Association between primary vulvar vestibulitis syndrome, defective induction of tumor necrosis factor-alpha, and carriage of the mannose-binding lectin codon 54 gene polymorphism

Am J Obstet Gynecol. 2008 Jan;198(1):101.e1-4. doi: 10.1016/j.ajog.2007.05.037.


Objective: We evaluated whether women with vulvar vestibulitis syndrome (VVS) could be subdivided on the basis of genotyping the polymorphic mannose-binding lectin (MBL) gene.

Study design: DNA from 123 women with VVS was tested for a single nucleotide polymorphism at codon 54 of the MBL gene. Blood samples from 86 of the women were evaluated for ex vivo tumor necrosis factor-alpha (TNF-alpha) and interleukin-1 receptor antagonist (IL-1ra) production in response to Candida albicans, gram-positive peptidoglycan, and gram-negative lipopolysaccharide. Associations between laboratory findings and clinical characteristics were analyzed.

Results: The variant MBL*B allele was identified in 33 subjects (26.8%). This polymorphism was more prevalent in women whose symptoms developed at their first act of sexual intercourse (primary VVS, 40.9%), as opposed to women with secondary VVS (16.3%; P = .01). Ex vivo TNF-alpha production, but not IL-1ra production, was reduced in MBL*B carriers as compared with MBL*A homozygotes (P < or = .03).

Conclusion: The MBL gene polymorphism is associated with the development of primary VVS and a reduced capacity for TNF-alpha production in response to microbial components.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Codon
  • Cohort Studies
  • Female
  • Gene Expression Regulation
  • Genetic Predisposition to Disease*
  • Heterozygote
  • Humans
  • Mannose-Binding Lectin / genetics*
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Genetic*
  • Probability
  • Reference Values
  • Sensitivity and Specificity
  • Severity of Illness Index
  • Statistics, Nonparametric
  • Tumor Necrosis Factor-alpha / genetics*
  • Vulvar Vestibulitis / diagnosis
  • Vulvar Vestibulitis / genetics*


  • Codon
  • MBL2 protein, human
  • Mannose-Binding Lectin
  • Tumor Necrosis Factor-alpha