Journal article
Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis
European journal of human genetics : EJHG, Vol.25(11), pp.1261-1267
11/2017
DOI: 10.1038/ejhg.2017.136
PMCID: PMC5643970
PMID: 28853718
Abstract
Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP), while the relation between BP and POAG is controversial. The International Glaucoma Genetics Consortium (n=27 558), the International Consortium on Blood Pressure (n=69 395), and the National Eye Institute Glaucoma Human Genetics Collaboration Heritable Overall Operational Database (n=37 333), represent genome-wide data sets for IOP, BP traits and POAG, respectively. We formed genome-wide significant variant panels for IOP and diastolic BP and found a strong relation with POAG (odds ratio and 95% confidence interval: 1.18 (1.14-1.21), P=1.8 × 10 ) for the former trait but no association for the latter (P=0.93). Next, we used linkage disequilibrium (LD) score regression, to provide genome-wide estimates of correlation between traits without the need for additional phenotyping. We also compared our genome-wide estimate of heritability between IOP and BP to an estimate based solely on direct measures of these traits in the Erasmus Rucphen Family (ERF; n=2519) study using Sequential Oligogenic Linkage Analysis Routines (SOLAR). LD score regression revealed high genetic correlation between IOP and POAG (48.5%, P=2.1 × 10 ); however, genetic correlation between IOP and diastolic BP (P=0.86) and between diastolic BP and POAG (P=0.42) were negligible. Using SOLAR in the ERF study, we confirmed the minimal heritability between IOP and diastolic BP (P=0.63). Overall, IOP shares genetic basis with POAG, whereas BP has limited shared genetic correlation with IOP or POAG.
Details
- Title: Subtitle
- Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis
- Creators
- Hugues Aschard - Harvard Medical SchoolJae H Kang - Harvard Medical SchoolAdriana I Iglesias - Erasmus MCPirro Hysi - King's College LondonJessica N Cooke Bailey - Case Western Reserve UniversityAnthony P Khawaja - University of CambridgeR Rand Allingham - Duke UniversityAllison Ashley-Koch - Duke UniversityRichard K Lee - Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USASayoko E Moroi - University of Michigan–Ann ArborMurray H Brilliant - Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USAGadi Wollstein - NYU Langone HealthJoel S Schuman - NYU Langone HealthJohn H Fingert - University of Iowa, Ophthalmology and Visual SciencesDonald L Budenz - Department of Ophthalmology, University of North Carolina, Chapel Hill, NC, USATony Realini - Department of Ophthalmology, WVU Eye Institute, Morgantown, WV, USATerry Gaasterland - Scripps Genome Center, University of California at San Diego, San Diego, CA, USAWilliam K Scott - University of Miami HospitalKuldev Singh - Department of Ophthalmology, Stanford University, Palo Alto, CA, USAArthur J Sit - Department of Ophthalmology, Mayo Clinic, Rochester, MN, USARobert P Igo Jr - Case Western Reserve UniversityYeunjoo E Song - Case Western Reserve UniversityLisa Hark - Wills Eye Hospital, Glaucoma Research Center, Philadelphia, PA, USARobert Ritch - Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USADouglas J Rhee - Case Western Reserve UniversityVikas Gulati - University of Nebraska Medical CenterShane Haven - University of Nebraska Medical CenterDouglas Vollrath - Department of Genetics, Stanford University, Palo Alto, CA, USADonald J Zack - Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, MD, USAFelipe Medeiros - University of California, San DiegoChing Yu Cheng - National University of SingaporeRobert N Weinreb - University of California, San DiegoDaniel I Chasman - Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USAWilliam G Christen - Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USAMargaret A Pericak-Vance - Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USAYutao Liu - Department of Cellular Biology &Anatomy, Augusta University, Augusta, GA, USAPeter Kraft - Harvard Medical SchoolJulia E Richards - Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USABernard A Rosner - Brigham and Women's HospitalMichael A Hauser - Department of Medicine, Duke University Medical Center, Durham, NC, USACaroline C W Klaver - Erasmus MCCornelia M vanDuijn - Erasmus MCJonathan Haines - Case Western Reserve UniversityJaney L Wiggs - Harvard Medical SchoolLouis R Pasquale - Harvard Medical SchoolInternational Glaucoma Genetics Consortium
- Resource Type
- Journal article
- Publication Details
- European journal of human genetics : EJHG, Vol.25(11), pp.1261-1267
- Publisher
- England
- DOI
- 10.1038/ejhg.2017.136
- PMID
- 28853718
- PMCID
- PMC5643970
- ISSN
- 1018-4813
- eISSN
- 1476-5438
- Grant note
- S10 OD018164 / NIH HHS R01 EY015473 / NEI NIH HHS P30 EY014104 / NEI NIH HHS R01 EY023512 / NEI NIH HHS U01 HG004728 / NHGRI NIH HHS R01 EB015611 / NIBIB NIH HHS R01 EY022305 / NEI NIH HHS
- Language
- English
- Date published
- 11/2017
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9983979955302771
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