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老年女性双胞胎眼压的遗传度

Heritability of intraocular pressure in older female twins.

作者信息

Pärssinen Olavi, Era Pertti, Tolvanen Asko, Kaprio Jaakko, Koskenvuo Markku, Rantanen Taina

机构信息

Department of Ophthalmology, Central Hospital of Central Finland, Jyväskylä, Finland.

出版信息

Ophthalmology. 2007 Dec;114(12):2227-31. doi: 10.1016/j.ophtha.2007.03.011. Epub 2007 Jul 19.

Abstract

PURPOSE

To examine the heritability of intraocular pressure (IOP) among older women not diagnosed as having glaucoma.

DESIGN

Cross-sectional twin study.

PARTICIPANTS

94 monozygotic (MZ) and 96 dizygotic (DZ) female twin pairs aged 63-76 years and not diagnosed as having glaucoma.

METHODS

Intraocular pressure was measured using a noncontact tonometer. The contributions of genetic and environmental factors to individual differences in IOP were estimated by applying an independent pathway model to twin data.

MAIN OUTCOME MEASURES

Contribution of genetic and environmental effects to the variation in IOP among MZ and DZ twins.

RESULTS

Mean IOP of the study population was 14.1 mmHg (+/- standard deviation 3.1) with no differences observed neither between the MZ and the DZ individuals, nor between the left and the right eyes. The pair-wise correlations for IOP of the right eye were .61 in MZ and .25 in DZ and for the left eye .63 and .42. The phenotypic correlation between the left and the right eye IOP was high (r = 0.81), suggesting that they were indices of a single trait. Quantitative genetic modeling revealed that for both eyes 64% (95% confidence interval [CI], 53-71) of the variance in IOP was explained by additive genetic effects and 18% (95% CI, 11-27) by nonshared environmental factors in common. In addition, 18% (95% CI, 15-23) of the variance in IOP was explained by nonshared environmental factors specific to each eye.

CONCLUSIONS

Additive genetic influences explained most of the individual differences in IOP among older women not diagnosed as having glaucoma. Because elevated IOP is an important risk factor for glaucoma, genetic factors underlying IOP may have a significant role in determining the risk for glaucoma, a complex progressive disease leading to death of ganglion cells.

摘要

目的

研究未被诊断患有青光眼的老年女性眼内压(IOP)的遗传度。

设计

横断面双生子研究。

参与者

94对同卵(MZ)和96对异卵(DZ)女性双胞胎,年龄在63 - 76岁之间,未被诊断患有青光眼。

方法

使用非接触眼压计测量眼内压。通过将独立路径模型应用于双胞胎数据,估计遗传和环境因素对IOP个体差异的贡献。

主要观察指标

MZ和DZ双胞胎中遗传和环境效应对IOP变异的贡献。

结果

研究人群的平均IOP为14.1 mmHg(±标准差3.1),MZ和DZ个体之间以及左右眼之间均未观察到差异。右眼IOP的成对相关性在MZ中为0.61,在DZ中为0.25;左眼IOP的成对相关性分别为0.63和0.42。左右眼IOP之间的表型相关性较高(r = 0.81),表明它们是单一性状的指标。定量遗传模型显示,双眼IOP方差的64%(95%置信区间[CI],53 - 71)由加性遗传效应解释,18%(95% CI,11 - 27)由共同的非共享环境因素解释。此外,IOP方差的18%(95% CI,15 - 23)由每只眼睛特有的非共享环境因素解释。

结论

加性遗传影响解释了未被诊断患有青光眼的老年女性IOP个体差异的大部分。由于IOP升高是青光眼的重要危险因素,IOP潜在的遗传因素可能在确定青光眼风险方面发挥重要作用,青光眼是一种导致神经节细胞死亡的复杂渐进性疾病。

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