Investigating the association of IL12B and INFG Polymorphisms with the risk of pseudoexfoliation syndrome and glaucoma

Background: Immune responses may be involved in the development of pseudoexfoliation (PEX), pseudoexfoliation glaucoma (PEXG), and primary open-angle glaucoma (POAG) pathogenesis. The aim of the present study was to evaluate the association of IL12B rs3212227 A/C and INFG rs1861494 T/C polymorphisms with the risk of PEX, PEXG, and POAG in an Iranian population. Methods: Totally, 55 POAG, 57 PEX, and 78 PEXG patient cases as well as 79 healthy controls were included in this study. Genotyping of the IL12B and INFG polymorphisms was performed by polymerase chain reaction and restriction fragment length polymorphism methods using TaqI and FauI restriction enzyme, respectively. Results: Results indicated that IL12B AC genotype was significantly higher in POAG (36.4%; P < 0.001; odds ratio [OR] = 4.0, 95% confidence interval [CI]: 1.7–10.0) and PEX patients (36.4%; P = 0.023; OR = 2.7, 95% CI: 1.1–6.9) compared to the control group (12.6%). The C allele could be considered a risk factor for POAG (P = 0.002; OR = 3.1, 95% CI: 3.1–6.8) and PEX (P < 0.001; OR = 3.4, 95% CI: 3.4–7.3). INFG TC genotype was significantly higher in PEX (38.6%; P = 0.007; OR = 2.8, 95% CI: 1.3–6.3) and PEXG patients (37.2%; P = 0.009; OR = 2.7, 95% CI: 1.1–6.9) compared to the control group (19.0%). The C allele seemed to be a risk factor for PEX (P = 0.002; OR = 2.8, 95% CI: 1.4–5.7) and PEXG (P = 0.009; OR = 2.4, 95% CI: 1.2–4.7). Conclusion: Overall, IL12B was associated with susceptibility to POAG and PEX, and IL12B C allele increased the risk of POAG and PEX. In addition, INFG was associated with susceptibility to PEX and PEXG, and the INFG C allele seemed to be a risk factor for PEX and PEXG.