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

Ning Cheng1, Dennis Wang2,3, Zhihui Zhou1

  • 1a Center for Reproductive Health and Birth Defects, College of Basic Medicine, Lanzhou University , Lanzhou , Gansu , PR China .

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|September 4, 2015
PubMed

Insights

Human cytomegalovirus (HCMV) infection significantly increases the risk of low birth weight (LBW) in infants. Certain PAX9 gene variations may further elevate this risk in HCMV-infected newborns.

Area of Science:

  • Medical Genetics
  • Infectious Diseases
  • Neonatology

Background:

  • Human cytomegalovirus (HCMV) is a common congenital infection.
  • Low birth weight (LBW) is a significant global health concern.
  • The role of specific gene polymorphisms in HCMV-related LBW is not fully understood.

Purpose of the Study:

  • To investigate the association between HCMV infection and PAX9 gene polymorphisms in infants with LBW.
  • To determine if PAX9 gene variations modify the risk of LBW in HCMV-infected infants.

Main Methods:

  • Nested-PCR was used to detect HCMV infection in infants.
  • Restriction fragment length polymorphism PCR (RFLP-PCR) identified PAX9 gene polymorphisms (rs2073244 and rs4904210).
  • Statistical analyses, including χ(2) tests and logistic regressions, compared LBW rates between HCMV-positive and negative groups, and assessed gene-environment interactions.

Main Results:

  • HCMV infection was significantly associated with LBW (OR = 5.519, p < 0.05).
  • Specific PAX9 genotypes (AG/GG at rs2073244, CC at rs4904210) showed interaction coefficients suggesting they may enhance the LBW risk in HCMV-infected infants.
  • These findings indicate a potential interplay between HCMV and PAX9 in the etiology of LBW.

Conclusions:

  • Congenital HCMV infection is a confirmed cause of LBW.
  • Certain PAX9 polymorphisms can increase the susceptibility to LBW in infants with HCMV infection.
  • This research provides a basis for further molecular epidemiological and biochemical studies on HCMV, PAX9, and LBW.
Abstract

Keywords:
HCMVPAX9PCR-RFLPinteractionlow birth weightmolecular epidemiologynested-PCR

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