Tumor necrosis factor-α gene polymorphisms in age-related macular degeneration

The purpose of this study was to investigate tumor necrosis factor-α gene polymorphisms in unrelated Taiwan Chinese patients with wet age-related macular degeneration (AMD) and controls.

In this retrospective case-control study, we enrolled 190 wet AMD patients and 180 age- and gender-matched controls. Genomic DNA was extracted from the peripheral blood obtained from wet AMD patients and control subjects. Polymerase chain reaction was performed to analyze 6 candidate single nucleotide polymorphisms in the tumor necrosis factor-α gene: -238 G/A, -308 G/A, +489 G/A, -857 C/T, -863 C/A, and -1031 T/C.

Among the 6 candidate single nucleotide polymorphisms of the tumor necrosis factor-α gene, only -1031 T/C was significantly associated with wet AMD. The distribution of the -1031 T/C genotypes was significantly different between wet AMD patients (homozygous T [TT], 64%; TC heterozygous [TC], 36%; homozygous C [CC] 0%) and controls (TT, 66%; TC, 28%; CC, 7%; P = 7 × 10⁻⁴). The genotype CC of -1031 T/C was significantly lower than that in controls (0 vs. 7%, P = 1.45 × 10⁻⁴, odds ratio = 14.70, 95% confidence interval = 1.90-33.59). No single haplotype was found to be significantly associated with either wet AMD patients or controls.

Our data indicate that the tumor necrosis factor-α -1031 T/C polymorphism may be associated with wet AMD in the Taiwan Chinese population.