川崎病患儿FCGR2A基因单核苷酸多态性的研究

目的：探讨中国汉族儿童FCGR2A基因 rs1801274位点单核苷酸多态性（SNP）与川崎病（KD）易感性及静脉注射免疫球蛋白(IVIG)治疗KD疗效的关系。方法：应用聚合酶链反应（PCR）联合直接基因测序技术对35例KD患儿和25例健康儿童的FCGR2A基因SNP rs1801274位点进行检测和分析，并将KD患儿根据IVIG治疗后有无并发冠脉损害（CAL）分为CAL和无CAL（NCAL）两个亚组。结果：在研究对象中均检测到FCGR2A基因rs1801274位点，该位点存在3种基因型(AA、AG、GG)。该SNP位点的基因型分布及等位基因频率在KD组与对照组及CAL组与NCAL组之间比较差异均有统计学意义（P<0.05）。其中携带A等位基因或AA基因型者发生KD的危险性大(分别OR=3.39,95%CI:1.53~7.50;OR=4.93,95%CI：1.61~15.1)；携带基因型AG或G等位基因使KD患儿发生CAL的危险性增高（分别OR=5.43,95%CI:1.06~27.8;OR=4.88,95%CI: 1.44~16.5）。结论：FCGR2A基因rs1801274位点SNP可能是影响中国汉族儿童KD易感性以及IVIG治疗KD疗效的一个重要因素。

Single nucleotide polymorphism of FCGR2A gene in Han Chinese children with Kawasaki disease

Objective To study the association of FCGR2A gene single nucleotide polymorphism(SNP) rs1801274 with Kawasaki disease(KD) susceptibility and the efficacy of intravenous immunoglobulin(IVIG) therapy in Han Chinese children.Methods Thirty-five KD children and 25 age-and gender-matched healthy children(control group) were enrolled in the study.Polymerase chain reaction(PCR) and gene sequence analysis were applied to detect SNP of FCGR2A gene rs1801274.These KD patients were classified into two subgroups based on the presence of coronary artery lesion(CAL) following IVIG therapy: CAL(n=13) and non-CAL(n=22).Results FCGR2A gene SNP rs1801274 was detected in all subjects,including three genotypes(AA,AG and GG).For FCGR2A gene SNP rs1801274,there were significant differences in the genotype and allele frequencies between the KD and control groups(P<0.05),and significant differences in the genotype and allele frequencies were also found between the CAL and non-CAL subgroups(P<0.05).A allele and AA genotype were linked to an increased risk of KD susceptibility(A allele: OR=3.39,95%CI:1.53-7.50;AA genotype: OR=4.93,95%CI:1.61-15.1).Both AG(OR=5.43,95%CI:1.06-27.8) and G allele(OR=4.88,95%CI:1.44-16.5) were linked to an increased risk of CAL in KD children.Conclusions Polymorphism of the FCGR2A gene SNP rs1801274 is one of the important factors probably influencing susceptibility to KD and efficacy of IVIG therapy on KD in Han Chinese children.