Article
Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.
Investigative ophthalmology & visual science - 24 Apr 2014
Kaurani Lalit, Vishal Mansi, Kumar Dhirendra, Sharma Anchal, Mehani Bharati, Sharma Charu, Chakraborty Subhadip, Jha Pankaj, Ray Jharna, Sen Abhijit, Dash Debasis, Ray Kunal, Mukhopadhyay Arijit
Abstract excerpt
PURPOSE: Large copy number variations (CNV) can contribute to increased burden for neurodegenerative diseases. In this study, we analyzed the genome-wide burden of large CNVs > 100 kb in primary open angle glaucoma (POAG), a neurodegenerative disease of the eye that is the largest cause of irreversible blindness. METHODS: Genome-wide analysis of CNVs > 100 kb were analyzed in a total of 1720 individuals,...
Topics
- Adult
- Aged
- Contactins
- DNA
- DNA Copy Number Variations
- Ethnicity
- Female
- Gene Deletion
- Gene Duplication
- Genetic Variation
- Genome-Wide Association Study
- Genotype
- Glaucoma, Open-Angle