Descriptive overview of gene variants potentially affecting female infertility treatments: A systematic review.

Autores de IIS La Fe

• Asunta Martínez Martínez

  Autor

• Francisco José Sanz López

  Autor

• Pablo García Acero

  Autor

• Patricia Sebastián León

  Autor

• Patricia Díaz Gimeno

  Autor

Grupos

• Biomarcadores, Medicina Genómica, Estadística y Análisis masivo de datos en Reproducción humana asistida

• Medicina Fetal y Reproductiva

Abstract

Pharmacogenetics is an emerging discipline that explores how genetic variants affect drug response, potentially leading to side effects or treatment failure. Although widely applied in other medical specialties, its use in female reproductive medicine remains limited. The objective of this systematic review is to investigate and summarize the current state of knowledge in pharmacogenetics as it applies to female reproductive diseases or conditions, aiming to support clinical application. A comprehensive systematic search was conducted using PubMed up to September 2025, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Keywords related to female infertility and pharmacogenetics/pharmacogenomics were used. The search yielded 603 articles, of which 75 were ultimately included. Evaluation of the studies identified 46 genetic variants affecting drug response in the field of female infertility. Pharmacogenetic research in this field remains limited, with notable gaps for conditions such as endometriosis and uterine fibroids that influence reproductive outcomes. The variants associated with responses during infertility therapies could contribute to preventive medicine aimed at avoiding reduced drug efficacy, excessive responses, or the development of adverse effects. Additionally, greater dissemination of these findings within clinical settings is essential to improve awareness and understanding in this field and to facilitate the study of these variants and their potential translation into clinical practice. This review summarizes the current state of pharmacogenetics in the context of female infertility and aims to serve as a reference and to encourage further research in this area.

Copyright © 2025 The Authors. Published by Elsevier Masson SAS.. All rights reserved.

Keywords

• Drug response; Female infertility; Genetic variants; Personalized medicine; Pharmacogenomics; Women’s health treatments