FMR1 Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives

We investigated whether <i>FMR1</i> allelic complexity-integrating CGG repeat length with the number and pattern of AGG interspersions-can be used as a predictor of ovarian reserve and in vitro fertilization (IVF) success. This cohort study included 124 females with infertility attributed to female factors undergoing intracytoplasmic sperm injection (ICSI). The total CGG repeat lengths and AGG interspersion patterns of the <i>FMR1</i> gene were determined by conventional polymerase chain reaction (PCR) and triplet-primed PCR. The allelic complexity (<i>allelic score</i>) was calculated using a previously described formula by combining the <i>allelic scores</i>, allowing for the stratification of samples into <i>equivalent</i> and <i>dissimilar</i> groups. No statistically significant differences were observed in ovarian reserve markers or overall IVF outcomes between the two groups. However, within the <i>dissimilar</i> group, the <i>allelic score</i> of allele 1 was significantly correlated with the number of both injected metaphase II and two-pronuclei oocytes. These findings suggest that <i>FMR1</i> allelic complexity may contribute to predicting IVF success, particularly in females classified in the <i>dissimilar</i> group, who appear more susceptible to IVF failure than those in the <i>equivalent</i> group. Further research into the predictive utility of <i>FMR1</i> could provide valuable insights for fertility assessment and enhance assisted reproductive technologies.

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Publication Details

Journal
International Journal of Molecular Sciences
Published
2025-06-16
DOI
https://doi.org/10.3390/ijms26125752
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

FMR1 Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives

Vanessa Sousa, Rosário Santos, Paula Jorge, Emídio Vale-Fernandes et al.
International Journal of Molecular Sciences
Genetics and Neurodevelopmental Disorders
article

FMR1 Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives

Vanessa Sousa, Rosário Santos, Paula Jorge, Emídio Vale-Fernandes, Bárbara Rodrigues, António J.A. Nogueira, Isabel Marques
article en

Abstract

We investigated whether <i>FMR1</i> allelic complexity-integrating CGG repeat length with the number and pattern of AGG interspersions-can be used as a predictor of ovarian reserve and in vitro fertilization (IVF) success. This cohort study included 124 females with infertility attributed to female factors undergoing intracytoplasmic sperm injection (ICSI). The total CGG repeat lengths and AGG interspersion patterns of the <i>FMR1</i> gene were determined by conventional polymerase chain reaction (PCR) and triplet-primed PCR. The allelic complexity (<i>allelic score</i>) was calculated using a previously described formula by combining the <i>allelic scores</i>, allowing for the stratification of samples into <i>equivalent</i> and <i>dissimilar</i> groups. No statistically significant differences were observed in ovarian reserve markers or overall IVF outcomes between the two groups. However, within the <i>dissimilar</i> group, the <i>allelic score</i> of allele 1 was significantly correlated with the number of both injected metaphase II and two-pronuclei oocytes. These findings suggest that <i>FMR1</i> allelic complexity may contribute to predicting IVF success, particularly in females classified in the <i>dissimilar</i> group, who appear more susceptible to IVF failure than those in the <i>equivalent</i> group. Further research into the predictive utility of <i>FMR1</i> could provide valuable insights for fertility assessment and enhance assisted reproductive technologies.

International Journal of Molecular SciencesVol. 26(12)
Universidade do Porto (PT), University of Aveiro (PT)
Centro de Estudos Ambientais e Marinhos, Universidade de Aveiro, Fundação para a Ciência e a Tecnologia
Openalex Percentile: Top 84%
Genetics and Neurodevelopmental Disorders
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