SOCS1基因单核苷酸多态性与凉山彝族人群肺结核发生风险的关联性研究

发布时间：2018-01-26 08:09

本文关键词： 肺结核细胞因子信号传导抑制因子单核苷酸多态性遗传关联彝族　出处：《第三军医大学学报》2017年03期 　论文类型：期刊论文

【摘要】：目的研究SOCS1基因的2个标签单核苷酸多态性位点(tag single nucleotide polymorphisms,Tag SNP)rs243327、rs33932899与凉山彝族人群肺结核发生风险的遗传关联性。方法2015年3月至2016年6月在凉山彝族自治州共采集188例彝族肺结核患者(肺结核组)和229例彝族健康人(健康对照组)全血样本。运用直接测序法对rs243327、rs33932899进行基因分型,应用哈-温平衡检验所选样本的群体代表性,采用卡方检验比较肺结核组和健康对照组之间基因型和等位基因频率分布的差异,评价SOCS1基因SNP与肺结核发生风险的关联性。结果 rs243327、rs33932899在肺结核组和健康对照组中的基因型分布均符合哈-温平衡。在rs243327位点处肺结核组CC基因型频率显著高于健康对照组(CC vs CT:OR=1.611,95%CI=1.058-2.453,P=0.026;CC vs CT+TT:OR=1.651,95%CI=1.107-2.461,P=0.014),提示rs243327位点CC基因型可能增加凉山彝族人群肺结核的发生风险,可能是凉山彝族人群肺结核的易感基因型;C等位基因频率亦显著高于健康对照组(C vs T:OR=1.516,95%CI=1.089-2.109,P=0.013),提示C等位基因可能是凉山彝族人群肺结核的易感等位基因。在rs33932899位点处基因型和等位基因分布在肺结核组和健康对照组之间均无统计学差异(GG vs CG:OR=1.148,95%CI=0.762-1.731,P=0.436;GG vs CC:OR=2.184,95%CI=0.874-5.454,P=0.088;GG/CG+CC:OR=1.229,95%CI=0.875-1.928,P=0.193;G vs C:OR=1.290,95%CI=0.932-1.785,P=0.124),提示rs33932899位点可能与凉山彝族人群肺结核的发生风险无相关性。结论 SOCS1基因单核苷酸多态性可能与凉山彝族人群肺结核的发生发展存在遗传关联。
[Abstract]:Objective to study two tagged single nucleotide polymorphisms (SNPs) of SOCS1 gene named tag single nucleotide polymorphisms. Tag SNP)rs243327. Methods from March 2015 to June 2016, a total of 188 Yi patients with pulmonary tuberculosis were collected in Liangshan Yi Autonomous Prefecture from March 2015 to June 2016. (. Pulmonary tuberculosis group) and 229 healthy people of Yi nationality (healthy control group) were collected from the whole blood samples. Rs243327 was determined by direct sequencing. Rs33932899 genotyping was carried out, and the population representation of selected samples was tested by Ha-temperature balance test. The frequency distribution of genotype and allele was compared between pulmonary tuberculosis group and healthy control group by chi-square test. To evaluate the association between SOCS1 gene SNP and the risk of pulmonary tuberculosis. Results rs243327. The genotype distribution of rs33932899 in pulmonary tuberculosis group and healthy control group was in accordance with the Ha-temperature equilibrium, and the frequency of CC genotype in tuberculosis group at rs243327 locus was significantly higher than that in healthy control group (P < 0.05). CC vs CT:OR=1.611. 95CIN 1.058-2.453Pu 0.026; CC vs CT TTOR 1.65195 CIQ 1.107-2.461P0.014). It is suggested that CC genotype of rs243327 locus may increase the risk of pulmonary tuberculosis in Yi nationality of Liangshan, and it may be the susceptible genotype of tuberculosis in Yi nationality of Liangshan. The frequency of C allele was also significantly higher than that of healthy control group (C vs T: 1. 51695 CI 1.089-2.109). It suggests that C allele may be a susceptible allele to pulmonary tuberculosis in Yi nationality of Liangshan. There is no significant difference in genotype and allele distribution at rs33932899 locus between pulmonary tuberculosis group and healthy control group. Different (. GG vs CG:OR=1.148. 95 CIN 0.762-1.731Pu 0.436; GG vs CCO: 2.184 / 95, CIQ 0.874-5.454P0. 088; GG/CG CCO 1.229995 / 0.875-1.928 Pu 0.1993; G vs C / O 1.290 / 95 / CIQ = 0.932-1.785 / P = 0.124). The results suggest that the rs33932899 locus may not be associated with the risk of pulmonary tuberculosis in Yi nationality of Liangshan. The single nucleotide polymorphism of SOCS1 gene may be associated with the occurrence and development of pulmonary tuberculosis in Yi nationality of Liangshan.
【作者单位】：第三军医大学大坪医院野战外科研究所检验科;中国人民解放军第519医院检验科;中国人民解放军第519医院医务处;西昌市人民医院检验科;
【基金】：国家自然科学基金面上项目(81371760) 国家传染病重大专项(2013ZX10003006-003-002)~~
【分类号】：R521
【正文快照】： 西昌,西昌市人民医院检验科4)this study.Their blood samples were collected during March 2015 and June 2016 in Liangshan Yi AutonomousPrefecture.Two tag SNP polymorphisms were analyzed by gene sequencing,and the genotype and allelefrequency between pulmonar

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