Zheng Yingfeng, Ge Jian, Huang Guofu, Zhang Jian, Liu Bin, Hur Yoon-Mi, He Mingguang
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4303-7. doi: 10.1167/iovs.08-1934. Epub 2008 May 23.
To assess the heritability of central corneal thickness (CCT) in Chinese children in a classic twin study.
Twins aged 8 to 16 years were recruited from the Guangzhou Twin Registry. Pachymetry data were obtained by one operator using the same imaging system. Zygosity was confirmed by genotyping with 16 polymorphic markers in all same-sex twin pairs. The CCT of the right eyes was chosen as the trait of interest in the analysis. Heritability was assessed by a general sex-limitation model, using Mx software (University of Richmond, Virginia).
Four hundred forty-nine twin pairs were available for data analyses, including 131 pairs of monozygotic boys (MZM), 44 pairs of dizygotic boys (DZM), 166 pairs of monozygotic girls (MZF), 31 pairs of dizygotic girls (DZF), and 77 pairs of opposite-sex dizygotic (OSDZ) twins. Twin correlations for CCT were 0.90 for MZM, 0.92 for MZF, 0.56 for DZM, 0.61 for DZF, and 0.44 for OSDZ twins. A sex-limitation model combining additive genetic and unique environmental factors produced the best fit for the data. Heritability estimates for CCT were 0.88 (95% confidence interval [CI]: 0.84-0.91) in the boys and 0.91 (95% CI: 0.89-0.93) in the girls. Unique environmental effects explained only 0.12 (95% CI: 0.09-0.16) and 0.09 (95% CI: 0.07-0.11) of the variance in CCT in the boys and the girls, respectively.
Additive genetic effects appear to be the major contributor to the variation of CCT in Chinese population. Heritability of CCT appears to be slightly greater in the girls than in the boys.
在一项经典双胞胎研究中评估中国儿童中央角膜厚度(CCT)的遗传度。
从广州双胞胎登记处招募8至16岁的双胞胎。由一名操作人员使用同一成像系统获取测厚数据。通过对所有同性双胞胎对中的16个多态性标记进行基因分型来确认合子性。分析中选取右眼的CCT作为感兴趣的性状。使用Mx软件(弗吉尼亚州里士满大学)通过一般性别限制模型评估遗传度。
449对双胞胎可用于数据分析,包括131对同卵双生子男孩(MZM)、44对异卵双生子男孩(DZM)、166对同卵双生子女孩(MZF)、31对异卵双生子女孩(DZF)以及77对异性异卵双生子(OSDZ)。MZM的CCT双胞胎相关性为0.90,MZF为0.92,DZM为0.56,DZF为0.61,OSDZ双胞胎为0.44。结合加性遗传和独特环境因素的性别限制模型对数据拟合最佳。男孩CCT的遗传度估计值为0.88(95%置信区间[CI]:0.84 - 0.91),女孩为0.91(95%CI:0.89 - 0.93)。独特环境效应分别仅解释了男孩和女孩CCT变异的0.12(95%CI:0.09 - 0.16)和0.09(95%CI:0.07 - 0.11)。
加性遗传效应似乎是中国人群中CCT变异的主要贡献因素。CCT的遗传度在女孩中似乎略高于男孩。