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Heritability of retinal phenotypes in a European population Tom Richart, MD, MSc Dept. of Genetic Epidemiology, UM Maastricht, NL Laboratory of Hypertension,

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Presentation on theme: "Heritability of retinal phenotypes in a European population Tom Richart, MD, MSc Dept. of Genetic Epidemiology, UM Maastricht, NL Laboratory of Hypertension,"— Presentation transcript:

1 Heritability of retinal phenotypes in a European population Tom Richart, MD, MSc Dept. of Genetic Epidemiology, UM Maastricht, NL Laboratory of Hypertension, KU Leuven, BE

2 Phenotype – genotype and phenotype – biomarker associations: focusing on arterial phenotypes, both micro- and macrovascular; Phenotype reproducibility is crucial for proper analyses; What is the heritability of arterial phenotypes in a general population? What are the genetic and environmental correlations for arterial phenotypes? Research questions Retina

3 The retinal phenotyping technique is non-invasive, easy and has good reproducibility; Analyses indicate retinal vessel caliber heritability around 0.30 and are in concordance with Beaver Dam study results; Further analyses are planned, assessing genetic and evironmental correlations with other vascular phenotypes. Key points Retina

4 Non-mydriatic retinal camera Retina Retina

5 Image post-processing Retina Retina

6 Retina Retina

7 A non-mydriatic approach is used, no need for dilating agents; Digital images are processed with validated software (ARIC study); Resulting phenotypes are: Central retinal arteriole (CRAE) and venule (CRVE) equivalents Arteriole-to-venule ratios (AVR) Phenotyping technique Retina

8 We assessed intra- and inter-observer reproducibility (100 readings); Intra-observer differences 10%; inter-observer differences 16%; Differences were due to randomness, no associations were found with participant characteristics (age, sex, BP, treatment for hypertension). Reproducibility Retina

9 Reproducibility of AVR Retina observer st - 2nd Reading observer st - 2nd Reading inter-observer st - 2nd Observer

10 SAGE software; ASSOC program; Models considered: Unadjusted; Adjusted for sex, age, BP, BMI and antihypertensive drugs. Heritability: methods Retina

11 167 pedigree members with complete information; 24 singletons with complete information; Age 46.7±7.6; 50.3% women; Pedigrees are rather small, adding more observations is necessary to make results more reliable. Heretability: population characteristics Retina

12 Heritability CharacteristicUnadjustedFully adjusted CRAE (PH) 0.33*- CRVE (PH) 0.18*- AVR (PH) 0.35*- ACCORD/BP Vitamin D Retina * p<0.001

13 The retinal phenotyping technique is non-invasive, easy and has good reproducibility; Analyses indicate retinal vessel caliber heritability around 0.30 and are in concordance with Beaver Dam study results; Further analyses are planned, assessing genetic and evironmental correlations with other vascular phenotypes. Key points Retina


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