https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:20566 Wed 11 Apr 2018 10:41:17 AEST ]]> Gene Expression and Pathways Underlying Form Deprivation Myopia in the Guinea Pig Sclera https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:47653 Tue 24 Jan 2023 15:19:24 AEDT ]]> Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:15068 Tue 13 Aug 2024 09:53:29 AEST ]]> Genetic loci for retinal arteriolar microcirculation https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:15066 Tue 13 Aug 2024 09:25:34 AEST ]]> Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:13258 Sat 24 Mar 2018 08:15:59 AEDT ]]> Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study Cohort https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:28445 −2 at rs685352 to 6.4x10−4 at rs560764, whereas association could not be confirmed for SNPs at the 15q25 locus, with P values ranging from 8.0x10−1 to 6.4x10−1. Ocular biometric analysis revealed that axial length was the most likely trait underlying the refractive error association at the 15q14 locus for SNPs rs560766 (P =0.0054), rs634990 (P =0.0086), and rs8032019 (P =0.0081). Conclusions: Our results confirm the association with refractive error at the 15q14 locus but do not support the association observed at the 15q25 locus. Axial length seemed to be a major parameter at the 15q14 locus, underscoring the importance of this locus in myopia and future clinical treatment. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.]]> Sat 24 Mar 2018 07:29:01 AEDT ]]> Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:28356 −9) in a combined discovery and replication set (26 953 samples). This single nucleotide polymorphism (SNP) is located within the RBFOX1 gene which is a neuron-specific splicing factor regulating a wide range of alternative splicing events implicated in neuronal development and maturation, including transcription factors, other splicing factors and synaptic proteins.]]> Sat 24 Mar 2018 07:25:12 AEDT ]]> Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:32383 20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r =-0.62, P = 5.30 × 10 -5 ) but not between CCT and primary open-angle glaucoma (r =-0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.]]> Mon 23 Sep 2019 12:09:41 AEST ]]>