Evidence of shared genes in refraction and axial length: The Genes in Myopia (GEM) twin study
Evidence of shared genes in refraction and axial length: The Genes in Myopia (GEM) twin study
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DOI：
10.1167/iovs.07-1516
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发表时间：
2008-10-01
影响因子：
4.4
通讯作者：
Baird, Paul N.
中科院分区：
文献类型：
--
作者：
Dirani, Mohamed;Shekar, Sri N.;Baird, Paul N.
目的。眼轴长度被证明可以解释屈光度总方差的50%，其中眼轴长度和屈光度是主要的遗传成分。然而，还没有研究试图确定眼轴长度和屈光度之间的相关性是否由共同的遗传或环境因素来解释。方法：所有来自维多利亚的18岁或18岁以上的双胞胎都被邀请通过澳大利亚双胞胎注册中心(ATR)参与近视基因(GEM)双胞胎研究。结果：在GEM双胞胎研究中，共有612对(1224对)双胞胎进行了年龄从18岁到86岁的检查。眼轴长度与屈光度呈负相关(男性r=-0.64，女性r=-0.68；P<；0.01)。性别限制ADE(A，加性遗传；D，显性遗传；E，独特环境因素)模型对这两个指标都提供了最合适的遗传模型。在男性和女性的球面等效度差异中，大约50%是由于影响眼轴长度的遗传因素。结论从这些发现来看，眼轴长度和屈光度在病因上可能有共同的基因。GEM的双生子研究为进一步研究确定眼轴长度的基因(S)提供了基础和方向，这将最终提高我们对屈光不正，特别是近视的病因的理解。
PURPOSE. Axial length has been shown to explain up to 50% of the total variance in refraction, with axial length and refraction having a major genetic component. However, no study has attempted to determine whether the correlation between axial length and refraction is explained by shared genetic or environmental factors.METHODS. All twins from Victoria aged 18 years or older were invited to participate in the Genes in Myopia (GEM) twin study through the Australian Twin Registry (ATR). Each twin completed a general questionnaire and underwent dilated objective refraction assessment and measurement of axial length.RESULTS. A total of 612 twin pairs (1224 twins) aged from 18 to 86 years were examined in the GEM twin study. Axial length correlated negatively with refraction (r = -0.64 in the men, r = -0.68 in the women; P < 0.01). The sex limitation ADE (A, additive genetic; D, dominant genetic; E, unique environmental factors) model provided the best-fit genetic model for both measures. Of the variation in spherical equivalence in both the men and the women, approximately 50% were due to genetic factors influencing axial length.CONCLUSIONS. From these findings, it is likely that axial length and refraction share common genes in their etiology. The GEM twin study has provided a basis and direction for future research into identifying the gene(s) in axial length that will ultimately improve our understanding of the etiology of refractive error, particularly myopia.