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 thei...

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Bibliographic Details
Published in:Scientific reports 2020-07, Vol.10 (1), p.12485-12485, Article 12485
Main Authors: Charng, Jason, Simcoe, Mark, Sanfilippo, Paul G., Allingham, R. Rand, Hewitt, Alex W., Hammond, Chris J., Mackey, David A., Yazar, Seyhan
Format: Article
Language:English
Subjects:
692/308/174
692/308/2056
Adult
Aged
Aging - genetics
Alleles
Female
Genetic Association Studies
Genetic diversity
Genetic variance
Glaucoma
Homeodomain Proteins - genetics
Humanities and Social Sciences
Humans
Male
Middle Aged
multidisciplinary
Nerve Fibers - pathology
Older people
Polymorphism
Polymorphism, Single Nucleotide - genetics
Retina
Retina - pathology
Science
Science (multidisciplinary)
SIX gene family
Trans-Activators - genetics
Young Adult
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Summary: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.
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-020-69524-8