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Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism


Charng, J and Simcoe, M and Sanfilippo, PG and Allingham, RR and Hewitt, AW and Hammond, CJ and Mackey, DA and Yazar, S, Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism, Scientific Reports, 10, (1) Article 12485. ISSN 2045-2322 (2020) [Refereed Article]


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Copyright 2020 the authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1038/s41598-020-69524-8


SIX1/SIX6 polymorphism has been shown to be associated with glaucoma. Studies have also found that, in older adults, retinal nerve fibre layer (RNFL) thickness is significantly thinned with each copy of the risk allele in SIX1/SIX6. However, it is not known whether these genetic variants exert their effects in younger individuals. Comparing a healthy young adult with an older adult cohort (mean age 20 vs 63 years), both of Northern European descent, we found that there was no significant RNFL thinning in each copy of the risk alleles in SIX1/SIX6 in the eyes of younger individuals. The older cohort showed an unexpectedly thicker RNFL in the nasal sector with each copy of the risk allele for both the SIX1 (rs10483727) and SIX6 (rs33912345) variants. In the temporal sector, thinner RNFL was found with each copy of the risk allele in rs33912345 with a decrease trend observed in rs10483727. Our results suggest that SIX1/SIX6 gene variants exert their influence later in adult life.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Diagnosis of human diseases and conditions
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:152437
Year Published:2020
Deposited By:Menzies Institute for Medical Research
Deposited On:2022-08-19
Last Modified:2022-09-20
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