Association of the FCN2 Gene Single Nucleotide Polymorphisms with Susceptibility to Pulmonary Tuberculosis.
Association of the FCN2 Gene Single Nucleotide Polymorphisms with Susceptibility to Pulmonary Tuberculosis.
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FCN2基因单核苷酸多态性与肺结核易感性的关联。
DOI：
10.1371/journal.pone.0138356
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Li JC
中科院分区：
文献类型：
--
作者：
Xu DD;Wang C;Jiang F;Wei LL;Shi LY;Yu XM;Liu CM;Liu XH;Feng XM;Ping ZP;Jiang TT;Chen ZL;Li ZJ;Li JC
Ficolin-2 （FCN2）是一种先天免疫模式识别分子，可以激活补体途径、调理吞噬作用和消除病原体。本研究旨在探讨FCN2基因单核苷酸多态性（snp）与肺结核（TB）易感性的关系。采用PCR扩增和DNA测序方法，在健康对照组（n = 254）和肺结核组（n = 282）中，对FCN2基因8外显子（+6359 C>T和+6424 G>T）和启动子区域（-986 G b> A、-602 G>A、-557 A>G、-64 A>C和-4 A>G）共7个snp进行基因分型。采用logistic回归方法分析snp与肺结核的相关性。结果显示，7个snp的等位基因频率分布在肺结核组与健康对照组之间无显著差异。然而，变异纯合基因型的频率（P = 0.037, -557 A>G; P = 0.038, -64 A>C; P = 0.024, +6424 G>T）在TB组显著低于对照组。在调整了年龄和性别后，发现这些变异纯合基因型是与肺结核相关的隐性模型。此外，发现- 64a >C （P = 0.047）和+6424 G>T （P = 0.03）是与肺结核相关的共显性模型。除-602 G>A位点外，7个snp位点之间存在较强的连锁不平衡（r2 > 0.80, P < 0.0001）。因此，FCN2基因的-557 A>G、-64 A>C和+6424 G>T snp与肺结核相关，可能是肺结核的保护因素。本研究为从遗传学角度预防和控制结核传播提供了新的思路。
Ficolin-2 (FCN2) is an innate immune pattern recognition molecule that can activate the complement pathway, opsonophagocytosis, and elimination of the pathogens. The present study aimed to investigate the association of the FCN2 gene single nucleotide polymorphisms (SNPs) with susceptibility to pulmonary tuberculosis (TB). A total of seven SNPs in exon 8 (+6359 C>T and +6424 G>T) and in the promoter region (-986 G>A, -602 G>A, -557 A>G, -64 A>C and -4 A>G) of the FCN2 gene were genotyped using the PCR amplification and DNA sequencing methods in the healthy controls group (n = 254) and the pulmonary TB group (n = 282). The correlation between SNPs and pulmonary TB was analyzed using the logistic regression method. The results showed that there were no significant differences in the distribution of allelic frequencies of seven SNPs between the pulmonary TB group and the healthy controls group. However, the frequency of the variant homozygous genotype (P = 0.037, -557 A>G; P = 0.038, -64 A>C; P = 0.024, +6424 G>T) in the TB group was significantly lower than the control group. After adjustment for age and gender, these variant homozygous genotypes were found to be recessive models in association with pulmonary TB. In addition, -64 A>C (P = 0.047) and +6424 G>T (P = 0.03) were found to be codominant models in association with pulmonary TB. There was strong linkage disequilibrium (r2 > 0.80, P < 0.0001) between 7 SNPs except the -602 G>A site. Therefore, -557 A>G, -64 A>C and +6424 G>T SNPs of the FCN2 gene were correlated with pulmonary TB, and may be protective factors for TB. This study provides a novel idea for the prevention and control of TB transmission from a genetics perspective.