Evidence map›Paper›PMID 22573456›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2012

Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.

Jessica Ezzell Hunter, Mary Leslie, Gloria Novak, Debra Hamilton, Lisa Shubeck, Krista Charen, Ann Abramowitz, Michael P Epstein, Adriana Lori, Elisabeth Binder and 2 more

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
2.9field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 37 citations in OpenAlex.

  1. FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Trial
  2. Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025
    Article
  3. Premutation Females with preFXTAS.International journal of molecular sciences · 2025
    Article
  4. Review
  5. FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.American journal on intellectual and developmental disabilities · 2023
    Article
  6. Article
  7. Article
  8. IsFrontiers in psychiatry · 2021
    Article
  9. Article
  10. Article
  11. Frontiers in pediatrics · 2020
    Article
  12. Article
  13. Reduced vagal tone in women with theJournal of neurodevelopmental disorders · 2017
    Article
  14. Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2016
    Article
  15. Article
  16. Article
  17. Article
  18. Associated features in females with an FMR1 premutation.Journal of neurodevelopmental disorders · 2014
    Review
  19. Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 1 institution in 1 country.

Jessica Ezzell HunterDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Mary Leslie
Gloria Novak
Debra Hamilton
Lisa Shubeck
Krista Charen
Ann Abramowitz
Michael P Epstein
Adriana Lori
Elisabeth Binder
Joseph F Cubells
Stephanie L Sherman
Emory University · US

Funding

UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 1988 to 2013
$29.4M
Atlanta Clinical and Translational Science Institute (ACTSI) RenewalUL1TR000454 · NCATS · EMORY UNIVERSITY · PI STEPHENS, DAVID S · 2012 to 2016
$25.8M
Genetics Epidemiology of the FMR1 GeneR01HD029909 · NICHD · EMORY UNIVERSITY · PI SHERMAN, STEPHANIE L. · 1994 to 2009
$6.1M
NCATS NIH HHS UL1 TR000454NICHD NIH HHS P30 HD024064NICHD NIH HHS P30 HD24064NICHD NIH HHS R01 HD029909NICHD NIH HHS R01 HD29909
6 · The paper itself

Abstract

The fragile X mental retardation gene, FMR1, contains a polymorphic CGG repeat in the 5'-untranslated region of exon 1. Once unstable, this repeat is capable of expansion across generations. Women who carry a premutation allele (55-199 repeats) are at risk of passing on a full mutation allele (>200 repeats) to their offspring. A full mutation leads to the most common form of inherited intellectual disability, fragile X syndrome (FXS). Mounting evidence suggests that premutation carriers may be vulnerable to symptoms of anxiety and depression. The goal of this study was to test the hypothesis that among women who carry a premutation, the stress of raising a child with FXS would be moderated by genetic factors influencing endogenous cortisol responses, which could in turn modulate anxiety and depression symptoms. To this end, we genotyped single nucleotide polymorphisms (SNPs) at the corticotrophin releasing hormone receptor 1 locus (CRHR1) in 460 women. Participants completed self-report questionnaires assessing symptoms of depression [Centers for Epidemiological Studies Depression Scale (CESD)], anxiety [State-Trait Anxiety Inventory (STAI) and Social Phobia and Anxiety Inventory (SPAI)], and mood [Positive and Negative Affect Schedule (PANAS)]. Results indicate a statistically significant interaction between CRHR1 genotype and the status of raising a child with FXS to predict social anxiety symptoms reported on the SPAI (rs7209436, P = 0.0001). Our data suggest that genetic variants in CRHR1 that associate with differential cortisol activation may also modulate levels of anxiety related to the stress of raising a child with FXS among women who carry an FMR1 premutation.

Indexed as

AdolescentAdultAnxietyChildChild RearingCRF Receptor, Type 1DemographyDepressionFemaleFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGene FrequencyHumansLinear ModelsLogistic ModelsMiddle AgedCRF Receptor, Type 1FMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Receptors, Corticotropin-Releasing Hormone

Identifiers

PMID22573456
PMCPMC3696495
OpenAlexW2023191540

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.