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Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.
Jason Charng1, Mark Simcoe2, Paul G Sanfilippo1,3
1Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun St, Perth, WA, 6009, Australia.
Scientific Reports
|July 29, 2020
Summary
Genetic variants in SIX1/SIX6 influence glaucoma risk. While linked to thinner retinal nerve fiber layer (RNFL) in older adults, these SIX1/SIX6 gene variants show no effect in younger individuals.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Polymorphisms in SIX1/SIX6 are associated with glaucoma.
- Previous studies indicate that SIX1/SIX6 risk alleles correlate with reduced retinal nerve fiber layer (RNFL) thickness in older adults.
Purpose of the Study:
- To investigate whether SIX1/SIX6 genetic variants affect RNFL thickness in younger individuals.
- To compare the impact of SIX1/SIX6 variants on RNFL thickness between young and older adult cohorts.
Main Methods:
- Comparison of RNFL thickness in healthy young adults (mean age 20) and older adults (mean age 63) of Northern European descent.
- Analysis of SIX1 (rs10483727) and SIX6 (rs33912345) polymorphisms and their association with RNFL thickness in different ocular sectors.
Main Results:
- No significant association was found between SIX1/SIX6 risk alleles and RNFL thinning in younger individuals.
- In older adults, SIX1 and SIX6 risk alleles were associated with thicker RNFL in the nasal sector.
- In the temporal sector of older adults, the SIX6 risk allele (rs33912345) was linked to thinner RNFL, with a similar trend for the SIX1 variant (rs10483727).
Conclusions:
- The influence of SIX1/SIX6 gene variants on RNFL thickness appears to manifest later in adult life.
- Age is a critical factor in the manifestation of SIX1/SIX6 genetic effects on retinal structure.
