巨噬细胞衍生趋化因子启动区内基因多态性和肺结节病的相关性研究  

Roles of functional polymorphisms in the macrophage-derived chemokine gene promoter in sarcoidosis

作　　者：周艳秋 田颖 山口悦朗 张楠 管洁 周云芝 王洪武 

机构地区：[1]煤炭总医院呼吸内科,北京100028 [2]日本爱知医科大学呼吸内科

出　　处：《中华临床医师杂志（电子版）》2012年第24期8130-8135,共6页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的探讨巨噬细胞衍生趋化因子(MDC)基因多态性(SNPs)在肺结节病中的作用。方法采用放大受阻突变系统分别在肺结节病患者组及健康对照组检测MDC基因启动区-469(A/G),-721(C/T),-942(C/T)三个SNPs,采用ELISA法测定血清及肺泡灌洗液中MDC浓度。根据发病年龄特点将肺结节病患者分成40岁以下组和40岁及以上组。结果在所有肺结节病患者MDC-942(C/T)SNP各基因型分布和对照组间差异有统计学意义[P=0.01,OR:0.72(0.56～0.93)],并且该SNP在40岁以下患者组和对照组间差异更加显著,有统计学意义[P=0.0032,OR:0.58(0.40～0.83)]。在肺结节病组及对照组均发现MDC-942(C/T)SNP各基因型间血清内MDC水平差异有统计学意义(结节病组:P<0.05;对照组:P<0.05),在发病年龄小于40岁患者组该SNP各基因型间血清MDC水平差异同样有统计学意义(P<0.05),同时在肺结节病患者该SNP各基因型间肺泡灌洗液中MDC水平差异亦有统计学意义(P=0.03)。结论 MDC-942(C/T)SNP是肺结节病发病的风险因子。Objective To investigate the clinical significance of the single nucleotide polymorphisms(SNPs)in the macrophage-derived chemokine(MDC)gene promoter in sarcoidosis.Methods Genotyping of three SNPs,-469(A/G),-721(C/T),and-942(C/T),in the MDC gene promoter was performed by using the amplification refractory mutation system(ARMS).Levels of MDC in serum and bronchoalveolar lavage fluid(BALF)were measured by specific enzyme-linked immunosorbent assay kits.The study subjects were divided into two subgroups by age onset:more than 40 years old group and less than 40 years old group.Results There was significant difference in the genotype distribution of MDC-942(C/T)SNP between controls and all patients [P=0.01,OR:0.72(0.56-0.93)],and the significant difference was more remarkable in less than 40 years old subgroup in sarcoidosis [P=0.0032,OR:0.58(0.40-0.83)].Serum levels of MDC in all patients were significant difference between three genotypes of CC,CT,and TT of MDC-942(C/T)SNP(P<0.05),likewise the serum levels of MDC were significant difference in less than 40 years old patients(P<0.05)with sarcoidosis and in controls(P<0.05).MDC levels in BALF similarly were significant difference in sarcoidosis between the three genotypes(P=0.03).Conclusions MDC-942(C/T)SNP in MDC gene promoter was risk factor in sarcoidosis.

关 键 词：结节病 肺 趋化因子CCL22 多态性 单核苷酸 

分 类 号：R563.9[医药卫生—呼吸系统]