ArticleFrontiers in endocrinology2025
The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility.
Article in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: The aim of the present study was to investigate whether the CGG repeat length and AGG interruption patterns on the FMR1 gene affect female fecundity. Methods: A total of 266 infertile patients and 276 fertile controls were included in the study. All participants received FMR1 testing using triplet repeat primed PCR and capillary electrophoresis. The allele with the smaller number of CGG repeats was defined as "allele 1", and the allele with the larger number of CGG repeats was defined as "allele 2". Results: The mean number of CGG repeat length at allele 2 in the secondary infertility group was higher than that in the control group (33.1 ± 6.7 vs 30.9 ± 3.3, Bonferroni corrected p=0.003). The proportion of 35-44 CGG repeat at both FMR1 alleles showed a higher trend in the secondary infertility group as compared to the control group after adjusting for age, education, smoking status, cohort and the CGG repeats of the other FMR1 allele (aOR=7.812, 95% CI 0.884-69.001; p=0.064 for allele 1; aOR=3.657, 95% CI 2.193-6.098; p<0.001 for allele 2, respectively). Lower AMH levels were associated with increased CGG repeat length at allele 1 in infertile patients (Adjusted R Conclusions: Overall, the high normal sized (35-44 CGG) repeat length at both FMR1 alleles may serve a promoting role in the development of secondary infertility in Asian women. In addition, the CGG repeat length at allele 1 appears to have a mild correlation with AMH levels in infertile patients.
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