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Published in: Journal of Assisted Reproduction and Genetics 11/2015

01-11-2015 | Genetics

Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with “normal” CGG repeat status

Authors: Stephanie L. F. Gustin, Victoria Y. Ding, Manisha Desai, Benjamin Leader, Valerie L. Baker

Published in: Journal of Assisted Reproduction and Genetics | Issue 11/2015

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Abstract

Purpose

The objective of this analysis is to examine the relationship between Fragile X Mental Retardation 1 gene (FMR1) cytosine-guanine-guanine (CGG) repeat number and ovarian reserve, with a particular focus exclusively on the range of CGG repeat number below the premutation (PM) range (<55 CGG repeats).

Methods

Our study included female patients who underwent assessment of FMR1 CGG repeat number and serum anti-Mullerian hormone (AMH) in 2009–2014. To examine the association between FMR1 repeat number and serum AMH, we created three summary measures of CGG repeat number for the two alleles—“Sum,” “Max,” and “Gap” (absolute difference). Using multivariable regression models, controlling for age, we then analyzed the impact of these summary measures on AMH.

Results

A total of 566 patients were included in our study. Using multivariable regression models, we found that the relationship between CGG repeat number and AMH differed depending on age. Specifically, in younger women, AMH increased by 7–8 % (Sum p < 0.01, Max p = 0.04) for every 1 unit increase in CGG repeat number. In contrast, starting at age 40, there was a 3 to 5 % decline in AMH for every 1 unit increase in CGG repeat number (Sum p < 0.01, Max p = 0.04).

Conclusions

This is the first study to report a statistically significant correlation of ovarian reserve and CGG repeat number in women with <55 CGG repeats. Although these women are generally considered to have a normal phenotype, our data suggest that increasing CGG repeat number within this normal range is associated with a more rapid decline in ovarian reserve.
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Metadata
Title
Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with “normal” CGG repeat status
Authors
Stephanie L. F. Gustin
Victoria Y. Ding
Manisha Desai
Benjamin Leader
Valerie L. Baker
Publication date
01-11-2015
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 11/2015
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-015-0577-0

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