Interaction between HCMV infection and PAX9 gene polymorphisms in low birth weight infants

Objective: To investigate the interaction between human cytomegalovirus infection and PAX9 gene polymorphisms in low birth weight (LBW) infants.

Methods: Nested-PCR was used to detect human cytomegalovirus (HCMV) infection and restriction fragment length polymorphism PCR (RFLP-PCR) was then used to detect polymorphisms at rs2073244 and rs4904210 on the PAX9 gene in 65 HCMV-positive infant cases and 65 HCMV-negative infant controls. Cases and controls were compared for differences in the rates of LBW using the χ(2) test. Genetic and environmental interactions were assessed by comparing rates of LBW between the cases and controls in stratified analyses and logistic regressions.

Results: The study confirmed that HCMV infection is significantly associated with LBW (OR = 5.519, χ(2) = 20.924, p < 0.05) and suggested that some PAX9 polymorphisms may promote the induction of LBW by HCMV infection. The AG and GG genotypes at rs2073244 and the CC genotype at rs4904210, with interaction coefficients greater than unity suggest that they may strengthen the association between HCMV infection and LBW.

Conclusions: Congenital HCMV infection can cause LBW and some PAX9 polymorphisms can increase the risk of LBW in HCMV-infected infants. The results may provide new clues into the relationship among HCMV infection, PAX9 polymorphisms and LBW as well as a foundation for additional molecular epidemiological and biochemical research in the future.