Association between NF-kB polymorphism and age-related macular degeneration in a high-altitude population

To investigate the association between the nuclear factor kappa B (NF-kB) gene polymorphism and age-related macular degeneration (AMD) in a high-altitude population.

Fifty-five patients with AMD and 57 control subjects were recruited from the Qinghai Provincial People's Hospital, China. Genomic DNA was extracted from the blood sample of each participant. Four NF-kB polymorphisms (rs3774959, rs3774932, rs3774937, and rs230526) were genotyped using a MassARRAY system. The genotype and allele frequencies were compared between the case and control groups using the chi-squared test or Fisher's exact test.

There was no significant difference in sex, age, hypertension, diabetes, blood lipid level or smoking and drinking status between the AMD and control groups (P > 0.05). The genotype distributions of four NF-kB polymorphisms were in accordance with Hardy-Weinberg equilibrium in the control group (P > 0.05). The frequencies of genotype AA of rs3774932 and genotype CC of rs3774937 were nominally significantly higher in the AMD group than in the control group (P = 0.046 and 0.023, respectively), although these associations did not survive the Bonferroni correction (corrected P > 0.05). Genotype distributions of rs3774959 and rs230526 were not significantly different between the two groups (P = 0.08 and 0.16, respectively). No significant difference in the allele frequencies of the four polymorphisms was found between the AMD and control groups (P > 0.05).

Genotype AA of rs3774932 and genotype CC of rs3774937 in NF-kB might be risk factors for AMD.