TY - JOUR
T1 - Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with “normal” CGG repeat status
AU - Gustin, Stephanie L.F.
AU - Ding, Victoria Y.
AU - Desai, Manisha
AU - Leader, Benjamin
AU - Baker, Valerie L.
N1 - Publisher Copyright:
© 2015, Springer Science+Business Media New York.
PY - 2015/11/1
Y1 - 2015/11/1
N2 - 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.
AB - 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.
KW - AMH
KW - CGG repeat
KW - FMR1
KW - Ovarian reserve
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U2 - 10.1007/s10815-015-0577-0
DO - 10.1007/s10815-015-0577-0
M3 - Article
C2 - 26409477
AN - SCOPUS:84947494514
SN - 1058-0468
VL - 32
SP - 1669
EP - 1676
JO - Journal of Assisted Reproduction and Genetics
JF - Journal of Assisted Reproduction and Genetics
IS - 11
ER -