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Abstract：
The immune checkpoint proteins were reported to involve to host resistance to Mycobacteria tuberculosis (Mtb). Here, we evaluated 11 single nucleotide polymorphisms (SNPs) in PDCD1, CTLA4, and HAVCR2 genes between participants with and without TB infection. Genomic DNA isolated from 285 patients with TB and 270 controls without TB infection were used to perform the genotyping assay. Odds ratios were used to characterize the association of 11 SNPs with TB risk. In this study, the various genotypes of the 11 SNPs did not differ significantly in frequency between the non-TB and TB groups. When patients were stratified by sex, however, men differed significantly from women in genotype frequencies at HAVCR2 rs13170556. Odds ratios indicated that rs2227982, rs13170556, rs231775, and rs231779 were sex-specifically associated with TB risk. In addition, the combinations of rs2227982/rs13170556 GA/TC in men and the A-C-C haplotype of rs231775-rs231777-rs231779 in women were significantly associated with TB risk. Our results indicate that rs2227982 in PDCD1 and rs13170556 in HAVCR2 are associated with increased TB susceptibility in men and that the CTLA4 haplotype appears protective against TB in women.
摘要：
据报道,免疫检查点蛋白涉及宿主对结核分枝杆菌(Mtb)的抗性。这里,我们评估了有结核感染和无结核感染参与者之间PDCD1,CTLA4和HAVCR2基因的11个单核苷酸多态性(SNP).使用从285名TB患者和270名没有TB感染的对照中分离的基因组DNA进行基因分型测定。使用几率来表征11个SNP与TB风险的关联。在这项研究中,11个SNP的各种基因型在非TB组和TB组之间的频率没有显著差异.当患者按性别分层时，然而,男性与女性在HAVCR2rs13170556的基因型频率上有显著差异.赔率比表明rs2227982、rs13170556、rs231775和rs231779与TB风险呈性别特异性相关。此外,男性rs2227982/rs13170556GA/TC和女性rs231775-rs231777-rs231779的A-C-C单倍型与TB风险显著相关.我们的结果表明，PDCD1中的rs2227982和HAVCR2中的rs13170556与男性结核病易感性增加有关，并且CTLA4单倍型似乎对女性结核病具有保护作用。
