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Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.

Publication ,  Journal Article
Cheng, C-Y; Allingham, RR; Aung, T; Tham, Y-C; Hauser, MA; Vithana, EN; Khor, CC; Wong, TY
Published in: Invest Ophthalmol Vis Sci
December 23, 2014

PURPOSE: Recently the common SIX6 missense variant rs33912345 was found to be highly associated with glaucoma. The aim of this study was to investigate the association between this SIX6 variant and peripapillary retinal nerve fiber layer (RNFL) thickness measured by spectral-domain optical coherence tomography (SD-OCT) in a population setting. METHODS: Study subjects were enrolled from the Singapore Chinese Eye Study (SCES), a population-based survey of Singaporean Chinese aged 40 years or older. Subjects underwent a comprehensive ocular examination. Spectral-domain OCT was used to measure RNFL thicknesses. Genotyping of SIX6 rs33912345 (Asn141His) was performed using HumanExome BeadChip. RESULTS: A total of 2129 eyes from 1243 SCES subjects (mean age: 55.0 ± 7.4 years) with rs33912345 genotype data and SD-OCT images were included for the analysis. Of these, 26 eyes of 21 subjects had glaucoma. The frequency of rs33912345 risk variant C (His141) was 80% in the study subjects. Each rs33912345 C allele was associated with a decrease of 1.44 μm in RNFL thickness after adjusting for age, sex, genetic principal components, and axial length (P = 0.001). These associations remained similar in 2096 nonglaucoma eyes in which each C allele was associated with a decrease of 1.39 μm in RNFL thickness (P = 0.001). The strongest association was observed in the superior RNFL sector (a decrease of 2.83 μm per risk allele, P < 0.001) followed by the inferior RNFL sector (a decrease of 2.24 μm per risk allele, P = 0.003), while the association did not reach significance in the nasal and temporal sectors. CONCLUSIONS: Nonglaucomatous individuals with the SIX6 missense variant have reduced RNFL thickness in regions known to be particularly affected in those with glaucoma. This may be the primary mechanism for increased risk of POAG in individuals who carry the SIX6 His141 risk variant.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

December 23, 2014

Volume

56

Issue

1

Start / End Page

478 / 483

Location

United States

Related Subject Headings

  • Trans-Activators
  • Tomography, Optical Coherence
  • Singapore
  • Retrospective Studies
  • Retinal Ganglion Cells
  • Polymorphism, Genetic
  • Ophthalmology & Optometry
  • Nerve Fibers
  • Middle Aged
  • Male
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Cheng, C.-Y., Allingham, R. R., Aung, T., Tham, Y.-C., Hauser, M. A., Vithana, E. N., … Wong, T. Y. (2014). Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study. Invest Ophthalmol Vis Sci, 56(1), 478–483. https://doi.org/10.1167/iovs.14-15863
Cheng, Ching-Yu, R Rand Allingham, Tin Aung, Yih-Chung Tham, Michael A. Hauser, Eranga N. Vithana, Chiea Chuen Khor, and Tien Yin Wong. “Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.Invest Ophthalmol Vis Sci 56, no. 1 (December 23, 2014): 478–83. https://doi.org/10.1167/iovs.14-15863.
Cheng C-Y, Allingham RR, Aung T, Tham Y-C, Hauser MA, Vithana EN, et al. Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study. Invest Ophthalmol Vis Sci. 2014 Dec 23;56(1):478–83.
Cheng, Ching-Yu, et al. “Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.Invest Ophthalmol Vis Sci, vol. 56, no. 1, Dec. 2014, pp. 478–83. Pubmed, doi:10.1167/iovs.14-15863.
Cheng C-Y, Allingham RR, Aung T, Tham Y-C, Hauser MA, Vithana EN, Khor CC, Wong TY. Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study. Invest Ophthalmol Vis Sci. 2014 Dec 23;56(1):478–483.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

December 23, 2014

Volume

56

Issue

1

Start / End Page

478 / 483

Location

United States

Related Subject Headings

  • Trans-Activators
  • Tomography, Optical Coherence
  • Singapore
  • Retrospective Studies
  • Retinal Ganglion Cells
  • Polymorphism, Genetic
  • Ophthalmology & Optometry
  • Nerve Fibers
  • Middle Aged
  • Male