Evidence map›Paper›PMID 22426781›Full record

ArticleBehavior genetics2012

The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language.

Heidi Anthoni, Lara E Sucheston, Barbara A Lewis, Isabel Tapia-Páez, Xiaotang Fan, Marco Zucchelli, Mikko Taipale, Catherine M Stein, Marie-Estelle Hokkanen, Eero Castrén and 25 more

Open access · hybridAbstract read
In one paragraph

Article in Behavior genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
9.2field-weighted citation impact, top 2% 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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Animal models of developmental dyslexia.Frontiers in neuroscience · 2022
    Review
  12. Article
  13. Article
  14. Review
  15. Aromatase in the Human Brain.Androgens: clinical research and therapeutics · 2021
    Review
  16. Article
  17. The word learning profile of adults with developmental language disorder.Autism & developmental language impairments · 2020
    Article
  18. Article
  19. Review
  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

35 authors at 20 institutions in 5 countries.

Heidi AnthoniDepartment of Medical Genetics, Biomedicum, University of Helsinki, 00014, Helsinki, Finland.
Lara E Sucheston
Barbara A Lewis
Isabel Tapia-Páez
Xiaotang Fan
Marco Zucchelli
Mikko Taipale
Catherine M Stein
Marie-Estelle Hokkanen
Eero Castrén
Bruce F Pennington
Shelley D Smith
Richard K Olson
J Bruce Tomblin
Gerd Schulte-Körne
Markus Nöthen
Johannes Schumacher
Bertram Müller-Myhsok
Per Hoffmann
Jeffrey W Gilger
George W Hynd
Jaana Nopola-Hemmi
Paavo H T Leppanen
Heikki Lyytinen
Jacqueline Schoumans
Magnus Nordenskjöld
Jason Spencer
Davor Stanic
Wah Chin Boon
Evan Simpson
Sari Mäkelä
Jan-Åke Gustafsson
Myriam Peyrard-Janvid
Sudha Iyengar
Juha Kere
Karolinska Institutet · SEUniversity of Helsinki · FICase Western Reserve University · USUniversity of Bonn · DEMonash Institute of Medical Research · AUUniversity of Jyväskylä · FICollege of Charleston · USKarolinska University Hospital · SELudwig-Maximilians-Universität München · DEMax Planck Institute of Psychiatry · DEMonash University · AUNebraska Medical Center · USUniversity at Buffalo, State University of New York · USUniversity of California, Merced · USUniversity of Colorado Boulder · USUniversity of Denver · USUniversity of Houston · USUniversity of Iowa · USUniversity of Melbourne · AUUniversity of Turku · FI

Funding

VALIDITY OF SUBTYPES OF ADHDP50HD027802 · NICHD · UNIVERSITY OF COLORADO AT BOULDER · PI ERIK G WILLCUTT · 1990 to 2026
$44.9M
X-LINKED EXTENSION OF THE REVISED HASEMAN-ELSTON ALGORITHM FOR LINKAGE ANALYSISP41RR003655 · NCRR · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ELSTON, ROBERT C. · 1987 to 2011
$11.5M
MORPHOSYNTACTIC ABILITIES OF SLI PROBANDS AND FAMILIESR01DC001803 · NIDCD · UNIVERSITY OF KANSAS LAWRENCE · PI RICE, MABEL L · 1993 to 2022
$10.9M
FAMILIAL STUDY OF SEVERE PHONOLOGY DISORDERSR01DC000528 · NIDCD · CASE WESTERN RESERVE UNIVERSITY · PI LEWIS, BARBARA A · 1995 to 2018
$9.5M
Twins and Singletons with Specific Language ImpairmentR01DC005226 · NIDCD · UNIVERSITY OF KANSAS LAWRENCE · PI RICE, MABEL L · 2002 to 2016
$8.3M
BIOMETRIC-GENETIC ANALYSIS OF CARDIOVASCULAR DISEASET32HL007567 · NHLBI · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ZHU, XIAOFENG · 1985 to 2021
$6.0M
NCRR NIH HHS P41 RR003655NCRR NIH HHS RR03655NHLBI NIH HHS HL07567NHLBI NIH HHS T32 HL007567NICHD NIH HHS 5P50-HD027802NICHD NIH HHS 5P50HD027802NICHD NIH HHS P50 HD027802NIDCD NIH HHS R01 DC000528NIDCD NIH HHS R01 DC001803NIDCD NIH HHS R01 DC005226
6 · The paper itself

Abstract

Inspired by the localization, on 15q21.2 of the CYP19A1 gene in the linkage region of speech and language disorders, and a rare translocation in a dyslexic individual that was brought to our attention, we conducted a series of studies on the properties of CYP19A1 as a candidate gene for dyslexia and related conditions. The aromatase enzyme is a member of the cytochrome P450 super family, and it serves several key functions: it catalyzes the conversion of androgens into estrogens; during early mammalian development it controls the differentiation of specific brain areas (e.g. local estrogen synthesis in the hippocampus regulates synaptic plasticity and axonal growth); it is involved in sexual differentiation of the brain; and in songbirds and teleost fishes, it regulates vocalization. Our results suggest that variations in CYP19A1 are associated with dyslexia as a categorical trait and with quantitative measures of language and speech, such as reading, vocabulary, phonological processing and oral motor skills. Variations near the vicinity of its brain promoter region altered transcription factor binding, suggesting a regulatory role in CYP19A1 expression. CYP19A1 expression in human brain correlated with the expression of dyslexia susceptibility genes such as DYX1C1 and ROBO1. Aromatase-deficient mice displayed increased cortical neuronal density and occasional cortical heterotopias, also observed in Robo1-/- mice and human dyslexic brains, respectively. An aromatase inhibitor reduced dendritic growth in cultured rat neurons. From this broad set of evidence, we propose CYP19A1 as a candidate gene for human cognitive functions implicated in reading, speech and language.

Indexed as

AnimalsAromataseBrainCohort StudiesCytoskeletal ProteinsDyslexiaFemaleGene Expression RegulationGenetic Predisposition to DiseaseHumansLanguage DisordersMaleMiceMice, KnockoutNerve Tissue ProteinsNuclear ProteinsAromataseCYP19A1 protein, humanCytoskeletal ProteinsDNAAF4 protein, humanNerve Tissue ProteinsNuclear ProteinsReceptors, ImmunologicRNA, MessengerRoundabout Proteins

Identifiers

PMID22426781
PMCPMC3375077
OpenAlexW2078584334

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.