Original articleCDKN2B-AS1 Genotype–Glaucoma Feature Correlations in Primary Open-Angle Glaucoma Patients From the United States
Section snippets
Description of the Study Populations
The GLAUGEN study consists of POAG cases and controls drawn from the Nurses’ Health Study (NHS), the Health Professionals Follow-up Study (HPFS), and the Genetic Etiologies of Primary Open-Angle Glaucoma study (GEP). The former 2 studies are population-based, nested case-control studies and the latter study is a clinic-based case-control study from the Massachusetts Eye and Ear Infirmary (MEEI). Details regarding the inclusion/exclusion criteria for the GLAUGEN POAG case-control cohort have
Results
The 976 GLAUGEN patients and 1971 NEIGHBOR patients for whom we recorded the age at diagnosis represents 100% (976/976) and 90.8% (1971/2170) of the POAG cases, respectively, that completed high-throughput genotyping in these cohorts. Tables 2 and 3 summarize the demographic and ocular features for POAG cases. The mean age at diagnosis was slightly less in GLAUGEN than in NEIGHBOR. The minimal age at diagnosis in these studies corresponds to the minimal age criteria for inclusion in the
Discussion
POAG cases with the minor alleles in rs3217992 (which increases POAG risk) had larger cup-to-disc ratios at diagnosis and a higher PSD on the earliest available VF manifesting functional loss, despite having lower IOP at DNA collection. In contrast, cases with minor alleles in selected SNPs that reduce POAG risk had smaller cup-to-disc ratios at diagnosis and increased chance of peripheral VF loss only on the earliest VF, despite an increased IOP at DNA collection. These data suggest that
Louis Pasquale is the Glaucoma Service Director at Massachusetts Eye and Ear Infirmary and Associate Professor of Ophthalmology at Harvard Medical School, Boston, Massachusetts. He is also co-director of the Harvard Glaucoma Center of Excellence. He is also an National Institutes of Health (NIH) Principal Investigator with continuous support since 2006. In 2011, Dr Pasquale was appointed as Distinguished Scholar in Ophthalmology at Harvard Medical School. He seeks opportunities to translate
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Cited by (0)
Louis Pasquale is the Glaucoma Service Director at Massachusetts Eye and Ear Infirmary and Associate Professor of Ophthalmology at Harvard Medical School, Boston, Massachusetts. He is also co-director of the Harvard Glaucoma Center of Excellence. He is also an National Institutes of Health (NIH) Principal Investigator with continuous support since 2006. In 2011, Dr Pasquale was appointed as Distinguished Scholar in Ophthalmology at Harvard Medical School. He seeks opportunities to translate basic science discoveries into better treatments for glaucoma patients.
Supplemental Material available at AJO.com.
Dr McCarty is now at Essentia Institute of Rural Health, Duluth, Minnesota, and Dr Yaspan is now at Genentech Inc, San Francisco, California.