The heritability of optic disc parameters: A classic twin study
The heritability of optic disc parameters: A classic twin study
复制标题
DOI：
10.1167/iovs.07-0962
复制
发表时间：
2008-01-01
影响因子：
4.4
通讯作者：
Hammond, Christopher J.
中科院分区：
文献类型：
--
作者：
Healey, Paul;Carbonaro, Francis;Hammond, Christopher J.
目的。在一个经典的双胞胎研究中，研究遗传和环境因素在视盘中的作用。研究人员从伦敦圣托马斯医院的英国成年双胞胎登记处招募了560对双胞胎。我们获得了视盘的照片，比较了同卵（MZ）和异卵（DZ）对视盘、杯部和边缘区域的协方差，并利用遗传建模技术确定了基因和环境对该种群视盘参数变异的相对贡献。平均视盘、杯和边缘面积分别为2.62（范围1.06-4.87）、0.98（范围0.25-4.72）和1.64（范围1.43-6.16）mm(2)。MZ和DZ的相关系数分别为0.73/0.81和0.41/0.50。光学圈的相关性在MZ组（0.62）高于DZ组（0.43）。模型显示视盘面积的遗传率为0.73，视杯面积的遗传率为0.66。边缘面积的遗传力较低，为0.34，显著的共享环境分量为0.27，个体因素（包括测量误差）解释了39%的边缘面积方差。这项研究表明，遗传效应在决定这对双胞胎群体的视盘参数中很重要，遗传因素分别解释了73%、66%和34%的视盘、杯和边缘面积的变化。环境因素似乎也很重要。
PURPOSE. To examine the roles of genetic and environmental factors in the optic disc in a classic twin study.METHODS. Five hundred six pairs of twins were recruited to participate from the Twins U. K. Adult Twin Registry at St. Thomas' Hospital, London. Photographs of the optic disc were obtained, and the covariance of optic disc, cup, and rim areas within monozygotic (MZ) and dizygotic (DZ) pairs was compared, and genetic modeling techniques were used to determine the relative contributions of genes and environment to the variation in optic disc parameters in this population.RESULTS. Mean optic disc, cup, and rim areas were 2.62 (range, 1.06-4.87), 0.98 (range, 0.25-4.72), and 1.64 (range, 1.43-6.16) mm(2), respectively. The MZ correlations were higher than those of DZ pairs for disc and cup areas (correlation coefficient, 0.73/0.81 and 0.41/0.50 for MZ and DZ twins, respectively). The correlation for optic rim was also higher in MZ (0.62) than in DZ (0.43) pairs. Modeling suggested heritability for the optic disc area of 0.73 and for the optic cup area of 0.66. The heritability of the rim area was lower at 0.34, with a significant shared environmental component of 0.27 and individual factors (including measurement error) explaining 39% of the variance of the rim area.CONCLUSIONS. This study has demonstrated that genetic effects were important in the determination of optic disc parameters in this twin population, with genetic factors explaining 73%, 66%, and 34% of the variation of optic disc, cup, and rim areas, respectively. Environmental factors also seemed to be important.