Heritability of intraocular pressure: a classical twin study
Heritability of intraocular pressure: a classical twin study
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DOI：
10.1136/bjo.2007.133272
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发表时间：
2008-08-01
影响因子：
4.1
通讯作者：
Hammond, C. J.
中科院分区：
文献类型：
--
作者：
Carbonaro, F.;Andrew, T.;Hammond, C. J.
目的：通过进行经典的双胞胎研究来估计眼压(IOP)的遗传度，并确定不同仪器的使用是否影响眼压遗传度的计算。方法：双胞胎来自伦敦圣托马斯医院的双胞胎登记。用Goldmann压平眼压计(GAT)测量眼压。一组双胞胎的眼压也使用眼球反应分析仪(ORA；纽约布法罗的莱切特)和动态轮廓眼压计(DCT，Pascal；Swiss Microtech AG，瑞士港口)进行测量。我们使用遗传建模技术比较了单合子(MZ)和异卵(DZ)对眼压的协方差，以确定基因和环境对该人群眼压变化的相对贡献。结果：分析了422对双胞胎(211对MZ；211对DZ)的数据。GAT组平均眼压为15.4(SD 2.7)mm Hg(8.7~26.2 mm Hg)。对于GAT、DCT和ORA测量的眼压，MZ的相关性显著高于DZ(相关系数分别为：GAT：0.57：0.39，DCT：0.62：0.36，Goldmann相关ORA(IOPg)0.73：0.47)。模型显示GAT眼压的遗传度为0.62，个体环境因素解释了0.38的变异。结论：这项研究表明遗传效应在决定这一双胞胎群体的眼压中起着重要作用。眼压读数因使用的仪器不同而不同，这导致了不同的遗传力值；遗传因素分别解释了使用GAT、DCT和ORA IOPg的眼压变化的62%、63%和74%。环境因素决定了变异的其余部分。
Aims: To estimate the heritability of intraocular pressure (IOP) by performing a classical twin study and to determine whether the use of different instruments influences calculation of eye IOP heritability.Methods: Twin pairs were recruited to participate from the TwinsUK Adult Twin Registry at St. Thomas' Hospital London. IOP was measured using Goldmann applanation tonometry ( GAT). A subset of twins also had their IOP measured using the Ocular Response Analyser ( ORA; Reichert, Buffalo, NY) and the Dynamic Contour Tonometer (DCT, Pascal; Swiss Microtechnology AG, Port, Switzerland). We compared the covariance of IOP within monozygotic (MZ) and dizygotic (DZ) pairs using genetic modelling techniques to determine the relative contribution of genes and environment to the variation in IOP seen in this population.Results: Data for 422 twin pairs ( 211 MZ; 211 DZ) were analysed. The mean IOP for GAT was 15.4 (SD 2.7) mm Hg ( range: 8.7-26.2 mm Hg). The MZ correlations were significantly higher than DZ for IOP measured by GAT, DCT and ORA ( correlation coefficients: GAT: 0.57:0.39, DCT: 0.62:0.36, Goldmann-correlated ORA (IOPg) 0.73:0.47, for MZ: DZ twins, respectively). Modelling suggested heritability for GAT IOP of 0.62, with individual environmental factors accounting for 0.38 of the variation.Conclusion: This study demonstrated that genetic effects are important in determining IOP in this twin population. IOP readings differed depending upon the instrument used, and this resulted in different heritability values; genetic factors explained 62%, 63% and 74% of the variation in IOP using GAT, DCT and ORA IOPg, respectively. Environmental factors determined the remainder of the variation.