PTX3 gene polymorphism associated with cryptococcosis in HIV-uninfected Chinese patients

For Chinese Han populations, cryptococcosis are more likely to occur in HIV-uninfected patients instead of HIV-infected patients compared with other countries and regions, implying that there may be genetic predisposing factors for cryptococcosis in the Chinese Han populations. However, the retail mechanism has not been clarified.

We aimed to conduct an association analysis between the single nucleotide polymorphisms (SNPs) of pattern recognition receptors (PRR) genes and the susceptibility to cryptococcosis in HIV-uninfected Chinese patients, which may provide new genetic predisposing factors for early-risk prediction of disease, individualised treatment and prognosis monitoring.

Using the SNaPshot SNP typing technique, eight SNPs of PRR genes (Dectin-2, Dectin-1, PTX3, CXCL8, IL12B, IFIH1, TLR1 and CD209) were typed on 97 HIV-uninfected cryptococcosis patients and 120 healthy controls who admitted to West China Hospital, Sichuan University, China, from 1 March 2018 to 30 December 2018. The results were analysed by the SHEsis software and SPSS 20.0 software.

It was found that that PTX3 rs2305619 polymorphism was associated with cryptococcosis in HIV-uninfected patients. Compared with the GG genotype, AA genotype increased the risk of cryptococcosis in HIV-uninfected patients (p = .015, OR, 2.579; 95% CI, 1.202-5.535). In the immunocompetent patients, the AA genotype had a higher risk (p = .002, OR, 4.399; 95% CI, 1.745-11.088). Further verification found that the plasma PTX3 level of the AA genotype was significantly higher than the GA or GG genotype (60.28 ± 16.12 vs 7.32 ± 0.79, p < .001).

PTX3 rs2305619 polymorphism was associated with cryptococcosis in HIV-uninfected Chinese patients. The AA genotype increased the risk of cryptococcosis, and its plasma PTX3 level was significantly higher than that of GA or GG genotype.