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A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.
Choquet, Hélène; Thai, Khanh K; Yin, Jie; Hoffmann, Thomas J; Kvale, Mark N; Banda, Yambazi; Schaefer, Catherine; Risch, Neil; Nair, K Saidas; Melles, Ronald; Jorgenson, Eric.
Affiliation
  • Choquet H; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, 94612, USA. Helene.Choquet@kp.org.
  • Thai KK; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, 94612, USA.
  • Yin J; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, 94612, USA.
  • Hoffmann TJ; Institute for Human Genetics, University of California San Francisco (UCSF), San Francisco, CA, 94143, USA.
  • Kvale MN; Department of Epidemiology and Biostatistics, UCSF, San Francisco, CA, 94158, USA.
  • Banda Y; Institute for Human Genetics, University of California San Francisco (UCSF), San Francisco, CA, 94143, USA.
  • Schaefer C; Institute for Human Genetics, University of California San Francisco (UCSF), San Francisco, CA, 94143, USA.
  • Risch N; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, 94612, USA.
  • Nair KS; Kaiser Permanente Northern California (KPNC), Division of Research, Oakland, CA, 94612, USA.
  • Melles R; Institute for Human Genetics, University of California San Francisco (UCSF), San Francisco, CA, 94143, USA.
  • Jorgenson E; Department of Epidemiology and Biostatistics, UCSF, San Francisco, CA, 94158, USA.
Nat Commun ; 8(1): 2108, 2017 12 13.
Article in En | MEDLINE | ID: mdl-29235454
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability. Here, we conduct a genome-wide association study of IOP in 69,756 untreated individuals of European, Latino, Asian, and African ancestry. Multiple longitudinal IOP measurements were collected through electronic health records and, in total, 356,987 measurements were included. We identify 47 genome-wide significant IOP-associated loci (P < 5 × 10-8); of the 40 novel loci, 14 replicate at Bonferroni significance in an external genome-wide association study analysis of 37,930 individuals of European and Asian descent. We further examine their effect on the risk of glaucoma within our discovery sample. Using longitudinal IOP measurements from electronic health records improves our power to identify new variants, which together explain 3.7% of IOP variation.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glaucoma / Genetic Predisposition to Disease / Genome-Wide Association Study / Genetic Loci / Intraocular Pressure Type of study: Prognostic_studies / Risk_factors_studies Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2017 Document type: Article Affiliation country: United States Country of publication: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glaucoma / Genetic Predisposition to Disease / Genome-Wide Association Study / Genetic Loci / Intraocular Pressure Type of study: Prognostic_studies / Risk_factors_studies Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2017 Document type: Article Affiliation country: United States Country of publication: United kingdom