UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis

Aschard, H; Kang, JH; Iglesias, AI; Hysi, P; Bailey, JNC; Khawaja, AP; Allingham, RR; ... Pasquale, LR; + view all (2017) Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis. European Journal of Human Genetics volume , 25 (11) pp. 1261-1267. 10.1038/ejhg.2017.136. Green open access

[thumbnail of Table 1.xlsx] Spreadsheet
Table 1.xlsx - Accepted version

Download (44kB)
[thumbnail of Table 2V3.xlsx] Spreadsheet
Table 2V3.xlsx - Accepted version

Download (48kB)
[thumbnail of Fig1_03252017.tiff]
Preview
Image
Fig1_03252017.tiff - Accepted version

Download (18MB) | Preview
[thumbnail of Fig 2_V8.tiff]
Preview
Image
Fig 2_V8.tiff - Accepted version

Download (24MB) | Preview
[thumbnail of Khawaja POAG-BP_rev3_clean_07182017.pdf]
Preview
Text
Khawaja POAG-BP_rev3_clean_07182017.pdf - Accepted version

Download (789kB) | Preview
[thumbnail of Khawaja Supplement_IOP_BP-POAG_06212017.pdf]
Preview
Text
Khawaja Supplement_IOP_BP-POAG_06212017.pdf - Accepted version

Download (664kB) | Preview

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 × 10−27) 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 × 10−5); 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.

Type: Article
Title: Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ejhg.2017.136
Publisher version: https://doi.org/10.1038/ejhg.2017.136
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, GENOME-WIDE ASSOCIATION, OCULAR PERFUSION-PRESSURE, TRAIT LINKAGE ANALYSIS, RISK-FACTORS, SUSCEPTIBILITY LOCI, CORNEAL THICKNESS, COMMON VARIANTS, METAANALYSIS, HERITABILITY, DEGENERATION
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
URI: https://discovery.ucl.ac.uk/id/eprint/10051294
Downloads since deposit
101Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item