The juvenile glaucoma gene on 1q21-q31 is not associated with primary open angle glaucoma (POAG)

Document Type





Purpose: One locus for a form of juvenile primary open angle glaucoma has been mapped to the 1q21-q31 region of human chromosome 1. To determine if adult onset primary open angle glaucoma (POAG) is also caused by mutations a gene located in this region, we performed genetic linkage studies using affected sibpairs from pedigrees affected by POAG.
Methods: Affected sibships belonging to pedigrees from the greater New England area or from North Carolina were examined by one of the authors. Patients were determined to be affected if they demonstrated an elevation of intraocular pressure greater than 21 mmHg (without treatment), had evidence of optic nerve degeneration characteristic of glaucoma, and did not have any evidence of any secondary glaucoma. DNA samples from appropriate individuals were analyzed using microsatellite repeat markers previously mapped to the 1q21-q31 region. Linkage analysis was performed using both model-dependent (LOD score) and model-independent (sibpair and affected pedigree member (APM)) methods.
Results: Nineteen affected sibpairs (7 families) from North Carolina, and eighteen affected sibpairs (7 families) from New England were identified for this study. DNA samples from the combined set were analyzed using markers D1S194, D1S196, D1S433, D1S452, D1S212, D1S218, and D1S242. LOD score analysis excluded significant linkage to these markers when assuming either a dominant or recessive genetic model. In addition, there was no significant evidence of linkage with either the sibpair or APM analyses.
Conclusion: These data suggest that the gene for juvenile open-angle glaucoma mapped to 1q21-q31 is not a major cause of the adult form of the disease. Analysis of this group of sibpairs affected by POAG at other regions of the human genome, including the locus for Rieger's syndrome (4q25-q27), Aniridia (11p13) and Stickler's syndrome (12q13) is in progress.


This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Investigative Ophthalmology and Visual Science