Original articleGlaucoma Risk Alleles at CDKN2B-AS1 Are Associated with Lower Intraocular Pressure, Normal-Tension Glaucoma, and Advanced Glaucoma
Section snippets
Participants
Participants were drawn from the Australian & New Zealand Registry of Advanced Glaucoma, the Glaucoma Inheritance Study in Tasmania, the Blue Mountains Eye Study, and patients attending the eye clinic at Flinders Medical Centre, Adelaide, Australia. All participants were included in the study reporting the association of CDKN2B-AS1 with OAG, and the cohorts and clinical definitions are as described in detail in that report.1 Briefly, advanced glaucoma was defined by severe visual loss resulting
Results
Data from 1432 individuals with glaucoma were available. As expected, compared with the normal population, this cohort had elevated IOP, thinner CCT, and significant visual field defects (Table 1). The mean age at diagnosis of glaucoma was 62.4 years. Approximately 36% of the cohort had a highest recorded IOP of less than 22 mmHg, and 63% were classified as having advanced glaucoma. The mean IOP by subgroup is given in Table 2 (available at http://aaojournal.org), and the overlap between HTG
Discussion
An association between SNPs at chromosome 9p21 and VCDR was demonstrated previously in normal populations.3 The current study investigated patients with POAG, of which 63% had advanced disease. Because VCDR is a diagnostic feature of POAG and was used as an inclusion criterion for the definition of less severe glaucoma, this sample is skewed toward the upper range for this phenotype (i.e., >0.7). Although the association is not as strong as reported previously, it is still evident in this
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Manuscript no. 2011-1555.
Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Supported by the National Health and Medical Research Council (NHMRC) of Australia (grant nos.: 535074, 577074, 974159, 211069, and 457349); NHMRC Career Development Award (KPB); NHMRC Practitioner Fellowship (JEC); and a Royal Australian and New Zealand College of Ophthalmology (RANZCO) Eye Foundation Grant. The sponsor or funding organization had no role in the design or conduct of this research.