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Cited by 164

The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.

Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill

Open access
Brandler, William M., Morris, Andrew P., Evans, David M., Scerri, Thomas S., Kemp, John P., Timpson, Nicholas J., St Pourcain, Beate, Smith, George Davey, Ring, Susan M., Stein, John, Monaco, Anthony P., Talcott, Joel B., Fisher, Simon E., Webber, Caleb, Paracchini, Silvia·2013·PLoS Genetics

Abstract

Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these asymmetries is unknown. We report a genome-wide association study meta-analysis for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)] (n = 728). The most strongly associated variant, rs7182874 (P = 8.68 × 10(-9)), is located in PCSK6, further supporting an association we previously reported. We also confirmed the specificity of this association in individuals with RD; the same locus was not associated with relative hand skill in a general population cohort (n = 2,666). As PCSK6 is known to regulate NODAL in the development of left/right (LR) asymmetry in mice, we developed a novel approach to GWAS pathway analysis, using gene-set enrichment to test for an over-representation of highly associated variants within the orthologs of genes whose disruption in mice yields LR asymmetry phenotypes. Four out of 15 LR asymmetry phenotypes showed an over-representation (FDR ≤ 5%). We replicated three of these phenotypes; situs inversus, heterotaxia, and double outlet right ventricle, in the general population cohort (FDR ≤ 5%). Our findings lead us to propose that handedness is a polygenic trait controlled in part by the molecular mechanisms that establish LR body asymmetry early in development.

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Metadata

Authors
Brandler, W. M., Morris, A. P., Evans, D. M., Scerri, T. S., Kemp, J. P., Timpson, N. J., St Pourcain, B., Smith, G. D., Ring, S. M., Stein, J., Monaco, A. P., Talcott, J. B., Fisher, S. E., Webber, C., & Paracchini, S.
Venue
PLoS Genetics
Published
2013-09-12
Volume
9
Issue
9
Pages
e1003751
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
OpenAlex
W2145827570
Cited by
164
References
6
FWCI
8.08
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill. https://app.cochat.ai/papers/10.1371/journal.pgen.1003751
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Brandler, W. M., Morris, A. P., Evans, D. M., Scerri, T. S., Kemp, J. P., Timpson, N. J., St Pourcain, B., Smith, G. D., Ring, S. M., Stein, J., Monaco, A. P., Talcott, J. B., Fisher, S. E., Webber, C., & Paracchini, S. (2013). Common Variants in Left/Right Asymmetry Genes and Pathways Are Associated with Relative Hand Skill. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1003751

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.