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Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts.

Publication ,  Journal Article
Hysi, PG; Mahroo, OA; Cumberland, P; Wojciechowski, R; Williams, KM; Young, TL; Mackey, DA; Rahi, JS; Hammond, CJ
Published in: JAMA Ophthalmol
January 2014

IMPORTANCE: To date, relatively few genes responsible for a fraction of heritability have been identified by means of large genetic association studies of refractive error. OBJECTIVE: To explore the genetic mechanisms that lead to refractive error in the general population. DESIGN, SETTING, AND PARTICIPANTS: Genome-wide association studies were carried out in 2 British population-based independent cohorts (N = 5928 participants) to identify genes moderately associated with refractive error. MAIN OUTCOMES AND MEASURES: Enrichment analyses were used to identify sets of genes overrepresented in both cohorts. Enriched groups of genes were compared between both participating cohorts as a further measure against random noise. RESULTS: Groups of genes enriched at highly significant statistical levels were remarkably consistent in both cohorts. In particular, these results indicated that plasma membrane (P = 7.64 × 10⁻³⁰), cell-cell adhesion (P = 2.42 × 10⁻¹⁸), synaptic transmission (P = 2.70 × 10⁻¹⁴), calcium ion binding (P = 3.55 × 10⁻¹⁵), and cation channel activity (P = 2.77 × 10⁻¹⁴) were significantly overrepresented in relation to refractive error. CONCLUSIONS AND RELEVANCE: These findings provide evidence that development of refractive error in the general population is related to the intensity of photosignal transduced from the retina, which may have implications for future interventions to minimize this disorder. Pathways connected to the procession of the nerve impulse are major mechanisms involved in the development of refractive error in populations of European origin.

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Published In

JAMA Ophthalmol

DOI

EISSN

2168-6173

Publication Date

January 2014

Volume

132

Issue

1

Start / End Page

50 / 56

Location

United States

Related Subject Headings

  • United Kingdom
  • Twin Studies as Topic
  • Synaptic Transmission
  • Refractive Errors
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Humans
  • Genotype
 

Citation

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Chicago
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Hysi, P. G., Mahroo, O. A., Cumberland, P., Wojciechowski, R., Williams, K. M., Young, T. L., … Hammond, C. J. (2014). Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. JAMA Ophthalmol, 132(1), 50–56. https://doi.org/10.1001/jamaophthalmol.2013.6022
Hysi, Pirro G., Omar A. Mahroo, Phillippa Cumberland, Robert Wojciechowski, Katie M. Williams, Terri L. Young, David A. Mackey, Jugnoo S. Rahi, and Christopher J. Hammond. “Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts.JAMA Ophthalmol 132, no. 1 (January 2014): 50–56. https://doi.org/10.1001/jamaophthalmol.2013.6022.
Hysi PG, Mahroo OA, Cumberland P, Wojciechowski R, Williams KM, Young TL, et al. Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. JAMA Ophthalmol. 2014 Jan;132(1):50–6.
Hysi, Pirro G., et al. “Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts.JAMA Ophthalmol, vol. 132, no. 1, Jan. 2014, pp. 50–56. Pubmed, doi:10.1001/jamaophthalmol.2013.6022.
Hysi PG, Mahroo OA, Cumberland P, Wojciechowski R, Williams KM, Young TL, Mackey DA, Rahi JS, Hammond CJ. Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. JAMA Ophthalmol. 2014 Jan;132(1):50–56.

Published In

JAMA Ophthalmol

DOI

EISSN

2168-6173

Publication Date

January 2014

Volume

132

Issue

1

Start / End Page

50 / 56

Location

United States

Related Subject Headings

  • United Kingdom
  • Twin Studies as Topic
  • Synaptic Transmission
  • Refractive Errors
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Humans
  • Genotype