Heritability of optic disc diameters: a twin study

Dragana Drobnjak; Nina Charlotte Taarnhøj; Paul Mitchell; Jie J Wang; Ava Tan; Line Kessel; Jesper Hougaard; Thorkild I A Sørensen; Michael Larsen

doi:10.1111/j.1755-3768.2010.01923.x

Heritability of optic disc diameters: a twin study

Dragana Drobnjak, Nina Charlotte Taarnhøj, Paul Mitchell, Jie J Wang, Ava Tan, Line Kessel, Jesper Hougaard, Thorkild I A Sørensen, Michael Larsen

3 Citations (Scopus)

Abstract

Purpose: To assess the relative influence of genetic and environmental factors on optic disc size and cup/disc ratio in healthy eyes. Methods: A sample of 55 monozygotic and 50 dizygotic healthy twin pairs aged 20-46, all having the same sex within pairs (47 pairs were male) had optic discs measured from colour fundus photographs according to the Wisconsin Protocol. Structural equation modelling was used to estimate the relative contribution of genetic and environmental factors to the phenotype. Results: Disc dimensions did not vary significantly by age or sex. After adjusting for age and sex, additive genetic factors (i.e. heritability) explained 77% (95% CI: 65-85%) of variation of vertical disc diameters, whereas estimated unshared environmental effect was 23% (95% CI: 15-35%). For vertical cup diameters, heritability accounted for 70% (95% CI: 55-80%) and environmental factors 30% (95% CI: 20-45%). For cup/disc ratio, additive genetic and unshared environmental factors explained 66% (95% CI: 48-77%) and 34% (95% CI: 23-52%) of the variations, respectively. Discussion: In this healthy twin sample, we found that three quarters of the variations in vertical optic disc and optic cup diameters were attributable to genetic influence.

Original language	English
Journal	Acta Ophthamologica (Online)
Volume	89
Issue number	2
Pages (from-to)	e193-8
ISSN	1755-3768
DOIs	https://doi.org/10.1111/j.1755-3768.2010.01923.x
Publication status	Published - 1 Mar 2011

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title = "Heritability of optic disc diameters: a twin study",

abstract = "Purpose: To assess the relative influence of genetic and environmental factors on optic disc size and cup/disc ratio in healthy eyes. Methods: A sample of 55 monozygotic and 50 dizygotic healthy twin pairs aged 20-46, all having the same sex within pairs (47 pairs were male) had optic discs measured from colour fundus photographs according to the Wisconsin Protocol. Structural equation modelling was used to estimate the relative contribution of genetic and environmental factors to the phenotype. Results: Disc dimensions did not vary significantly by age or sex. After adjusting for age and sex, additive genetic factors (i.e. heritability) explained 77% (95% CI: 65-85%) of variation of vertical disc diameters, whereas estimated unshared environmental effect was 23% (95% CI: 15-35%). For vertical cup diameters, heritability accounted for 70% (95% CI: 55-80%) and environmental factors 30% (95% CI: 20-45%). For cup/disc ratio, additive genetic and unshared environmental factors explained 66% (95% CI: 48-77%) and 34% (95% CI: 23-52%) of the variations, respectively. Discussion: In this healthy twin sample, we found that three quarters of the variations in vertical optic disc and optic cup diameters were attributable to genetic influence.",

author = "Dragana Drobnjak and Taarnh{\o}j, {Nina Charlotte} and Paul Mitchell and Wang, {Jie J} and Ava Tan and Line Kessel and Jesper Hougaard and S{\o}rensen, {Thorkild I A} and Michael Larsen",

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TY - JOUR

T1 - Heritability of optic disc diameters: a twin study

AU - Drobnjak, Dragana

AU - Taarnhøj, Nina Charlotte

AU - Mitchell, Paul

AU - Wang, Jie J

AU - Tan, Ava

AU - Kessel, Line

AU - Hougaard, Jesper

AU - Sørensen, Thorkild I A

AU - Larsen, Michael

PY - 2011/3/1

Y1 - 2011/3/1

N2 - Purpose: To assess the relative influence of genetic and environmental factors on optic disc size and cup/disc ratio in healthy eyes. Methods: A sample of 55 monozygotic and 50 dizygotic healthy twin pairs aged 20-46, all having the same sex within pairs (47 pairs were male) had optic discs measured from colour fundus photographs according to the Wisconsin Protocol. Structural equation modelling was used to estimate the relative contribution of genetic and environmental factors to the phenotype. Results: Disc dimensions did not vary significantly by age or sex. After adjusting for age and sex, additive genetic factors (i.e. heritability) explained 77% (95% CI: 65-85%) of variation of vertical disc diameters, whereas estimated unshared environmental effect was 23% (95% CI: 15-35%). For vertical cup diameters, heritability accounted for 70% (95% CI: 55-80%) and environmental factors 30% (95% CI: 20-45%). For cup/disc ratio, additive genetic and unshared environmental factors explained 66% (95% CI: 48-77%) and 34% (95% CI: 23-52%) of the variations, respectively. Discussion: In this healthy twin sample, we found that three quarters of the variations in vertical optic disc and optic cup diameters were attributable to genetic influence.

AB - Purpose: To assess the relative influence of genetic and environmental factors on optic disc size and cup/disc ratio in healthy eyes. Methods: A sample of 55 monozygotic and 50 dizygotic healthy twin pairs aged 20-46, all having the same sex within pairs (47 pairs were male) had optic discs measured from colour fundus photographs according to the Wisconsin Protocol. Structural equation modelling was used to estimate the relative contribution of genetic and environmental factors to the phenotype. Results: Disc dimensions did not vary significantly by age or sex. After adjusting for age and sex, additive genetic factors (i.e. heritability) explained 77% (95% CI: 65-85%) of variation of vertical disc diameters, whereas estimated unshared environmental effect was 23% (95% CI: 15-35%). For vertical cup diameters, heritability accounted for 70% (95% CI: 55-80%) and environmental factors 30% (95% CI: 20-45%). For cup/disc ratio, additive genetic and unshared environmental factors explained 66% (95% CI: 48-77%) and 34% (95% CI: 23-52%) of the variations, respectively. Discussion: In this healthy twin sample, we found that three quarters of the variations in vertical optic disc and optic cup diameters were attributable to genetic influence.

U2 - 10.1111/j.1755-3768.2010.01923.x

DO - 10.1111/j.1755-3768.2010.01923.x

M3 - Journal article

C2 - 20636443

SN - 1755-375X

VL - 89

SP - e193-8

JO - Acta Ophthalmologica

JF - Acta Ophthalmologica

IS - 2

ER -

Heritability of optic disc diameters: a twin study

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