Evidence map›Paper›PMID 19200526›Full record

ArticleAmerican journal of human genetics2009

A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12.

Julian E Asher, Janine A Lamb, Denise Brocklebank, Jean-Baptiste Cazier, Elena Maestrini, Laura Addis, Mallika Sen, Simon Baron-Cohen, Anthony P Monaco

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.

0numbers the graph read from it
0cells of the map it votes in
71citing papers in PubMed
12.4field-weighted citation impact, top 1% 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

71 citing papers in PubMed, 188 citations in OpenAlex.

  1. Training synesthetic letter-color associations by reading in color.Journal of visualized experiments : JoVE · 2014
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  10. Loving Objects: Can Autism Explain Objectophilia?Archives of sexual behavior · 2022
    Article
  11. Review
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  13. Reduced perceptual narrowing in synesthesia.Proceedings of the National Academy of Sciences of the United States of America · 2020
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  14. Article
  15. Synaesthetic colour associations for Japanese Kanji characters: from the perspective of grapheme learning.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019
    Article
  16. Learning in colour: children with grapheme-colour synaesthesia show cognitive benefits in vocabulary and self-evaluated reading.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019
    Article
  17. Neurophenomenology of induced and natural synaesthesia.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019
    Review
  18. Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019
    Article
  19. Echoes from the past: synaesthetic colour associations reflect childhood gender stereotypes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019
    Article
  20. Double-blind study of visual imagery in grapheme-color synesthesia.Cortex; a journal devoted to the study of the nervous system and behavior · 2019
    Article

11 more citing papers are in PubMed but not listed here.

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

9 authors at 4 institutions in 3 countries.

Julian E AsherWellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. j.asher@imperial.ac.uk
Janine A Lamb
Denise Brocklebank
Jean-Baptiste Cazier
Elena Maestrini
Laura Addis
Mallika Sen
Simon Baron-Cohen
Anthony P Monaco
Centre for Human Genetics · GBUniversity of Bologna · ITUniversity of Cambridge · GBUniversity of Manchester · GB

Funding

Medical Research CouncilWellcome Trust
6 · The paper itself

Abstract

Synesthesia, a neurological condition affecting between 0.05%-1% of the population, is characterized by anomalous sensory perception and associated alterations in cognitive function due to interference from synesthetic percepts. A stimulus in one sensory modality triggers an automatic, consistent response in either another modality or a different aspect of the same modality. Familiality studies show evidence of a strong genetic predisposition; whereas initial pedigree analyses supported a single-gene X-linked dominant mode of inheritance with a skewed F:M ratio and a notable absence of male-to-male transmission, subsequent analyses in larger samples indicated that the mode of inheritance was likely to be more complex. Here, we report the results of a whole-genome linkage scan for auditory-visual synesthesia with 410 microsatellite markers at 9.05 cM density in 43 multiplex families (n = 196) with potential candidate regions fine-mapped at 5 cM density. Using NPL and HLOD analysis, we identified four candidate regions. Significant linkage at the genome-wide level was detected to chromosome 2q24 (HLOD = 3.025, empirical genome-wide p = 0.047). Suggestive linkage was found to chromosomes 5q33, 6p12, and 12p12. No support was found for linkage to the X chromosome; furthermore, we have identified two confirmed cases of male-to-male transmission of synesthesia. Our results demonstrate that auditory-visual synesthesia is likely to be an oligogenic disorder subject to multiple modes of inheritance and locus heterogeneity. This study comprises a significant step toward identifying the genetic substrates underlying synesthesia, with important implications for our understanding of the role of genes in human cognition and perception.

Indexed as

Chromosomes, Human, Pair 12Chromosomes, Human, Pair 2Chromosomes, Human, Pair 5Chromosomes, Human, Pair 6Genome, HumanGenome-Wide Association StudyChromosome MappingFemaleGenetic MarkersGenetic Predisposition to DiseaseHallucinationsHumansMaleSex CharacteristicsGenetic Markers

Identifiers

PMID19200526
PMCPMC2668015
OpenAlexW2168897723

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.