Journal of Assisted Reproduction and Genetics

, Volume 27, Issue 12, pp 701–710 | Cite as

The role of the Hoxa10/HOXA10 gene in the etiology of endometriosis and its related infertility: a review

  • Alysson ZanattaEmail author
  • André M. Rocha
  • Filomena M. Carvalho
  • Ricardo M. A. Pereira
  • Hugh S. Taylor
  • Eduardo L. A. Motta
  • Edmund C. Baracat
  • Paulo C. Serafini
Assisted Reproduction Technologies



Endometriosis and its associated infertility have been the object of continuous research for over a century. To understand the molecular mechanisms underlying the disease, it has become necessary to determine the aspects of its etiology that are not explained by the retrograde menstruation theory. This could in turn elucidate how various clinical and surgical treatments might affect the evolution and remission of the disease.


This review is focused on the most recent clinical and laboratory findings regarding the association of HOXA10 with endometriosis and infertility.


The homebox (Hox/HOX) proteins are highly conserved transcription factors that determine segmental body identities in multiple species, including humans. Hoxa10/HOXA10 is directly involved in the embryogenesis of the uterus and embryo implantation via regulation of downstream genes. Cyclical endometrial expression of Hoxa10/HOXA10, with a peak of expression occurring during the window of implantation, is observed in the adult in response to estrogen and progesterone. Women with endometriosis do not demonstrate the expected mid-luteal rise of HOXA10 expression, which might partially explain the infertility observed in many of these patients. Recent studies also demonstrated HOXA10 expression in endometriotic foci outside the Müllerian tract.


Multiple lines of evidence suggest that the actions of the homeobox A10 (Hoxa10/HOXA10) gene could account for some aspects of endometriosis.


Homeobox genes Hoxa10 Endometriosis Etiology Infertility Surgery 



We would like to acknowledge Miss Claudia Ricci for providing the illustrations of this article.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Alysson Zanatta
    • 1
    • 3
    Email author
  • André M. Rocha
    • 1
  • Filomena M. Carvalho
    • 2
  • Ricardo M. A. Pereira
    • 1
  • Hugh S. Taylor
    • 4
  • Eduardo L. A. Motta
    • 1
    • 5
  • Edmund C. Baracat
    • 3
  • Paulo C. Serafini
    • 1
    • 3
  1. 1.Huntington Medicina ReprodutivaSão PauloBrazil
  2. 2.Departamento de PatologiaFaculdade de Medicina de São PauloSão PauloBrazil
  3. 3.Departamento de Ginecologia, Hospital das ClínicasFaculdade de Medicina de São PauloSão PauloBrasil
  4. 4.Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and GynecologyYale University School of MedicineNew HavenUSA
  5. 5.Departamento de GinecologiaUniversidade Federal de São PauloSão PauloBrasil

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