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Clarifying the role of ATOH7 in glaucoma endophenotypes.

Publication ,  Journal Article
Venturini, C; Nag, A; Hysi, PG; Wang, JJ; Wong, TY; Healey, PR; Mitchell, P; Hammond, CJ; Viswanathan, AC ...
Published in: Br J Ophthalmol
April 2014

BACKGROUND/AIMS: The ATOH7 gene has been previously associated with glaucoma and glaucoma-related traits, such as disc size and cup/disc ratio (CDR). CDR is an important part of the glaucoma phenotype, whereas the relationship between the disc size and the disease is not well understood. The aim of this study was to investigate whether ATOH7 is associated independently with CDR or merely with the size of the optic disc. METHOD: We carried out an association analysis for a candidate region, including ATOH7 for two populations: the Blue Mountains Eye Study and the TwinsUK cohort. We performed three linear regression models for (1) disc size adjusted on age, sex and intraocular pressure (IOP), (2) CDR adjusted on age, sex and IOP and (3) CDR adjusted on age, sex, IOP and disc size. RESULTS: A strong signal was found at rs7916697 for disc size. This single nucleotide polymorphism (SNP) was also associated with CDR adjusted on age, sex and IOP. However, this SNP was not associated with CDR when adjusted on age, sex, IOP and also disc size. CONCLUSIONS: This study finds that ATOH7 is associated with optic disc size but not independently with CDR.

Duke Scholars

Published In

Br J Ophthalmol

DOI

EISSN

1468-2079

Publication Date

April 2014

Volume

98

Issue

4

Start / End Page

562 / 566

Location

England

Related Subject Headings

  • Young Adult
  • Tonometry, Ocular
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Optic Nerve Diseases
  • Optic Disk
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Linkage Disequilibrium
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Venturini, C., Nag, A., Hysi, P. G., Wang, J. J., Wong, T. Y., Healey, P. R., … Wellcome Trust Case Control Consortium 2, BMES GWAS Group, . (2014). Clarifying the role of ATOH7 in glaucoma endophenotypes. Br J Ophthalmol, 98(4), 562–566. https://doi.org/10.1136/bjophthalmol-2013-304080
Venturini, Cristina, Abhishek Nag, Pirro G. Hysi, Jie Jin Wang, Tien Y. Wong, Paul R. Healey, Paul Mitchell, Christopher J. Hammond, Ananth C. Viswanathan, and Ananth C. Wellcome Trust Case Control Consortium 2, BMES GWAS Group. “Clarifying the role of ATOH7 in glaucoma endophenotypes.Br J Ophthalmol 98, no. 4 (April 2014): 562–66. https://doi.org/10.1136/bjophthalmol-2013-304080.
Venturini C, Nag A, Hysi PG, Wang JJ, Wong TY, Healey PR, et al. Clarifying the role of ATOH7 in glaucoma endophenotypes. Br J Ophthalmol. 2014 Apr;98(4):562–6.
Venturini, Cristina, et al. “Clarifying the role of ATOH7 in glaucoma endophenotypes.Br J Ophthalmol, vol. 98, no. 4, Apr. 2014, pp. 562–66. Pubmed, doi:10.1136/bjophthalmol-2013-304080.
Venturini C, Nag A, Hysi PG, Wang JJ, Wong TY, Healey PR, Mitchell P, Hammond CJ, Viswanathan AC, Wellcome Trust Case Control Consortium 2, BMES GWAS Group. Clarifying the role of ATOH7 in glaucoma endophenotypes. Br J Ophthalmol. 2014 Apr;98(4):562–566.

Published In

Br J Ophthalmol

DOI

EISSN

1468-2079

Publication Date

April 2014

Volume

98

Issue

4

Start / End Page

562 / 566

Location

England

Related Subject Headings

  • Young Adult
  • Tonometry, Ocular
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Optic Nerve Diseases
  • Optic Disk
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Linkage Disequilibrium