The optic disc is located at the back of the eye where the optic nerve is formed. The vertical cup to disc ratio (VCDR), which is the ratio of the vertical diameter of the optic cup to the vertical diameter of the optic disc, can often be used to characterize the degree of depression of the optic disc and is an important endophenotype of POAG. VCDR can also be used as a diagnostic feature of POAG and can be used to assess optic nerve damage by optic disc examination.
The etiology of POAG is complex, and its mechanisms may be better elucidated by identifying factors that influence individual quantitative traits, such as VCDR. Ace Therapeutics provides a large number of GWAS to identify genetic variants associated with VCDR to further our understanding of the genetic architecture of VCDR and to help elucidate the pathogenesis of POAG.
Vertical Cup/Disk Ratio
Fig.1 3D illustration of optic disk.
The VCDR is a parameter characterizing the ratio of cup diameter to the diameter of the entire optic disc, and a larger ratio indicates more significant optic nerve damage, which is likely to be diagnosed as POAG. Similar to IOP, variants associated with VCDR may contribute to the mechanism of POAG pathogenesis. To date, a number of VCDR-related GWAS have identified associated genetic variants. The identified VCDR-associated loci, include CDKN2B, SIX1, SCYL1, CHEK2, ATOH7-PBLD, DCLK1, BCAS3, RERE, ARID3A, CDC7-TGFBR3, TMTC2 and RPAP3.
However, most of the current studies are GWAS with limited numbers and populations. our service is to identify novel SNPs associated with phenotypic VCDR within POAG by GWAS and provide innovative studies for glaucoma genetics. More comprehensive information on these and other genetic elements is obtained by identifying novel variants and analyzing gene expression and functional validation.
Sample Collection and Data Analysis
- Study subjects. Participant samples from specific populations with glaucoma and non-glaucoma controls may be included, and blood and saliva samples from subjects may be collected.
- Molecular genetic analysis. To isolate genomic DNA from samples, perform PCR amplification of genes and sequencing analysis to determine SNP status and assess the association of genetic variants with POAG. Analyze by ANOVA to determine if VCDR variables associated with POAG are associated with variation at the locus.
Variants Validation
We select and identify potential novel variants by analysis of samples, and all variants within significantly related genes can be independently validated. We offer analyses including but not limited to the following.
- Capillary sequencing
- Bioinformatic annotation
- Pathway analysis
- Tissue expression analysis
- Biological functional analysis
Our POAG genetic analysis service will be a time- and cost-efficient method capable of elucidating potential pathologies that can be applied to include translation of genomic findings into clinical practice and assessment of genetic variants associated with drug response.
Ace Therapeutics’ services are dedicated to helping our clients make significant research advances in the VCDR gene associated with POAG. We look forward to your contacting us and are committed to providing you with the highest quality of service.
References
- Nannini D R, et al. A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population. Invest Ophthalmol Vis Sci, 2017, 58(1):87-95.
- Zhou T, et al. Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma. Molecular Genetics & Genomic Medicine, 2016, 4(6).