自噬相关基因频率分布特征与肺结核相关性研究

目的 根据肺结核患者自噬相关基因(ATG)频率分布特征探讨ATG位点多态性与肺结核易感相关性.方法 应用SequenomMassArray质谱阵列技术对202例肺结核患者(病例组)及222例健康体检者(对照组)ATG的18个单核苷酸多态性(SNP)位点进行基因分型,统计分析各位点基因型与肺结核易感相关性.结果 在肺结核患者和对照组中,校正了性别、年龄等因素后,通过二元logistic回归分析发现ATG4A基因rs807185和rs5973822位点基因型和等位基因频率分布差异有统计学意义(P＜0.05).通过体质量指数(BMI)分层分析,发现这一差异在高BMI人群中更为显著,且均有病例组人群分布频率低于对照组的表现,其余16个SNP位点差异均无统计学意义.结论 ATG4A基因rs5973822和rs807185位点多态性可能与肺结核易感性相关联,且在高BMI群体中差异更显著.

Research on correlation between autophagy related gene frequency distribution characteristics and pulmonary tuberculosis

Objective To investigate the correlation between autophagy related gene(ATG) locus polymorphism and the pulmonary tuberculosis(PTB) susceptibility according to the frequency distribution characteristics of autophagy related gene in the patients with PTB.Methods Eighteen single nucleotide polymorphism (SNP) loci of autophagy related genes in 202 patients with PTB as the case group and 222 healthy controls were genotyped by SequenomMassArray mass spectrometry array technology.The correlation between the each locus genotype and the PTB susceptibility was statistically analyzed.Results In the PTB patients group and healthy control group,after correcting the factors of sex and age,the binary Logistic regression analysis found that the frequency distribution of genotype and allele had statistical difference between rs5973822 and rs807185 sites in ATG4A gene (P＜0.05).The stratified analysis by body mass index (BMI) found that this difference was more significant in the high BMI population,moreover the distribution frequency in the patient group was lower than that in the control group,and the other 16 SNP loci had no statistical difference.Conclusion ATG4A gene rs5973822 and rs807185 loci polymorphism may be negatively correlated with PTB susceptibility,moreover which is more significant in the high BMI group.