北部湾人群Dectin-1的基因多态性与马尔尼菲青霉菌病易感性的相关性研究

摘要

目的:探讨北部湾人群C型凝集素-1(Dectin-1)基因多态性与马尔尼菲青霉菌病易感性的相关性.方法:选取北部湾地区的马尔尼菲青霉菌(PM)病患者71例为病例组,另选北部湾地区的71例体检正常者为对照组,直接测序检测rs16910526、rs16910527位点的基因型及等位基因频率,并分析其与马尔尼菲青霉菌病易感性的相关性.结果:(1)对照组和病例组之间rs16910526有三种基因型GG、GT、TT,两组之间基因型和等位基因频率比较差异不显著(P＞0.05).(2)对照组和病例组之间rs16910527有三种基因型AA、AC、CC,且病例组AC的基因型频率显著高于对照组(P＜0.05).(3)局限性、播散性PM患者rs16910526、rs16910527基因型和等位基因频率比较差异不显著(P＞0.05).(4)rs16910526、rs16910527的4种单倍型:GT、AC、AT、TT,位于同一连锁不平衡区域内,且对照组和病例组A/C的分布频率比较差异具有统计学意义(P＜0.05).结论:北部湾人群Dectin-1的rs16910527位点与马尔尼菲青霉菌病易感性相关,且A/C能提高马尔尼菲青霉菌病的易感性.%Objective:To explore the correlation between Gene polymorphism of Dectin-1 of Northern Gulf population and susceptibility of penicilliosis mameffei.Methods:71 patients with Penicillium marneffei (PM) from Northern Gulf population were chosen as case group,and 71 healthy people from the same area,as control group.The genotype and allele frequencies ofrs16910526 and rs 16910527 loci of the two groups were detected by direct sequencing and their correlation with susceptibility of penicilliosis mameffei was analyzed.Results:(1) In the control group and the case group,rs16910526 has three kinds of genotypes:GG,GT,TT;there were not significant differences in genotype and allele frequency between the two groups (P＞0.05).(2) In the control group and the case group,rs16910527 has three kinds ofgenotypes:AA,AC,CC;the genotype frequency of AC in the case group was significantly higher than that of the control group (P ＜ 0.05).(3) The were not significantly differences in the genotype and allele frequency of rs16910526 and rs16910527 between the localized and disseminated PM patients (P ＞0.05).(4) 4 haplotypes (GT,AC,AT,TT) of rs16910526 and rs16910527 were located in the same linkage disequilibrium region,and the distribution frequency of A/C in the control group and the case group were statistically significant (P ＜ 0.05).Conclusion:The rs16910527 loci in Dectin-1 of Northern Gulf population was associated with susceptibility ofpenicilliosis marneffei,and A/C can increase the susceptibility ofpenicilliosis mameffei.