Primary open-angle glaucoma (POAG) is the more common type of glaucoma and may be caused by a complex interaction of genetic and environmental factors. Elevated intraocular pressure (IOP) is an important risk factor for the development of POAG and can be used as a measurable endophenotype closely related to the disease phenotype, with genome-wide association studies (GWAS) to identify disease-associated genetic variants.
Ace Therapeutics provides IOP-related genome-wide significant SNP analysis services, including functional annotation of relevant variants, expression analysis of novel candidate genes and gene set enrichment analysis, and we provide new insights into the genetic basis of POAG by identifying novel POAG-associated loci through GWAS.
Introduction of SNP Analysis Associated with IOP
IOP is controlled by balancing atrial aqueous production from the ciliary body with drainage of the drainage structures, and when atrial aqueous drainage is inefficient it can lead to an increase in IOP, which can lead to damage to retinal ganglion cells and thus impairment of vision. The mechanisms of IOP are not well understood and genetic identification may help to investigate the underlying mechanisms of IOP variation and assist in the exploration of glaucoma susceptibility.
Multiple IOP-associated loci have been identified by GWAS, including ARHGEF12 (11q23.3), TMCO1 (1q24.1) and GAS7 (17p13.1), which are highly expressed in the ciliary body, trabecular meshwork, lamina cribrosa, optic nerve and retina. Our service is designed to help glaucoma researchers discover additional locus in the IOP GWAS, identify independent genome-wide significant SNPs, and examine the relevance of these locus to glaucoma.
Fig. 1 Increased intraocular pressure and injury to the optic nerve.
Construction of MHC Over-Expressing Cell Line
We can perform IOP GWAS on large sample sizes and species-diverse biological samples and validate genome-wide significant associations. The aim of our studies is to help identify a large number of novel loci associated with IOP to help clients better understand risk factors for glaucoma susceptibility and progression.
- IOP measurements. To perform IOP measurements to ensure low error in measurement time, target population, measurement technique, and sample characterization accuracy, ensuring the ability to detect novel associations with genetic loci.
- Novel significant IOP loci discovery. Candidate SNPs from GWAS results, such as genes including TMCO1, FNDC3B, CAV1, ABCA1, FAM125B/LMX1B, ABO, ARHGEF12, ADAMTS8 and GAS7, are subjected to association analysis, pathway analysis, genetic correlation analysis, functional annotation, pleiotropy analysis, expression analysis in ocular tissues, and identification of potential IOP neo-loci.
- In silico analyses. Prioritization of potentially linked genes.
Benefits of Our IOP-Related SNP Analysis
- Identification of new IOP variant trait associations, we have reported over a thousand trait and disease associations.
- Multi-gene risk scores can be developed for early detection, prevention or treatment of glaucoma as well as for drug development and screening.
- Our data is diverse, sharable and can be analyzed at high throughput.
Ace Therapeutics provides innovative and flexible research services to meet our clients' glaucoma research needs, our highly professional and comprehensive range of research services are driving breakthroughs in glaucoma research and practical applications. If you would like to learn about genome-wide association studies in glaucoma, please contact us.
We look forward to your enquiry and are committed to providing you with the highest quality of service.
References
- Dong Z, et al. Genome-wide association studies of glaucoma. Advances in Vision Research, Volume I. Essentials in Ophthalmology, 2017.
- Choquet H, et al. A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. Nat Commun 8, 2017,2108.