Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records

Table 1 Study population characteristics of primary open-angle glaucoma cases and controls among African Americans in EAGLE BioVU

Trait	Cases (n = 138)	Controls (1376)	p-value
Median age at diagnosis or LCV (years)	62.0 (12.0)	67.3 (7.8)	0.01
% female	63.7	56.5	0.10
% hypertensive	55.1	52.5	0.50
Median BMI (kg/m²)	30.1 (6.7)	28.8 (7.35)	0.44
Median diastolic blood pressure (mm/Hg)	74.5 (8.1)	76.0 (8.8)	0.97
Median systolic blood pressure (mm/Hg)	134.5 (14.1)	135 (14.6)	0.88
Median cholesterol (mg/dL)	183 (40.6)	169 (46.7)	0.01
Median HDL-C (mg/dL)	52.5 (25.0)	49 (17.8)	0.88
Median LDL-C (mg/dL)	103 (42.9)	93 (37.4)	0.20
Median triglycerides (mg/dL)	125 (76.3)	97 (68.1)	0.0001

Case extraction was described in Restrepo et al. [34]. Control extraction from EAGLE BioVU was also described in Restrepo et al. [34] but restricted to controls > 40 years of age (as opposed to > 60 years of age here). Values were defined or calculated for the following: Age at POAG diagnosis was determined by the date of when the POAG billing code (ICD-9-CM 365.11) was first mentioned in the records. Age at last clinic visit (LCV) was taken as the date of the last current procedure terminology (CPT) code mentioned in the records for controls. An individual was classified as hypertensive if he/she met one of three criteria: systolic blood pressure > 140 mm/Hg, diastolic blood pressure > 90 mm/Hg, or on hypertension medications all within a 2-year window of when he or she was diagnosed with POAG for cases and a 2-year window of his or her LCV date for controls. Median (and standard deviation) blood pressure (systolic and diastolic), lipids (total cholesterol, high-density lipoprotein cholesterol or HDL-C, low-density lipoprotein cholesterol or LDL-C, and triglycerides), and body mass index (height and weight) were calculated from all labs or measurements available within 2 years of POAG diagnosis or LCV. T-tests and chi-square tests, where appropriate, were used to compare demographic clinical characteristics between cases and controls. Abbreviations: standard deviation (SD)

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