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Miscellaneous (41)

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Abstract #76729 Published in IGR 19-3

Family History in the Primary Open-Angle African American Glaucoma Genetics Study Cohort

O'Brien JM; Salowe RJ; Fertig R; Salinas J; Pistilli M; Sankar PS; Miller-Ellis E; Lehman A; Murphy WHA; Homsher M; Gordon K; Ying GS
American Journal of Ophthalmology 2018; 192: 239-247

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PURPOSE: To determine the relationship between positive family history (FH) and primary open-angle glaucoma (POAG) diagnosis and clinical presentation in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) cohort. METHODS: FH of POAG in first-degree relatives was assessed in 2365 subjects in the POAAGG cohort. A standardized interview was used to assess FH of glaucoma, demographic characteristics, lifestyle choices, and medical and ocular comorbidities. RESULTS: Positive FH was associated with increased risk of POAG (age-adjusted odds ratio and 95% confidence interval 3.4 [2.8, 4.1]). In age-adjusted analysis among POAG cases, positive FH was associated with younger age (P < .001), female sex (P < .001), hypertension (P = .006), use of hypertension medication (P = .03), and prior glaucoma surgery (P = .02). Cases with positive FH also had thicker retinal nerve fiber layers (P = .03). CONCLUSIONS: The risk conferred by positive FH suggests strong genetic underpinnings for some patients with this disease, which will be investigated by genome-wide association studies and whole exome sequencing.

Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: joan.o'brien@uphs.upenn.edu.

Full article

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Classification:

1.2 Population genetics (Part of: 1 General aspects)

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