title: The effect of ACP1, ADA6 and PTPN22 genetic polymorphisms on the association between p53 codon 72 polymorphism and endometriosis.
abstract: OBJECTIVE
  Association between p53 codon 72 and endometriosis has been observed in populations of East Asia but not in those of European descent. Genetic polymorphisms could interact with p53 codon 72 influencing its association with endometriosis, thus explaining these differences among populations.
  
  
  METHODS
  130 women hospitalized for endometriosis and a sample of 250 women without endometriosis have been studied. All women were from the White population of Rome. ACP1, PTPN22, ADA6 and p53 codon 72 genotypes were determined by DNA analysis. Statistical analysis was performed by SPSS package. Three-way contingency table analyses were performed by a log linear model according to Sokal and Rohlf.
  
  
  RESULTS
  There is an epistatic interaction among ADA6, p53 codon 72 and endometriosis resulting in a positive association between carriers of *Pro allele of p53 codon 72 and endometriosis in women carrying the ADA6 *1 allele. PTPN22 and ACP1 show an additive effect with p53 codon 72 concerning their effect on endometriosis. The strength of association between p53 codon 72 and endometriosis is positively correlated with the number of the three factors considered.
  
  
  CONCLUSIONS
  ADA6, PTPN22 and ACP1 are involved in immune reactions: since endometriosis has an autoimmune component, a cooperative interaction among these genetic systems appears biological plausible. The present result could contribute to explain the differences observed among populations concerning the association between p53 codon 72 and endometriosis.
authors.affiliation: Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier, 1, 00133, Rome, Italy. gloria@med.uniroma2.it.
authors.forename: Fulvia
authors.initials: F
authors.lastname: Gloria-Bottini
authors.affiliation: Department of Obstetrics and Gynecology, P. Colombo Hospital, Velletri, 00049, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Ammendola
authors.affiliation: Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier, 1, 00133, Rome, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Saccucci
authors.affiliation: Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier, 1, 00133, Rome, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Neri
authors.affiliation: Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier, 1, 00133, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Magrini
authors.affiliation: Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier, 1, 00133, Rome, Italy.
authors.forename: Egidio
authors.initials: E
authors.lastname: Bottini
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D003062:Codon / Q000235:genetics*; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012384:Rome; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D003062:Codon; D011518:Proto-Oncogene Proteins; D016159:Tumor Suppressor Protein p53; C490429:ACP1 protein, human; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases; C548482:ADA protein, human; D000243:Adenosine Deaminase
keywords: ACP1; ADA6; Endometriosis; PTPN22; p53 codon 72