细胞间黏附分子-3多态性和血浆浓度与国人布-加综合征关系研究

Study on the relationship of intercellular adhesion molecule-3 polymorphism and its plasma concentration with the occurrence of Budd-Chiari syndrome in Chinese

目的探讨国人布-加综合征(BCS)发病机制与细胞间黏附分子(ICAM)-3基因单核苷酸多态性(SNP)位点rs117942573基因型分布和ICAM-3血浆浓度的关系。方法收集纳入2011年1月至2015年1月徐州医科大学附属医院确诊为原发性BCS患者300例(BCS组),同期纳入体检中心体检的健康人300例(对照组)。采用自制问卷对纳入对象进行面对面流行病学调查,收集BCS患者病案信息。采用试剂盒提取全血基因组DNA,竞争性等位基因特异性聚合酶链反应(KASP)检测rs117942573基因型。采用酶联免疫吸附试验(ELISA)检测血浆中ICAM-3。结果 BCS组、对照组基因型分布差异有统计学意义(χ2=4.754,P=0.029)。BCS组血浆ICAM-3浓度中位值为875.99 pg/mL(P25=648.87 pg/mL,P75=1 435.22 pg/mL),高于对照组(中位数为601.81 pg/mL,P25=502.89 pg/mL,P75=888.90 pg/mL),差异有显著统计学意义(Z=-7.342,P<0.001)。结论 BCS组与对照组ICAM-3基因型分布及血浆浓度存在显著性差异,提示rs117942573可增加BCS风险,ICAM-3表达增加可能与BCS肝脏损害有关。

Objective To investigate the relationship of the pathogenesis of Budd-Chiari syndrome(BCS)in Chinese with the genotype distribution of the intercellular adhesion molecule-3(ICAM-3)gene single nucleotide polymorphism(SNP)loci(rs117942573)and the plasma concentration of ICAM-3.Methods A total of 300 patients with confirmed primary BCS(BCS group),who were encountered in the Affiliated Hospital of Xuzhou Medical University,China,during the period from January 2011 to January 2015,were enrolled in this study.A total of 300 healthy subjects,who made the physical examination at the health screening center during the same period,were collected and used as control group.By using self-made questionnaire,face to face epidemiological investigation of participants was conducted,and the medical record information of BCS patients were collected.The reagent kit was used to extract the genomic DNA from whole blood,and the genotyping of rs117942573 was detected by competitive allele-specific polymerase chain reaction(KASP).The enzyme-linked immunosorbent assay(ELISA)was adopted to test plasma ICAM-3 concentration.Results The difference in genotype distribution between BCS group and control group was statistically significant(χ2=4.754,P=0.029).The median plasma ICAM-3 concentration in BCS group was 875.99 pg/mL(P25=648.87 pg/mL,P75=1 435.22 pg/mL),which was higher than 601.81 pg/mL(P25=502.89 pg/mL,P75=888.90 pg/mL)in the control group,the difference between BCS group and the control group was statistically significant(Z=-7.342,P<0.001).Conclusion Statistically significant differences in the genotype distribution and the plasma concentration of ICAM-3 exist between BCS group and the control group,which indicate that the rs117942573 may increase the risk of BCS and the increased expression of ICAM-3 may be related to the liver damage in BCS patients.(J Intervent Radiol,2019,28:319-323)