The important endophenotypes of POAG include optic disc-related parameters that are measurable characteristics, including optic disc area (DA). The genetic component of endophenotypes is usually quantified by heritability, and DA has a heritability of 0.72, which is among the higher POAG-related endophenotypes with high heritability. SNPs are major contributors to genetic variation, Ace Therapeutics provides SNP analysis services for DA, including GWAS identification of loci associated with multiple DA parameters and POAG and identification of SNPs associated with DA and POAG in candidate gene regions.
DA-Related Loci
The optic nerve disc, also called the optic nerve head, is a reddish disc-like structure with a diameter of about 1.5 mm and a clear border about 3 mm from the macula to the nasal side of the retina, called the optic nerve disc, or optic disc for short. This is the part of the retina where the visual fibers come together to penetrate the eye and is the beginning of the optic nerve. Because there are no photoreceptor cells at this site.
Fig. 1 The optic disc in the internal structure of the human eye.
DA contributes to the genetic power of glaucoma, and its study can help dissect POAG, which is complex and has diverse endophenotypes, and several GWAS have identified loci associated with multiple optic disc parameters and POAG. For DA, 14 loci have been identified, five of which are also associated with VCDR, including CDC7/TGFβR3, CARD10, ATOH7, SALL1, TMTC2, ABI3BP, CDC42BPA, DCAF4L2, F5, DIRC3, ELP4, HORMAD2, NR2F2 and RARB.
Services for SNP Analysis Associated with DA
We offer you a number of options when it comes to SNP analysis for DA. Our comprehensive services enable researchers to explore POAG-associated genetic variants such as SNPs. High-throughput sequencing technologies, bioinformatics capabilities can help provide greater insight into glaucoma etiology at the molecular level.
- GWAS. Comparison of genome-wide DA-related genetic differences in controls for use as markers in linkage and association studies, followed by studies to confirm and validate whether the genetic variation is a potential genetic change in DA.
- SNP genotyping. To identify DA-associated SNP loci at genome-wide scale or within genomic regions of interest, technologies for SNP genotyping such as high-throughput sequencing, SNP microarrays, and several public databases are available to identify the genotypes of specific SNPs.
Service Highlights
- Reliable assay development. Our professional and experienced scientists can develop robust and reproducible assays and methods for the SNP of your interest.
- High-throughput processing. Target SNPs are amplified using optimized assays, and the amplicons are purified and efficiently sequenced in our high-throughput technology platform.
- Accurate data analysis. SNPs are identified by the software program and confirmed by the person in charge to ensure the accuracy of the reported data. Customizable reports are available upon request to obtain a complete start-to-finish view of the experimental procedure and results.
- Flexible service options. We can adapt and develop new services to meet the research needs of each client based on different experimental requirements.
Ace Therapeutics’ SNP analysis service for POAG's endophenotype DA is a customized, high-throughput technology-based solution for accelerating SNP screening analysis and quickly and accurately validating SNPs of interest. For every researcher, we offer you services that can help you achieve your goals. Let us show you how we can help you, contact us now to request our services.
Reference
- Trivli A, et al. Primary open angle glaucoma genetics: The common variants and their clinical associations (Review). Mol Med Rep, 2020, 22: 1103-1110.