Current gene discovery strategies for ocular conditions.
Current gene discovery strategies for ocular conditions.
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DOI：
10.1167/iovs.10-6989
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发表时间：
2011-09
影响因子：
4.4
通讯作者：
P. Duggal;G. Ibay;A. Klein
中科院分区：
文献类型：
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作者：
P. Duggal;G. Ibay;A. Klein
许多眼部疾病都是受遗传和环境因素影响的复杂特征。即使对于常见的眼部疾病，如屈光不正和青光眼，在疾病发展中遗传和非遗传因素的相对贡献也是广泛的。有些人患病，是因为他们遗传了一个单一的基因突变，而在其他人中，疾病反映了多种遗传和/或环境暴露的作用。遗传技术的最新进展极大地提高了我们识别潜在疾病的遗传变异的能力。在这篇综述中，我们讨论了如何确定是否有眼部表型的遗传成分，如果是这样，如何识别与该表型相关的易感基因。我们还回顾了识别大效应遗传变异的最佳方法（即，具有大的相对风险的那些）和较小影响的遗传变体（即，相对风险小的人）。最后，我们讨论下一代测序方法将如何改变当前的基因发现范式。图1概述了不同的遗传流行病学方法。图1.遗传流行病学方法概述。
Many eye diseases are complex traits influenced by both genetic and environmental factors. Even for the common ocular conditions, such as refractive errors and glaucoma, there is a wide spectrum in the relative contribution of genetic and nongenetic factors in the development of disease. Some individuals develop disease, because they have inherited a single genetic mutation, whereas in others, the disease reflects the action of multiple genetic and/or environmental exposures. Recent advances in genetic technology have greatly enhanced our ability to identify the genetic variants underlying disease. In this review, we discuss how to determine whether an ocular phenotype has genetic components and if so, how to identify susceptibility genes associated with that phenotype. We also review the best approaches for identifying genetic variants of large effect (i.e., those with large relative risk) and genetic variants of smaller effect (i.e., those with small relative risk). Finally, we discuss how next-generation sequencing approaches will change the current paradigm for gene discovery. Figure 1 outlines the different genetic epidemiology approaches. Figure 1. Overview of the genetic epidemiology approach.