Shin et al. (2000) reported an increased susceptibility to HIV-1 infection (609423) and more rapid progression to AIDS in patients with a C-to-A polymorphism at position -592 of the IL10 promoter. The -592A allele reduces IL10 transcription by a factor of 2 to 4. The authors found that -592A allele-specific synthetic oligonucleotides did not bind certain ETS family transcription factors, which recognize the wildtype IL10 allele sequence. Heterozygosity and homozygosity with respect to the -592A allele was associated with accelerated AIDS progression, probably owing to downregulation of the inhibitory IL10 cytokine.
In 993 transplant recipients, Lin et al. (2003) found that the IL10 -592A/A genotype, as compared with the C/C genotype, was associated with a decreased risk of acute graft-versus-host disease (GVHD; 614395) and death in remission. A haplotype analysis showed that the -592A allele was a specific marker for a promoter haplotype, T-C-A-T-A, defined by 5 polymorphisms at positions -3575, -2763, -1082, -819, and -592, respectively. Among recipients of hematopoietic cells from an HLA-identical sib, the -592A allele was shown to be a marker of a favorable outcome after transplantation. Cooke and Ferrara (2003) commented on the usefulness of information on IL10 genotype in clinical practice.
