Toth Georgina Zsofia, Racz Adel, Tarnoki Adam Domonkos, Tarnoki David Laszlo, Szekelyhidi Zita, Littvay Levente, Suveges Ildiko, Nemeth Janos, Nagy Zoltan Zsolt
Department of Ophthalmology,Semmelweis University,Budapest,Hungary.
Department of Radiology and Oncotherapy,Semmelweis University,Budapest,Hungary.
Twin Res Hum Genet. 2014 Oct;17(5):397-404. doi: 10.1017/thg.2014.54.
Few, and inconsistent, studies have showed high heritability of some parameters of the anterior segment of the eye; however, no heritability of anterior chamber volume (ACV) has been reported, and no study has been performed to investigate the correlation between the ACV and central corneal thickness (CCT).
Anterior segment measurements (Pentacam, Oculus) were obtained from 220 eyes of 110 adult Hungarian twins (41 monozygotic and 14 same-sex dizygotic pairs; 80% women; age 48.6 ± 15.5 years) obtained from the Hungarian Twin Registry.
Age- and sex-adjusted heritability of ACV was 85% (bootstrapped 95% confidence interval; CI: 69% to 93%), and 88% for CCT (CI: 79% to 95%). Common environmental effects had no influence, and unshared environmental factors were responsible for 12% and 15% of the variance, respectively. The correlation between ACV and CCT was negative and significant (r ph = -0.35, p < .05), and genetic factors accounted for the covariance significantly (0.934; CI: 0.418, 1.061) based on the bivariate Cholesky decomposition model.
These findings support the high heritability of ACV and central corneal thickness, and a strong genetic covariance between them, which underscores the importance of identification of the specific genetic factors and the family risk-based screening of disorders related to these variables, such as open-angle and also angle closure glaucoma and corneal endothelial alterations.
少数且结果不一致的研究表明眼部前段某些参数具有较高的遗传度;然而,尚未有关于前房容积(ACV)遗传度的报道,也未开展研究调查ACV与中央角膜厚度(CCT)之间的相关性。
从匈牙利双胞胎登记处获取了110名成年匈牙利双胞胎(41对同卵双胞胎和14对同性异卵双胞胎;80%为女性;年龄48.6±15.5岁)的220只眼睛的前段测量数据(Pentacam,Oculus)。
经年龄和性别调整后,ACV的遗传度为85%(自抽样95%置信区间;CI:69%至93%),CCT的遗传度为88%(CI:79%至95%)。共同环境因素无影响,非共享环境因素分别导致12%和15%的变异。ACV与CCT之间的相关性为负且具有显著性(r ph = -0.35,p <.05),基于双变量Cholesky分解模型,遗传因素对协方差有显著影响(0.934;CI:0.418,1.061)。
这些发现支持ACV和中央角膜厚度具有较高的遗传度,以及它们之间存在很强的遗传协方差,这凸显了识别特定遗传因素以及基于家族风险对与这些变量相关的疾病(如开角型和闭角型青光眼以及角膜内皮改变)进行筛查的重要性。