Evidence map›Paper›PMID 22493044›Full record

ArticleHuman reproduction (Oxford, England)2012

Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus.

J Kline, A Kinney, S Brown, B Levin, K Oppenheimer, D Warburton

Open access · bronzeAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Human reproduction (Oxford, England), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 30% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion.Journal of assisted reproduction and genetics · 2019
    Article
  2. Article
  3. Article
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

6 authors at 3 institutions in 1 country.

J KlineImprints Center, New York State Psychiatric Institute, New York, NY 10032, USA. jkk3@columbia.edu
A Kinney
S Brown
B Levin
K Oppenheimer
D Warburton
Columbia University · USUniversity of Vermont · USNew York State Psychiatric Institute

Funding

Skewed X Inactivation and Reproductive LossR01HD042745 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WARBURTON, DOROTHY P. · 2002 to 2006
$2.3M
EPIDEMIOLOGY OF TRISOMY AND OVARIAN AGER01AG015386 · NIA · NEW YORK STATE PSYCHIATRIC INSTITUTE · PI KLINE, JENNIE KATHERINE · 1998 to 2003
$1.2M
Trisomy and ovarian age: An epidemiologic studyR01HD053814 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI KLINE, JENNIE KATHERINE · 2008 to 2010
$1.0M
Amplification Strategies for Detection of Fragile X Trinucleotide RepeatsR43HD060450 · NICHD · AMBION DIAGNOSTICS, INC. · PI HADD, ANDREW G · 2009 to 2009
$414k
NIA NIH HHS R01 AG 15386NICHD NIH HHS R01 HD042745NICHD NIH HHS R01 HD053814NICHD NIH HHS R01 HD 053814-01A2NICHD NIH HHS R01 HD 42725NICHD NIH HHS R43 HD 060450
6 · The paper itself

Abstract

backgroundWe hypothesized that trisomy arises as a function of the size of the oocyte pool, with risk increased among women with diminished pools. Diminished pools may cause primary ovarian failure, which has been associated with premutation and intermediate CGG repeat length at the Fragile X mental retardation (FMR1) locus. Thus, we hypothesized that the risk of trisomic pregnancy is increased among women with intermediate CGG repeat length on the FMR1 gene.

methodsThe analysis drew on data from two hospital-based case-control studies. We compared 207 women with trisomic spontaneous abortions (SAs) to three comparison groups: 82 women with other chromosomally abnormal SAs, 99 women with chromosomally normal SAs and 537 women with live births (LBs), age matched to women with SAs. We defined the length of the CGG repeat in four ways: the biallelic mean, the genotypic mean, the length on allele 2 and the length on allele 1. We analyzed CGG repeat length as a categorical variable. All analyses were adjusted for site, age and ethnicity.

resultsCGG repeat length did not differ significantly between women with trisomic SAs and any of the three comparison groups. For the biallelic mean, the adjusted odds ratio relating trisomy (versus LB controls) to the highest category (35.5-59.5 repeats) versus the modal category (26.5-30.0 repeats) was 1.5 (95% confidence interval (CI): 0.7, 3.1). Comparisons with the two SA control groups also showed increased odds of more repeats among trisomy cases. Results were similar when repeat length was defined by the genotypic mean or by the repeat length on allele 2. For allele 1, the odds of short (9-19) repeat length were lower, but not significantly so, for trisomy cases compared with LB controls. Excluding women with premutations (n= 2) from the analysis yielded an adjusted odds ratio of 1.4 (95% CI: 0.7, 2.9) for the biallelic mean.

conclusionsOur data are equivocal. The direction of associations is consistent with the hypothesis that repeat length in the intermediate range is associated with trisomy. However, differences between the trisomy cases and the comparison groups are neither large nor statistically significant. Our data rule out odds ratios larger than about 3.

Indexed as

Abortion, SpontaneousAllelesAneuploidyCase-Control StudiesChromosome MappingFemaleFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGenotypeHumansMutationOdds RatioOocytesPregnancyRiskTrinucleotide Repeat ExpansionFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1

Identifiers

PMID22493044
PMCPMC3619969
OpenAlexW2101567129

What OpenQuestion holds

Textmetadata
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.