Gene clue to childhood eye disorder
doi:10.1038/nindia.2010.137 Published online 30 September 2010
Researchers have resequenced a gene known for its involvement in primary congential glaucoma to pinpoint exactly how it triggers the childhood genetic disorder.
Primary congenital glaucoma (PCG) is a childhood genetic disorder caused by developmental defects. These defects cause raised intraocular pressure (IOP) or fluid pressure of the aqueous humor inside the eye. This damages the optic nerve and if left untreated, results in irreversible blindness.
Earlier research has established that mutations in the CYP1B1 gene on the GLC3A locus on chromosome 2p21 are associated with PCG. However, not much was known about its promoter region.
The researchers resequenced the CYP1B1 promoter in a large population that included patients with PCG and other primary glaucomas. They found evidence of strong association of a single nucleotide polymorphism in PCG and not in other primary glaucomas.
This is the first study showing the functional involvement of a CYP1B1 promoter variant in PCG.
- Chakrabarti, S. et al. A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. Hum. Mol. Genet. 19, 4083-4090 (2010) | Article