PCR-SSCP ANALYSIS OF THE GLUCOCORTICOID-RESPONSIVE ELEMENT OF THE ATRIAL-NATRIURETIC-PEPTIDE GENE IN FAMILIAL PRIMARY OPEN-ANGLE GLAUCOMA

1. Familial primary open-angle glaucoma (POAG) is a heterogeneous dise ase of unknown aetiology and the elucidation of the underlying genetic mechanisms contributing to phenotypic expression will be essential if earlier diagnosis of at-risk individuals and more specific medical tr eatment can be achieved, In a significant percentage of patients with POAG, intraocular pressure increases in response to topical ocular glu cocorticoids. 2. Atrial natriuretic peptide (ANP) assists in the regul ation of intraocular pressure levels and binding of the glucocorticoid receptor dimer to the glucocorticoid-responsive element in intron 2 o f the ANP gene has been shown to increase ANP mRNA levels in vitro, We amplified and examined this sequence in the ANP gene by PCR-SSCP anal ysis in 100 patients with familial POAG and in 60 normal control subje cts, No base alterations in the amplified product were found, 3. Thus, the present study found no evidence for an alteration in the sequence of the glucocorticoid-responsive element of the ANP gene that could a lter ANP gene transcription in patients with familial POAG, The mechan ism responsible for the increase in intraocular pressure levels in res ponse to glucocorticoids is most likely independent of the glucocortic oid-responsive element in the ANP gene.