Polymorphisms in TLR-2 are associated with congenital cytomegalovirus (CMV) infection but not with congenital CMV disease

Background: Cytomegalovirus (CMV) is the most common cause of congenital virus infection. However, the risk factors for infection in utero and for progression to a severe clinical outcome remain uncertain. Recent studies have identified associations of specific single nucleotide polymorphisms (SNPs) in Toll-like receptor (TLR) genes with susceptibility to infections of some viruses and with their clinical outcome. Methods: Genetic polymorphisms in the TLR-2, TLR-4, and TLR-9 genes were analyzed in 87 children with congenital CMV infections by the TaqMan allelic discrimination assay. The frequencies of genotypes in the general Japanese population were obtained from the National Center for Biotechnology Information (NCBI) databases. Associations between the analyzed SNPs and congenital CMV infection or disease were evaluated. Results: The CC genotype at SNP rs3804100 in the TLR-2 gene was significantly associated with congenital CMV infection but not with congenital CMV disease. Furthermore, the AG genotype at SNP rs1898830 in the TLR-2 gene tended to be identified less frequently in children with congenital CMV infection. There were no statistically significant associations between SNPs in the TLR-4 and TLR-9 genes and congenital CMV infection or disease. Conclusion: TLR-2 polymorphisms may have some association with congenital CMV infection, although the mechanism underlying this effect remains to be clarified. (C) 2013 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.