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


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.

Type Journal
ISBN 2045-2322 (Electronic) 2045-2322 (Linking)
Authors Charng, J.; Simcoe, M.; Sanfilippo, P. G.; Allingham, R. R.; Hewitt, A. W.; Hammond, C. J.; Mackey, D. A.; Yazar, S.
Responsible Garvan Author Dr Seyhan Yazar
Publisher Name Scientific Reports
Published Date 2020-07-31
Published Volume 10
Published Issue 1
Published Pages 12485
Status Published in-print
DOI 10.1038/s41598-020-69524-8
URL link to publisher's version
OpenAccess link to author's accepted manuscript version