Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation

Women who carry an premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20-30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6-15% carriers); however, emerging evidence indicates...

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Published inFrontiers in psychiatry Vol. 12; p. 715922
Main Authors Allen, Emily Graves, Charen, Krista, Hipp, Heather S, Shubeck, Lisa, Amin, Ashima, He, Weiya, Hunter, Jessica Ezzell, Shelly, Katharine E, Sherman, Stephanie L
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 01.10.2021
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Abstract Women who carry an premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20-30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6-15% carriers); however, emerging evidence indicates that some of these women experience complex health profiles beyond FXPOI and FXTAS. In an effort to better understand predictors for these comorbid conditions, we collected self-reported medical histories on 413 women who carry an PM. There were 22 health conditions reported by at least 9% of women. In an exploratory analysis, 12 variables were tested in logistic regression models for each comorbid condition, including demographic variables, environmental variables, PM-associated factors, and endorsement of depression and/or anxiety. More than half of the comorbid conditions studied were associated with women who self-reported having anxiety. Age, smoking, body mass index (BMI), and depression were also significant predictor variables for specific comorbid conditions. Age, smoking, and BMI were significantly associated with a subset of the comorbid conditions analyzed. Importantly, depression or anxiety were also significantly associated with many of the comorbid health conditions. This work highlights some of the modifiable factors associated with complex health profiles among women with an PM.
AbstractList Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6–15% carriers); however, emerging evidence indicates that some of these women experience complex health profiles beyond FXPOI and FXTAS.Methods: In an effort to better understand predictors for these comorbid conditions, we collected self-reported medical histories on 413 women who carry an FMR1 PM.Results: There were 22 health conditions reported by at least 9% of women. In an exploratory analysis, 12 variables were tested in logistic regression models for each comorbid condition, including demographic variables, environmental variables, PM-associated factors, and endorsement of depression and/or anxiety. More than half of the comorbid conditions studied were associated with women who self-reported having anxiety. Age, smoking, body mass index (BMI), and depression were also significant predictor variables for specific comorbid conditions.Conclusions: Age, smoking, and BMI were significantly associated with a subset of the comorbid conditions analyzed. Importantly, depression or anxiety were also significantly associated with many of the comorbid health conditions. This work highlights some of the modifiable factors associated with complex health profiles among women with an FMR1 PM.
Women who carry an premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20-30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6-15% carriers); however, emerging evidence indicates that some of these women experience complex health profiles beyond FXPOI and FXTAS. In an effort to better understand predictors for these comorbid conditions, we collected self-reported medical histories on 413 women who carry an PM. There were 22 health conditions reported by at least 9% of women. In an exploratory analysis, 12 variables were tested in logistic regression models for each comorbid condition, including demographic variables, environmental variables, PM-associated factors, and endorsement of depression and/or anxiety. More than half of the comorbid conditions studied were associated with women who self-reported having anxiety. Age, smoking, body mass index (BMI), and depression were also significant predictor variables for specific comorbid conditions. Age, smoking, and BMI were significantly associated with a subset of the comorbid conditions analyzed. Importantly, depression or anxiety were also significantly associated with many of the comorbid health conditions. This work highlights some of the modifiable factors associated with complex health profiles among women with an PM.
Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6–15% carriers); however, emerging evidence indicates that some of these women experience complex health profiles beyond FXPOI and FXTAS. Methods: In an effort to better understand predictors for these comorbid conditions, we collected self-reported medical histories on 413 women who carry an FMR1 PM. Results: There were 22 health conditions reported by at least 9% of women. In an exploratory analysis, 12 variables were tested in logistic regression models for each comorbid condition, including demographic variables, environmental variables, PM-associated factors, and endorsement of depression and/or anxiety. More than half of the comorbid conditions studied were associated with women who self-reported having anxiety. Age, smoking, body mass index (BMI), and depression were also significant predictor variables for specific comorbid conditions. Conclusions: Age, smoking, and BMI were significantly associated with a subset of the comorbid conditions analyzed. Importantly, depression or anxiety were also significantly associated with many of the comorbid health conditions. This work highlights some of the modifiable factors associated with complex health profiles among women with an FMR1 PM.
Author Hipp, Heather S
Amin, Ashima
Shelly, Katharine E
Allen, Emily Graves
Hunter, Jessica Ezzell
Sherman, Stephanie L
Charen, Krista
Shubeck, Lisa
He, Weiya
AuthorAffiliation 2 Department of Gynecology and Obstetrics, Emory University School of Medicine , Atlanta, GA , United States
3 Genomics, Ethics, and Translational Research Program, RTI International , Triangle Park, NC , United States
1 Department of Human Genetics, Emory University School of Medicine , Atlanta, GA , United States
AuthorAffiliation_xml – name: 1 Department of Human Genetics, Emory University School of Medicine , Atlanta, GA , United States
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Copyright Copyright © 2021 Allen, Charen, Hipp, Shubeck, Amin, He, Hunter, Shelly and Sherman.
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Keywords FXPOI
FMR1
premutation
FXTAS
fragile X syndrome
Language English
License Copyright © 2021 Allen, Charen, Hipp, Shubeck, Amin, He, Hunter, Shelly and Sherman.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
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Notes This article was submitted to Behavioral and Psychiatric Genetics, a section of the journal Frontiers in Psychiatry
Edited by: David Hessl, University of California, Davis, United States
Reviewed by: Susan Elizabeth Luczak, University of Southern California, United States; Laia Rodriguez-Revenga, Hospital Clínic de Barcelona, Spain; Shai E. Elizur, Sheba Medical Center, Israel
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Snippet Women who carry an premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI,...
Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian...
Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian...
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StartPage 715922
SubjectTerms FMR1
fragile X syndrome
FXPOI
FXTAS
premutation
Psychiatry
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Title Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation
URI https://www.ncbi.nlm.nih.gov/pubmed/34658954
https://pubmed.ncbi.nlm.nih.gov/PMC8517131
https://doaj.org/article/caedd0e1aae64ce4b6cc4a81ee69a52a
Volume 12
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