The involvement of cytokine gene polymorphism in determining the vulnerability to Blastocystis and Helicobacter pylori co-infection in the Egyptian population.

AIMS: The present study aimed to identify any potential association between IL-1β and TNF-α gene polymorphism and the risk of Blastocystis infection as well as co-infection of Blastocystis with Helicobacter pylori (H.pylori).

METHODOLOGY: A total of 314 stool samples were collected and examined microscopically for the detection of parasitic infection. DNA was extracted from all samples and utilized to identify Blastocystis molecularly. Positive samples were used for H. pylori detection by rapid tests and PCR. Moreover, we investigate polymorphism in the TNF-α gene at position -1031T/C, -308G/A, and IL-1β at position +3954C/T using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.

RESULTS: Out of the 314 stool samples, Blastocystis was detected in 93 (29.6%); among them, 54 (58.1%) had a mixed infection of Blastocystis with H. pylori. The TT genotype of the IL-1β gene at position +3954 was significantly higher in Blasocystis-infected patients than in uninfected patients (17.2% vs. 6.3%, P= 0.02), which might be considered a risk factor (OR = 3.2; CI =1.21-8.52). The TNF-α at position -1031 TT genotype was significantly higher in Blastocystis-infected patients than uninfected patients (44.1% vs. 10.8%, P< 0.0001). The T allele (OR= 2.67; CI=1.51-4.72, P= 0.0008) might be considered a risk factor. The TNF- α at position -308 AA genotype is higher in Blasocystis infected than uninfected (17.2% vs 7.2%, P = 0.03). TNF-α -308 AA (OR = 2.72; CI = 1.08-6.89) and A allele (OR= 1.46; CI= 0.797-2.66) might be considered risk factors. The TNF- α at position -308G/A showed that the GG is the most frequent genotype in Blastocystis with H. pylori-positive patients with a significant association (P= 0.004), as well as the G allele (P=0.02). The G allele (OR=1.924; CI= 1.071-3.454) might be considered a risk factor for co-infection of Blastocystis and H. pylori.

CONCLUSION: SNPs (-1031 T/C and -308 G/A) of the TNF-α and (+3954 C/T) of the IL-1β may be a useful marker in the assessment of the risk of Blastocystis infection, and TNF-α at position -308 G/A) may be a predictor for co-infection of Blastocystis with H. pylori.