Abstract:
PURPOSE:To estimate the relative importance of genes and environment in peripapillary atrophy type beta (beta-PPA) in a classic twin study. METHODS:Female twin pairs (n = 506) aged 49 to 79 years were recruited from the St. Thomas' UK Adult Twin Registry. Peripapillary atrophy was identified from masked grading of stereoscopic optic disc photographs. Structural equation modeling was performed using Mx with polychoric correlations of beta-PPA and refractive error (divided into deciles). RESULTS:Beta-PPA prevalence was 25.1% and did not vary with zygosity. Case-wise concordance for right eyes was 0.76 (95% CI, 0.57-0.88) for monozygotic (MZ) and 0.37 (95% CI, 0.15-0.56) for dizygotic (DZ) pairs. Multivariate modeling suggested additive genetic effects and individual environment, with no shared environment or dominant genetic effect. Beta-PPA heritability was 0.70 (95% CI, 0.54-0.83), and spherical equivalent 0.88 (95% CI, 0.85-0.91); age had no significant effect on variance. The genetic correlation between beta-PPA and spherical equivalent was -0.21. However, only 3% of the genetic variance of beta-PPA was explained by genetic factors in common with refractive error, with 67% explained by specific genetic factors for beta-PPA. Of the 30% of variance explained by unique environmental factors, only 3% was explained by these factors in common with environmental factors involved in refractive error. CONCLUSIONS:The presence of beta-PPA, a frequent ocular finding known to be associated with open-angle glaucoma, appears to be under strong genetic control, with only a small amount of this genetic effect shared with genes involved in myopia.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Healey PR,Mitchell P,Gilbert CE,Lee AJ,Ge D,Snieder H,Spector TD,Hammond CJdoi
10.1167/iovs.06-0714subject
Has Abstractpub_date
2007-06-01 00:00:00pages
2529-34issue
6eissn
0146-0404issn
1552-5783pii
48/6/2529journal_volume
48pub_type
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