Glaucoma GWAS in Mass General Biobank

Mass General Brigham Biobank (formally known as Partners HealthCare Biobank) is a biorepository of samples from consented patients at Mass General Brigham^{40 (link)} (parent organization of Massachusetts General Hospital and Brigham and Women’s Hospital). In this study, cases were defined based on a diagnosis available on electronic health records, and controls were participants without a recorded diagnosis of glaucoma in their electronic health records. In total, 1,415 glaucoma cases and 18,632 controls were genotyped on an Illumina Multi-Ethnic Global Array (MEGA) (Illumina). Participants showing high rates of missingness or those deemed ancestry outliers from the European ancestry population were removed. Genetic variants with high missingness or extreme allele frequencies were removed before imputation using the HRCr1.1 reference panel (Michigan Imputation server)^{41 (link)}. Imputed genotype data in dosage format were used for the analysis. Glaucoma GWAS was conducted using PLINK v.2.00 with a logistic regression model adjusting for age, sex, genetic principal components and genotype batches^{42 (link)}.