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目的:探讨嗜乳脂蛋白样-2基因(BTNL2)2个单核苷酸多态性位点与我国汉族川崎病患儿易感性及冠状动脉损害(CAL)之间的关系。方法:选取2013年9月至2014年9月内蒙古自治区人民医院儿科收治的66例川崎病患儿作为川崎病组,男44例,女22例,年龄(2.56±1.76)岁,年龄范围为8个月至12岁。另选取同期进行健康体检的75例健康儿童作为健康组,男61例,女14例,年龄(3.00±1.86)岁,年龄范围为8个月至12岁。纳入的所有儿童均为内蒙古自治区汉族。根据是否并发CAL,将川崎病组患儿分为CAL组(n n=16)和非CAL(N-CAL)组(n n=50)。采用Chelex-100、IonPGM测序及Barcode测序数据分析流程,得出所有样本BTNL2基因rs1555115、rs2395158两个多态性位点的基因型。n 结果:川崎病组与健康组BTNL2基因rs1555115 CC基因型与CC+CG基因型分布比较,差异无统计学意义(n P=0.823);两组的C、G等位基因分布比较,差异无统计学意义(n P=0.989)。川崎病组与健康组的BTNL2基因rs2395158 AA基因型与AG+GG基因型分布比较,差异无统计学意义(n P=0.275);两组的A、G等位基因分布比较,差异无统计学意义(n P=0.286)。CAL组与N-CAL组的BTNL2基因rs1555115 CC基因型与CC+CG基因型分布比较,差异无统计学意义(n P=0.887);两组的C、G等位基因分布比较,差异无统计学意义(n P=0.971)。CAL组与N-CAL组的BTNL2基因rs2395158 AA基因型与AG+GG基因型分布比较,差异无统计学意义(n P=0.072);两组的A、G等位基因分布比较,差异有统计学意义(n P=0.015)。n 结论:BTNL2基因中,携带rs2395158位点G等位基因及AG、GG基因型的儿童较携带A等位基因、AA基因型更容易发生川崎病,有较高的患病风险。A、G等位基因可能是发生冠状动脉损害的危险因素,增加了川崎病合并冠状动脉损害的危险度。“,”Objective:To investigate the relationship between two single nucleotide polymorphism of butyrophilin-like 2(BTNL2)gene and susceptibility to Kawasaki disease and coronary artery lesion(CAL)in Chinese Han children.Methods:A retrospective study was performed on 66 cases of patients with Kawasaki disease(Kawasaki disease group)who were admitted in the department of Pediatric of People′s Hospital of Inner Mongolia Autonomous Region from September 2013 to September 2014, 44 males, 22 females, aged(2.56±1.76)years old, ranging from 8 months to 12 years old.A total of 75 healthy children who underwent physical examination at the same time were selected as the health group, including 61 males and 14 females, aged(3.00±1.86)years old, ranging from 8 months to 12 years old.All the children included were Han ethnic group from Inner Mongolia Autonomous Region.Children in the Kawasaki disease group were divided into the CAL group(16 cases)and the N-CAL group(50 cases)according to whether or not they had CAL.The genotypes of rs1555115 and rs2395158 polymorphisms of BTNL2 genes were obtained by using the data analysis procedures of Chelex-100, IonPGM and Barcode sequencing.Results:There was no significant difference between the distribution of BTNL2 gene rs1555115 CC genotype and CC + CG genotype between the Kawasaki disease group and the healthy group(n P=0.823). There was no significant difference in the distribution of C and G alleles between the two groups(n P=0.989). There was no statistically significant difference between the distribution of BTNL2 gene rs2395158 AA genotype and AG + GG genotype between the Kawasaki disease group and the healthy group(n P=0.275). There was no significant difference in the distribution of A and G alleles between the two groups(n P=0.286). There was no significant difference in the distribution of BTNL2 gene rs1555115 CC genotype and CC+ CG genotype between the CAL group and the N-CAL group(n P=0.887). There was no significant difference in the distribution of C and G alleles between the two groups(n P=0.971). There was no statistically significant difference between the distribution of BTNL2 gene rs2395158 AA genotype and AG+ GG genotype between the CAL group and the N-CAL group(n P=0.072). The distribution of A and G alleles in the two groups was statistically significant(n P=0.015).n Conclusion:In the BTNL2 gene, children carrying the G allele at rs2395158 and the AG and GG genotypes were more likely to develop Kawasaki disease than children carrying the A allele and AA genotype, and had a higher risk of disease.A and G alleles may be risk factors for coronary artery damage and increase the risk of Kawasaki disease with coronary artery lesion.