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

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posted on 2023-05-21, 12:06 authored by Charng, J, Simcoe, M, Sanfilippo, PG, Allingham, RR, Alexander HewittAlexander Hewitt, Hammond, CJ, Mackey, DA, Yazar, S
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.


Publication title

Scientific Reports



Article number







Menzies Institute for Medical Research


Nature Publishing Group

Place of publication

United Kingdom

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

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  • Open

Socio-economic Objectives

Diagnosis of human diseases and conditions

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