摘要
目的探讨免疫相关鸟苷三磷酸酶M(IRGM)基因多态性与尘肺易感性的关系。方法采用病例–对照的研究方法,选择248例尘肺患者为病例组,275例年龄相近、同性别、同民族、同工种且工龄相近的非尘肺接尘工人为对照组。采用Sanger测序法检测病例组和对照组中IRGM基因三个单核苷酸多态性(SNP)位点的基因型和等位基因。应用SNPstats软件分析单个SNP和尘肺的相关性,应用在线软件SHEsis进行各个位点的连锁不平衡分析和单体型分析。结果IRGM基因rs4958846位点的TT基因型在病例组的分布频率高于对照组,TC与CC基因型在对照组中的分布频率高于病例组,等位基因T在病例组的分布频率高于对照组,等位基因C在对照组的分布频率高于病例组,差异均具有统计学意义(P<0.05)。IRGM基因rs4958842、rs4958843位点的基因型和等位基因在病例组和对照组中的分布差异均无统计学意义(P>0.05)。经连锁不平衡检验,IRGM的rs4958842、rs4958843、rs4958846三个基因两两位点之间均存在连锁不平衡(D’>0.7,r2>0.3)。对三个基因位点进行单体型分析,共构建4种单体型,其中ACT和ACC单体型在病例组和对照组中的频率分布差异具有统计学意义(P<0.05),所构建的其他单体型与尘肺的易感性无显著关联(P>0.05)。结论IRGM基因rs4958846位点的T等位基因和ACT单体型可能与尘肺的易感性有关。
Objective To investigate the relationship between immunity related GTPase M gene(IRGM)polymorphism and pneumoconiosis susceptibility.Methods Two hundred and forty-eight pneumoconiosis patients were selected as a case group,275 non-pneumoconiosis workers with similar age,sex,nationality,type of work and working age were selected as a control group.The genotypes and alleles of three single nucleotide polymorphisms(SNP)of IRGM were detected by Sanger sequencing in case group and control group.SNPstats software was used to analyze the correlation between single SNP and pneumoconiosis,and SHEsis software was used to analyze the linkage imbalance and haplotype of each locus.Results The distribution frequency of IRGM rs4958846 TT genotype in the case group was higher than that of the control group.The distribution frequency of TC and CC genotype in control group was higher than that of the case group.The distribution frequency of T allele in the case group was higher than that of the control group.The distribution frequency of C allele in the control group was higher than that of the case group.All of the differences were statistical significant(P<0.05).There was no statistical significance for the distribution difference between the two groups in terms of genotype and allele at IRGM rs4958842 and rs4958843(P>0.05).After linkage disequilibrium analysis to three gene loci at rs4958842,rs4958843 and rs4958846 of IRGM,there was linkage disequilibrium between each other gene loci(D’>0.7,r2>0.3).Haplotype analysis was conducted on three genetic loci and established four kinds of haplotypes,the frequency distribution of ACT and ACC haplotypes had statistical significances between the two groups(P<0.05),and the other haplotype had no significant correlation with the susceptibility of pneumoconiosis(P>0.05).Conclusion T allele and ACT haplotype of IRGM rs4958846 may be associated with pneumoconiosis susceptibility.
作者
王云
袁乐永
王梅芳
孟忠吉
段敬柱
杜士明
唐以军
WANG Yun;YUAN Leyong;WANG Meifang;MENG Zhongji;DUAN Jingzhu;DU Shiming;TANG Yijun(Department of Pulmonary and Critical Care Medicine,Taihe Hospital,Hubei University of Medicine,Shiyan,Hubei 442000,P.R.China;Department of Immunology,School of Basic Medical Sciences,Hubei University of Medicine,Shiyan,Hubei 442000,P.R.China;Institute of Biomedical Research,Taihe Hospital,Hubei University of Medicine,Shiyan,Hubei 442000,P.R.China;Department of Scientific Research,Taihe Hospital,Hubei University of Medicine,Shiyan,Hubei 442000,P.R.China)
出处
《中国呼吸与危重监护杂志》
CAS
CSCD
北大核心
2020年第4期366-370,共5页
Chinese Journal of Respiratory and Critical Care Medicine
基金
国家自然科学基金(81802090)
湖北省自然科学基金(2017CFB123)
湖北医药学院自由探索基金(FDFR201801)。
