Association of ESR2, AR and CYP19A1 genes in a sample of male Russian patients with congenital irreversible disorders of gender identity

Shibalev D.V.; Vasileva A.A.; Korchagin V.I.; Kremenitskaya S.A.; Solovieva N.V.; Ryskov A.P.; Vasilyev V.A.

doi:https://doi.org/10.17116/molgen20254303155

Shibalev D.V.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0002-9427-0305

Vasileva A.A.

Institute of Gene Biology Russian Academy of Sciences;
Lomonosov Moscow State University — Anuchin Research Institute and Museum of Anthropology

ORCID: 0000-0002-8025-8444

Korchagin V.I.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0003-2264-6294

Kremenitskaya S.A.

Scientific center of personalized medicine

ORCID: 0000-0003-0047-0291

Solovieva N.V.

Scientific Centre of Personalized Psychiatry

ORCID: 0000-0003-2965-9127

Ryskov A.P.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0002-4159-0671

Vasilyev V.A.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0003-2786-3327

Association of ESR2, AR and CYP19A1 genes in a sample of male Russian patients with congenital irreversible disorders of gender identity

Authors:

Shibalev D.V., Vasileva A.A., Korchagin V.I., Kremenitskaya S.A., Solovieva N.V., Ryskov A.P., Vasilyev V.A.

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Journal: Molecular Genetics, Microbiology and Virology. 2025;43(3): 55‑62

DOI: 10.17116/molgen20254303155

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To cite this article:

Shibalev DV, Vasileva AA, Korchagin VI, Kremenitskaya SA, Solovieva NV, Ryskov AP, Vasilyev VA. Association of ESR2, AR and CYP19A1 genes in a sample of male Russian patients with congenital irreversible disorders of gender identity. Molecular Genetics, Microbiology and Virology. 2025;43(3):55‑62. (In Russ.)
https://doi.org/10.17116/molgen20254303155

Подписка 2026 Молекулярная генетика, микробиология и вирусология (Molecular Genetics, Microbiology and Virology)

Использование инфографики авторами научных работ

Abstract:

INTRODUCTION

The etiology of transsexualism remains unknown to date, since this phenomenon is caused by a complex of reasons. Family studies have confirmed the role of genetic factors in the violation of sexual self-identification. Data on the association between the polymorphism of genes involved in the hormonal regulation system: androgen (AR) and estrogen (ESR2) receptors, as well as aromatase (CYP19A1), and transsexualism in different samples were obtained. In Russia, such studies have not been conducted to date. The purpose of this study is to study the genetic association of the AR, ESR2 and CYP19A1 genes with the diagnosis of transsexualism in a sample of Russian patients.

MATERIAL AND METHODS

The study was conducted on a sample of male patients with congenital irreversible disorders of gender identity (n=191) with varying degrees of severity of the clinical picture (“core” form, “transitional” and “marginal”) and a control group of men without gender dysphoria (n=129).

RESULTS

No statistically significant association was found between transsexualism and polymorphic variants of the three genes, which is consistent with previously published studies. In the group of patients, the frequency of the SS genotypes (containing only alleles with a length shorter than the median value) of the ESR2 gene (57.07%) and the L genotype (with a length longer than the median value) of the AR gene (53.93%) is higher than in the control group (48.46% and 43.41%, respectively). Also, when including only “core” and “transitional” patients in the group, a tendency to increase the observed differences with men without gender dysphoria was revealed (p=0.06).

CONCLUSION

Results of this work indirectly confirm the involvement of the androgen receptor in the development of transsexualism. In the future, it is desirable to expand the range of markers studied for the connection with it, as well as to conduct similar studies on new samples.

Keywords:

gender identity

gender identity disorder

genetic causes of gender identity disorder

transsexualism

gene of aromatase

genes of androgen and estrogen receptors

Authors:

Shibalev D.V.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0002-9427-0305

Vasileva A.A.

Institute of Gene Biology Russian Academy of Sciences;
Lomonosov Moscow State University — Anuchin Research Institute and Museum of Anthropology

ORCID: 0000-0002-8025-8444

Korchagin V.I.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0003-2264-6294

Kremenitskaya S.A.

Scientific center of personalized medicine

ORCID: 0000-0003-0047-0291

Solovieva N.V.

Scientific Centre of Personalized Psychiatry

ORCID: 0000-0003-2965-9127

Ryskov A.P.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0002-4159-0671

Vasilyev V.A.

Institute of Gene Biology Russian Academy of Sciences

ORCID: 0000-0003-2786-3327

Received:

10.12.2024

Accepted:

09.01.2025

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