The -863 TNF-α Polymorphism and Primary Open Angle Glaucoma in Egyptians

Abstract

Growing evidence indicates that TNF-alpha is involved in the pathogenesis of POAG in several ways, primarly by induction of retinal ganglion cells apoptosis and therefore optic nerve degeneration. TNF-alpha and POAG relationship has been studied at the genetic level with variable results in different populations. The transcription rate and the release of the TNF-alpha cytokine have been reported to be affected by polymorphisms in the promoter of the TNF-alpha gene. Polymorphisms at positions -238 and -308 are the most frequent studied. Another polymorphism, at the position -863 in the promoter region, has been less studied, but a homozygous AA allele appears protective in a Chinese population. Our aim was to assess the potential association of -863C/A TNF-alpha gene promoter polymorphisms with POAG in an Egyptian group of subjects. Genotyping of the TNF-alpha (-863) polymorphism was done for 228 POAG patients and 230 control subjects using the PCRbased, Restriction Fragment Length Polymorphism (RFLP) assay. TNFalpha (-863) A/A genotype was absent in both groups. There was no significant difference between both groups as regards to TNF-α (-863) A allele carriage (6.14 versus 10.43%; p = 0. 099)). Also the genotype TNF-α (-863) C/C and the frequency of the tumor necrosis factor-alpha (-863) C allele did not significantly differ between both groups (93.86 versus 89.57%; p = 0. 099) and 96.93 versus 94.78%; p = 0. 107) respectively. Our data indicated that the TNF-alpha (-863) a allele is not linked with primary open angle glaucoma protection among Egyptian patients.

Association of TNF-α gene promoter polymorphism with primary open-angle glaucoma

“…Кроме того, патогенез ПОУГ сложен и генетически неоднороден, поэтому на результаты генетических исследований, несомненно, может влиять тип открытоугольной глаукомы. Связь двух других полиморфных позиций промоторного региона гена с ПОУГ нами не выявлена, что также согласуется с большинством представленных в международной литературе данных [19].…”