Exploring the Contribution of Interleukin-12A Genetic Polymorphisms to Pterygium Risk

Pterygium is a common ocular surface disorder with multifactorial etiology involving environmental exposure and immune dysregulation. Interleukin-12 (IL-12), a key immunomodulatory cytokine, has been implicated in inflammation and tumor-related processes, yet its genetic contribution to pterygium remains unclear. This study aimed to evaluate the association between IL-12A polymorphisms and pterygium susceptibility.

A hospital-based case-control study was conducted, including 160 pterygium patients and 320 age- and sex-matched controls. Genotyping of IL-12A rs568408 and rs2243115 was performed via restriction fragment length polymorphism methods.

Both polymorphisms were in Hardy-Weinberg equilibrium among controls (p=0.2165 and p=0.5533). No significant differences in genotype distributions were observed between cases and controls for rs568408 (p for trend=0.5727) or rs2243115 (p for trend=0.5471). The rs568408 AG and AA genotypes showed non-significant associations with pterygium risk (OR=1.14, 95%CI=0.72-1.78, p=0.6603; OR=1.63, 95% CI=0.59-4.49, p=0.4950). Similarly, allelic analyses revealed no significant associations (as for rs568408, OR=1.21, 95%CI=0.84-1.76, p=0.3527; as for rs2243115, OR=1.27, 95%CI=0.81-2.01, p=0.3581).

Despite the tumor-like and inflammatory characteristics of pterygium, IL-12A polymorphisms were not significantly associated with disease susceptibility. However, IL-12-mediated immune pathways may still contribute to disease pathogenesis through functional regulation rather than genetic variation. Further large-scale and mechanistic studies are warranted.