1 gene at rs4638289 and rs7131332 loci. Results For the locus rs4638289 of the SAA1 gene, there were no significant differences between the KD and control groups in the genotype frequencies of AA, AT, and TT and the allele frequencies of A and T (P > 0.05). But there were significant differences between the CAL and NCAL groups in the genotype frequencies of AA, AT, and TT (P=0.016), while there were no significant differences in the allele frequencies of A and T (P > 0.05). AT genotype was a protective factor against CAL (OR=0.276, 95%CI:0.099-0.772, P=0.011). For the locus rs7131332 of the SAA1 gene, there were no significant differences between the KD and control groups in the genotype frequencies of AA, AG, and GG and the allele frequencies of A and G (P > 0.05). There were also no significant differences between the CAL and NCAL groups in the genotype frequencies of AA, AG, and GG and the allele frequencies of A and G (P > 0.05). Conclusions Polymorphisms of the SAA1 gene at loci rs4638289 and rs7131332 are not associated with the onset of KD, while the polymorphism at the locus rs4638289 is associated with CAL in KD patients. KD patients with genotype AT may have a reduced risk of CAL.