Behavior Genetics

, Volume 48, Issue 2, pp 95–108 | Cite as

The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table

  • Tinca J. C. Polderman
  • Baudewijntje P. C. Kreukels
  • Michael S. Irwig
  • Lauren Beach
  • Yee-Ming Chan
  • Eske M. Derks
  • Isabel Esteva
  • Jesse Ehrenfeld
  • Martin Den Heijer
  • Danielle Posthuma
  • Lewis Raynor
  • Amy Tishelman
  • Lea K. Davis
  • on behalf of the International Gender Diversity Genomics Consortium


The American Psychological Association defines gender identity as, “A person’s deeply-felt, inherent sense of being a boy, a man, or a male; a girl, a woman, or a female; or an alternative gender (e.g., genderqueer, gender nonconforming, gender neutral) that may or may not correspond to a person’s sex assigned at birth or to a person’s primary or secondary sex characteristics” (American Psychological Association, Am Psychol 70(9):832–864, 2015). Here we review the evidence that gender identity and related socially defined gender constructs are influenced in part by innate factors including genes. Based on the data reviewed, we hypothesize that gender identity is a multifactorial complex trait with a heritable polygenic component. We argue that increasing the awareness of the biological diversity underlying gender identity development is relevant to all domains of social, medical, and neuroscience research and foundational for reducing health disparities and promoting human-rights protections for gender minorities.


Gender identity Transgender Gender dysphoria Heritability Genetics Twin studies 



We acknowledge the many transgender and gender non-conforming children and adults who have participated in the research cited in this paper. We express great gratitude to the youth and adults who participated in our Community Engagement Studios and who shared their thoughts on the importance and value of genomics research on gender identity and voiced their concerns about potential misuse of the results.

Compliance with ethical standards

Conflict of interest

All authors declare that they have no conflicts of interest.

Human and Animal Rights

This article does not contain any studies with human participants or animals performed by any of the authors.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Tinca J. C. Polderman
    • 1
    • 2
  • Baudewijntje P. C. Kreukels
    • 3
    • 4
  • Michael S. Irwig
    • 5
  • Lauren Beach
    • 6
    • 7
  • Yee-Ming Chan
    • 8
    • 9
  • Eske M. Derks
    • 10
  • Isabel Esteva
    • 11
    • 12
  • Jesse Ehrenfeld
    • 6
    • 13
    • 14
    • 15
    • 16
  • Martin Den Heijer
    • 4
    • 17
  • Danielle Posthuma
    • 1
    • 2
  • Lewis Raynor
    • 18
  • Amy Tishelman
    • 8
    • 19
  • Lea K. Davis
    • 6
    • 20
    • 21
    • 22
    • 23
  • on behalf of the International Gender Diversity Genomics Consortium
  1. 1.Department of Complex Trait GeneticsVrije UniversiteitAmsterdamThe Netherlands
  2. 2.Center for Neurogenomics and Cognitive ResearchVrije UniversiteitAmsterdamThe Netherlands
  3. 3.Department of Medical PsychologyVU University Medical CenterAmsterdamThe Netherlands
  4. 4.Center of Expertise on Gender DysphoriaVU University Medical CenterAmsterdamThe Netherlands
  5. 5.Division of Endocrinology, Center for AndrologyGeorge Washington UniversityWashingtonUSA
  6. 6.Program for LGBTI HealthVanderbilt University Medical CenterNashvilleUSA
  7. 7.Division of Nephrology & HypertensionVanderbilt University Medical CenterNashvilleUSA
  8. 8.Division of Endocrinology, Department of MedicineBoston Children’s HospitalBostonUSA
  9. 9.Department of PediatricsHarvard Medical SchoolBostonUSA
  10. 10.Translational Neurogenomics GroupQIMR BerghoferBrisbaneAustralia
  11. 11.Department of Endocrinology and Gender Identity UnitUniversity Regional Hospital of MalagaMalagaSpain
  12. 12.Foundation Institute of Biomedical Research in Malaga (FIMABIS-IBIMA)MalagaSpain
  13. 13.Department of AnesthesiologyVanderbilt University Medical CenterNashvilleUSA
  14. 14.Department of SurgeryVanderbilt University Medical CenterNashvilleUSA
  15. 15.Department of Biomedical InformaticsVanderbilt University Medical CenterNashvilleUSA
  16. 16.Department of Health PolicyVanderbilt University Medical CenterNashvilleUSA
  17. 17.Department of Internal MedicineVU University Medical CenterAmsterdamThe Netherlands
  18. 18.Department of ResearchOCHIN, Inc.PortlandUSA
  19. 19.Divisions of Endocrinology and PsychiatryBoston Children’s HospitalBostonUSA
  20. 20.Division of Genetic Medicine, Department of MedicineVanderbilt University Medical CenterNashvilleUSA
  21. 21.Department of Psychiatry and Behavioral SciencesVanderbilt University Medical CenterNashvilleUSA
  22. 22.Vanderbilt Genetics InstituteVanderbilt University Medical CenterNashvilleUSA
  23. 23.23Vanderbilt UniversityNashvilleUSA

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