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前房深度作为中国人群闭角型青光眼中间表型的遗传度:广州双胞胎眼研究

Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye Study.

作者信息

He Mingguang, Wang Dandan, Zheng Yingfeng, Zhang Jian, Yin Qiuxia, Huang Wenyong, Mackey David A, Foster Paul J

机构信息

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

出版信息

Invest Ophthalmol Vis Sci. 2008 Jan;49(1):81-6. doi: 10.1167/iovs.07-1052.

DOI:10.1167/iovs.07-1052
PMID:18172078
Abstract

PURPOSE

To assess the heritability of anterior chamber depth (ACD) and relative anterior chamber depth (ACD/axial length, rACD) in Chinese in a classic twin study.

METHODS

Twins aged 7 to 15 years living in two local districts were recruited from the Guangzhou Twin Registry. Anterior chamber depth and axial length were measured by partial coherence laser interferometry. Zygosity in all same-sex twin pairs was confirmed by genotyping with 16 polymorphic markers. The phenotypes of the right eyes were used in analysis. Heritability was assessed by structural variance component genetic modeling.

RESULTS

In total, 1126 twin participants were available for analysis, including 357 monozygotic (MZ) and 206 dizygotic (DZ) twin pairs. ACD increased with age (0.036 mm per year, P < 0.001) and 0.09 mm shallower in the girls than in the boys (P < 0.001). Age- and sex-adjusted intraclass correlation coefficients (ICCs) for ACD were 0.92 for the MZ and 0.50 for the DZ twins; those for rACD were 0.89 for the MZ and 0.52 for the DZ twins. The best-fitting model yielded 90.1% (95% CI: 88.2%-91.7%) of additive genetic and 9.9% (95% CI: 8.3%-11.8%) of unique environmental effects for ACD and 89.2% (95% CI: 87.1%-90.9%) of additive genetic and 10.8% (95% CI: 9.1%-12.9%) of unique environmental effects for rACD.

CONCLUSIONS

Additive genetic effects appear to be the major contributor to the variation of ACD and rACD in Chinese population. High heritability remained even when the data were corrected for the influence of myopia.

摘要

目的

在一项经典双胞胎研究中评估中国人前房深度(ACD)和相对前房深度(ACD/眼轴长度,rACD)的遗传力。

方法

从广州双胞胎登记处招募居住在两个当地地区的7至15岁双胞胎。通过部分相干激光干涉测量法测量前房深度和眼轴长度。所有同性双胞胎对的合子性通过使用16个多态性标记进行基因分型来确认。分析中使用右眼的表型。通过结构方差成分遗传模型评估遗传力。

结果

共有1126名双胞胎参与者可用于分析,包括357对同卵双胞胎(MZ)和206对异卵双胞胎(DZ)。ACD随年龄增加(每年0.036毫米,P<0.001),女孩比男孩浅0.09毫米(P<0.001)。MZ双胞胎的ACD年龄和性别调整后的组内相关系数(ICC)为0.92,DZ双胞胎为0.50;rACD的ICC,MZ双胞胎为0.89,DZ双胞胎为0.52。最佳拟合模型得出ACD的加性遗传效应为90.1%(95%CI:88.2%-91.7%),独特环境效应为9.9%(95%CI:8.3%-11.8%);rACD的加性遗传效应为89.2%(95%CI:87.1%-90.9%),独特环境效应为10.8%(95%CI:9.1%-12.9%)。

结论

加性遗传效应似乎是中国人群中ACD和rACD变异的主要贡献因素。即使对数据进行了近视影响校正,遗传力仍然很高。

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