Aschard, H; Kang, JH; Iglesias, AI; Hysi, P; Bailey, JNC; Khawaja, AP; Allingham, RR; ... Pasquale, LR; + view all Aschard, H; Kang, JH; Iglesias, AI; Hysi, P; Bailey, JNC; Khawaja, AP; Allingham, RR; Ashley-Koch, A; Lee, RK; Moroi, SE; Brilliant, MH; Wollstein, G; Schuman, JS; Fingert, JH; Budenz, DL; Realini, T; Gaasterland, T; Scott, WK; Singh, K; Sit, AJ; Igo, RP; Song, YE; Hark, L; Ritch, R; Rhee, DJ; Gulati, V; Haven, S; Vollrath, D; Zack, DJ; Medeiros, F; Weinreb, RN; Cheng, C-Y; Chasman, DI; Christen, WG; Pericak-Vance, MA; Liu, Y; Kraft, P; Richards, JE; Rosner, BA; Hauser, MA; Klaver, CCW; vanDuijn, CM; Haines, J; Wiggs, JL; Pasquale, LR; - view fewer (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.

	Spreadsheet Table 1.xlsx - Accepted Version Download (44kB)
	Spreadsheet Table 2V3.xlsx - Accepted Version Download (48kB)
Preview	Image Fig1_03252017.tiff - Accepted Version Download (18MB) | Preview
Preview	Image Fig 2_V8.tiff - Accepted Version Download (24MB) | Preview
Preview	Text Khawaja POAG-BP_rev3_clean_07182017.pdf - Accepted Version Download (789kB) | Preview
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.

Download activity - last month

Export as JSONCSVXML

Download activity - last 12 months

Export as CSVJSONXML

Downloads by country - last 12 months

Export as XMLJSONCSV

Archive Staff Only

View Item