Increased frequency of the tumor necrosis factor-alpha-308 A allele in adults with human immunodeficiency virus dementia

Genetic polymorphisms in the regulatory regions of various cytokine genes i nfluence the amount of cytokine produced in response to inflammatory stimul i. To determine whether such polymorphisms might play a role in human immun odeficiency virus (HIV) dementia, a disease process in which tumor necrosis factor (TNF)-alpha is believed to play a role, we analyzed HIV-infected ad ults with and without dementia and control populations for a polymorphic si te located in the promoter region of the gene coding for TNF-oz. The presen ce of the A allele at the TNF-alpha -308 site was overrepresented among adu lts with HIV dementia compared to those without dementia (0.28 vs 0.07; OR 5.5; 95% CI 1.8-17-0) and a healthy control population (0.28 vs 0.11). The increased frequency of the A allele in HIV-infected adults with dementia su ggests that this locus may play a role in the pathophysiology of dementia a nd suggests a genetic predisposition for the development of HIV dementia.