【摘要】 目的探讨瘦素(LEP)及瘦素受体(LEPR)水平在川崎病(KD)患儿中的变化及临床意义,分析LEP基因rs2167270、LEPR基因rs1137100多态性与川崎病易感性之间的关系。方法选取53例汉族川崎病患儿为实验组,年龄6个月～5岁；选取同期行健康体检的53例汉族儿童为对照组。运用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)分析各组LEP基因rs2167270、LEPR基因rs1137100多态性。结果实验组中发热53例(100.0%),皮疹40例(75.5%),非化脓性眼结合膜充血48例(90.6%),口腔黏膜充血29例(54.7%),非化脓性淋巴结肿大46例(86.8%),手足硬肿32例(60.4%),指趾端脱皮20例(37.7%),肛周脱皮14例(26.4%),冠状动脉扩张4例(7.5%)。实验组LEP水平为(0.290±0.055)ng/ml,高于对照组的(0.209±0.039)ng/ml,差异有统计学意义(P<0.05)。实验组LEPR水平为(10.951±2.530)ng/ml,高于对照组的(7.238±1.780)ng/ml,差异有统计学意义(P<0.05)。LEP基因rs2167270位点的多态性表现为G突变为A,基因型为AA、GA、GG。LEPR基因rs1137100位点多态性表现为A突变为G,基因型为AA、AG、GG。实验组LEP基因rs2167270位点GG、GA、AA基因型分布分别为32、18、3例；对照组分别为34、7、12例。两组LEP基因rs2167270位点GG、GA、AA基因型分布比较差异有统计学意义(P<0.05);G、A等位基因分布比较差异无统计学意义(P>0.05)。两组LEPR基因rs1137100位点AA、AG、GG基因型分布及A、G等位基因分布比较,差异无统计学意义(P>0.05)。结论LEP、LEPR水平可能有助于监测川崎病病程；LEP基因rs2167270位点多态性与川崎病发病有关,携带AA基因型可能使川崎病发病率降低,而GA基因型可能使川崎病发病率增高；LEPR基因rs1137100位点多态性与川崎病发病无关。更多还原

【Abstract】 Objective To investigate the changes and clinical significance of leptin (LEP) and leptin receptor (LEPR) levels in children with Kawasaki’s disease (KD),and analyze the correlation between the polymorphism of LEP gene rs2167270 and LEPR gene rs1137100 and susceptibility to Kawasaki’s disease.Methods 53 Han children with Kawasaki’s disease were selected as the experimental group,aged 6 months-5years;53 Han children who underwent physical examination at the same time were selected as the control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the polymorphism of LEP gene rs2167270 and LEPR gene rs1137100 in each group.Results In the experimental group,there were 53 cases (100.0%) of fever,40 cases (75.5%) of rash,48 cases (90.6%) of non-suppurative conjunctival membrane congestion,29 cases (54.7%) of oral mucosa congestion,46 cases (86.8%) of nonsuppurative enlarged lymph nodes,32 cases (60.4%) of hand and foot scleroma,20 cases (37.7%) of desquamation at the fingertip,14 cases (26.4%) of perianal desquamation,and 4 cases (7.5%) of coronary artery dilation.The LEP level in the experimental group was (0.290±0.055) ng/ml,which was higher than that of (0.209±0.039) ng/ml in the control group,and the difference was statistically significant (P<0.05).The LEPR level in the experimental group was (10.951±2.530) ng/ml,which was higher than that of (7.238±1.780) ng/ml in the control group,the difference was statistically significant (P<0.05).The polymorphism at the rs2167270 locus of the LEP gene exhibited a G mutation to A and the genotypes were AA,GA,and GG.The polymorphism at the rs1137100 locus of the LEPR gene exhibited an A mutation to G,and the genotypes were AA,AG,and GG.The distribution of GG,GA and AA genotypes at the rs2167270 locus of LEP gene in the experimental group were 32,18 and 3 cases,respectively,and those in the control group were 34,7 and 12 cases,respectively.The differences in the distribution of GG,GA and AA genotypes at the rs2167270 locus of the LEP gene between the two groups were statistically significant (P<0.05);the differences in the distribution of G and A alleles were not statistically significant (P>0.05).The differences in the distribution of AA,AG,and GG genotypes at the rs1137100 locus of the LEPR gene and the distribution of A and G alleles between the two groups were not statistically significant(P>0.05).Conclusion LEP and LEPR levels may help monitor the course of Kawasaki’s disease;LEP gene rs2167270 locus polymorphism was associated with Kawasaki’s disease onset,and carrying AA genotype may reduce Kawasaki’s disease onset,while GA genotype may increase Kawasaki’s disease onset;LEPR gene rs1137100 locus polymorphism was not associated with Kawasaki’s disease onset.更多还原