title: Association between primary vulvar vestibulitis syndrome, defective induction of tumor necrosis factor-alpha, and carriage of the mannose-binding lectin codon 54 gene polymorphism.
abstract: 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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Immunology and Infectious Diseases, Department of Obstetrics and Gynecology, Weill Medical College of Cornell University, New York, NY 10021, USA.
authors.forename: Oksana
authors.initials: O
authors.lastname: Babula
authors.forename: Iara M
authors.initials: IM
authors.lastname: Linhares
authors.forename: Ann Marie
authors.initials: AM
authors.lastname: Bongiovanni
authors.forename: William J
authors.initials: WJ
authors.lastname: Ledger
authors.forename: Steven S
authors.initials: SS
authors.lastname: Witkin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003062:Codon; D015331:Cohort Studies; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011336:Probability; D012016:Reference Values; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D054515:Vulvar Vestibulitis / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin; D014409:Tumor Necrosis Factor-alpha