{"paper_id":"ef894083-a52f-45f3-b5b4-6a31dbcf7823","body_text":"Abstract\nPurpose\nAssociation 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.\nMethods\n130 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.\nResults\nThere 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.\nConclusion\nADA6, 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.\nSimilar content being viewed by others\nReferences\nSong GG, Lee YH (2014) A meta-analysis of the association between p53 codon 72 polymorphism and susceptibility to endometriosis. Immunol Invest 43:595–605\nAmmendola M, Pietropolli A, Saccucci P, Piccione E, Bottini E, Gloria-Bottini F (2008) Acid phosphatase locus 1 genetic polymorphism, endometriosis, and allergy. Fertil Steril 90:1203–1205\nGloria-Bottini F, Ammendola M, Saccucci P, Pietropolli A, Magrini A, Bottini E (2013) The association of PTPN22 polymorphism with endometriosis: effect of genetic and clinical factors. Eur J Obstet Gynecol Reprod Biol 169:60–63\nHopkinson DA, Spencer N, Harris H (1963) Red cell acid phosphatase variants: a new human polymorphism. 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Fertil Steril 76:223–231\nMatarese G, De Placido G, Nikas Y, Alviggi C (2003) Pathogenesis of endometriosis: natural immunity dysfunction or autoimmune disease? Trends Mol Med 9:223–228\nAuthor information\nAuthors and Affiliations\nCorresponding author\nEthics declarations\nConflict of interest\nThe authors declare that they have no conflict of interest. They also state to have full control of all primary data and to agree to allow the journal to review their data if requested.\nEthical standards\nAll human studies were approved by I. R. B. and, therefore, were performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. All patients gave informed written consent to participate in this study.\nRights and permissions\nAbout this article\nCite this article\nGloria-Bottini, F., Ammendola, M., Saccucci, P. et al. The effect of ACP1, ADA6 and PTPN22 genetic polymorphisms on the association between p53 codon 72 polymorphism and endometriosis. Arch Gynecol Obstet 293, 399–402 (2016). https://doi.org/10.1007/s00404-015-3827-6\nReceived:\nAccepted:\nPublished:\nIssue date:\nDOI: https://doi.org/10.1007/s00404-015-3827-6","source_license":"CC0","license_restricted":false}