年龄相关的 SIX1/SIX6 多态性与视网膜神经纤维区域性改变的关系。
Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.
机构信息
Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun St, Perth, WA, 6009, Australia.
Department of Twin Research and Genetic Epidemiology, Kings College London, London, UK.
出版信息
Sci Rep. 2020 Jul 27;10(1):12485. 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.
SIX1/SIX6 多态性与青光眼有关。研究还发现，在老年人中，SIX1/SIX6 中的每个风险等位基因都会导致视网膜神经纤维层 (RNFL) 厚度显著变薄。然而，目前尚不清楚这些遗传变异是否会在年轻人中发挥作用。我们将一个健康的年轻成年人与一个年龄较大的成年人队列（平均年龄 20 岁与 63 岁；均为北欧血统）进行比较，发现 SIX1/SIX6 中的每个风险等位基因在年轻人的眼睛中并没有导致 RNFL 明显变薄。而年龄较大的队列在每个风险等位基因中（SIX1 的 rs10483727 和 SIX6 的 rs33912345）均显示出鼻侧 RNFL 异常增厚，而在颞侧则随着 rs33912345 中风险等位基因的增加，RNFL 变薄。我们的研究结果表明，SIX1/SIX6 基因变异在成年后期才会发挥作用。
Zotero 插件