The optic nerve head has a normal physiological depression called the optic cup, which is like a cup. The optic cup is composed of the intersection of the optic nerve head at the inner border and a parallel line connecting it 150 µm above the end of the RPE. It has a normal proportion in the optic nerve head, if it is large, there is a possibility of glaucoma or other congenital myopia. Cup area (CA) is an optic nerve parameter and a POAG endophenotype with high heritability.
GWAS can help identify multiple loci associated with CA and POAG. Ace Therapeutics provides glaucoma genetics research services to our clients to identify novel genes associated with the POAG endophenotype CA through GWAS and potentially reveal novel glaucoma mechanisms.
Some Loci Associated with CA
Many of the CA loci that quantify the phenotype within the optic nerve have been identified. You can refer to the following table.
Table 1. Identified genetic loci associated with CA
| Category | Gene Loci |
|---|---|
| Related to CA and VCDR | CDKN2B/CDKN2B-AS1, CHEK2, HSF2, COL8A1, SSSCA1, SIX1/SIX6, BMP2 and RERE |
| Related to DA, CA and VCDR | ATOH7, SALL1 and TMTC2 |
| Related to CA | ASB7, BCAS3, DCLK1, DDHD1/BMP4, DHRS3, EFEMP1, FAM101, FLNB, KPNB1, TRIB2 and TRIOBP30 |
GWAS Services for CA
The identification of genetic risk factors may provide the possibility of early diagnosis of POAG as well as the discovery of potential mechanisms. We offer genetic analysis services to researchers around the world to realize this possibility, assessing the association between POAG and SNPs in CA-associated genomic regions.
- Study subjects and samples. Choose appropriate subjects and prepare study samples according to study needs, including animal models such as monkeys, dogs, rabbits, rats, mice, chickens and zebrafish, and examine the optic nerve head to determine CA parameters.
- Genome-wide analysis. Extract genomic DNA sequencing from peripheral blood of study subjects, study specific SNPs in candidate genomic regions, select SNPs associated with POAG for validation evaluation, and perform genotyping.
- Statistical analysis. Perform correlation analysis, structural analysis, personalization analysis, etc.
Our Expertise
We provide accurate, flexible and cost-effective solutions for whole genome analysis.
- Our services can be customized to meet client needs and can include a full range of services for genome-wide analysis, routine SNP analysis services, rapid genotyping, etc.
- Single-base based high-resolution genome-wide studies with a wide range of study materials and a wealth of variations available.
- Customized bioinformatics analysis that can include raw data quality control, GWAS analysis, gene expression, functional annotation, pathway analysis, etc.
Working with Ace Therapeutics will be a success story, as we contribute to your research through our experience and expertise in providing solutions in terms of equipment, technology and data analysis tools.
To obtain the relevant services, please contact us or fill out your order on our form and submit it, and we will follow the workflow for you.
References
- Dong Z, et al. Genome-wide association studies of glaucoma. Advances in Vision Research, Volume I. Essentials in Ophthalmology, 2017.
- Williams S, et al. The Genetics of POAG in Black South Africans: A Candidate Gene Association Study. Sci Rep 5, 2015, 8378.