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Heritabilities of Ocular Biometrical Traits in Two Croatian Isolates with Extended Pedigrees

Veronique Vitart,¹ Goran Beni,² Caroline Hayward,¹ Jelena kunca Herman,² Jennifer Huffman,¹ Susan Campbell,¹ Kajo Buan,³ Lina Zgaga,⁴ Ivana Koli,⁴ Ozren Polaek,^4,5 Harry Campbell,⁵ Alan Wright,¹ Zoran Vatavuk,² and Igor Rudan^5,6

From the ¹MRC (Medical Research Council) Human Genetics Unit, IGMM (Institute of Genetics and Molecular Medicine), Edinburgh, Scotland, United Kingdom; the ²Department of Ophthalmology, Hospital Sestre Milosrdnice, Zagreb, Croatia; the ³Departmemt of Ophthalmology, Split University Hospital and School of Medicine, Split, Croatia; the ⁴Andrija Stampar School of Public Health, Zagreb University, Zagreb, Croatia; the ⁵Department of Public Health, University of Edinburgh, Edinburgh, Scotland, United Kingdom; and the ⁶Croatian Centre for Global Health, University of Split Medical School, Split, Croatia.

Corresponding author: Veronique Vitart, MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK; v.vitart{at}hgu.mrc.ac.uk.

Purpose. To assess the effects of body stature and years of education, in addition to age and sex, on six oculometric traits and to estimate the heritabilities of these quantitative traits in two Croatian cross-population studies.

Methods. Adult subjects living on the two Croatian islands of Vis and Korula were recruited for a large epidemiologic and genetic study that included eye biometry, keratometry, and autorefraction. Effects and heritabilities were estimated by using general linear mixed models for axial length (AL), anterior chamber depth (ACD), corneal curvature (CC), corneal thickness (CT), lens thickness (LT), and spherical equivalent refraction (SER). Both cohorts were genotyped with dense SNP arrays, allowing the use of kinship coefficients derived from genotypic data (realized kinship) rather than from pedigree information (expected kinship).

Results. Across cohorts, body mass index (BMI) did not consistently influence any of the ocular traits adjusted for age and/or sex, whereas height and years in education (YrEd) did, explaining up to an additional 5% of the variance (in CC). CT was the trait least influenced by covariates. Estimated heritabilities in Vis and Korula, respectively, were 84% and 52% for CC, 75% and 71% for CT, 37% and 32% for LT, 59% and 45% for ACD, 37% and 74% for AL, and 0% and 17% for SER.

Conclusions. While heritabilities of CT and CC seemed uniformly high across studies of Caucasian datasets, estimates for SER varied widely and were at the lower end of the spectrum of published observations in our study.