International Collaborative Twin Study of Refractive and Glaucoma Endophenotypes

描述(申请人提供)：近视和青光眼是世界范围内高度流行的眼科疾病，对眼部疾病的发病率有很大影响。有大量证据表明，遗传因素在非综合征性近视和青光眼的发展中起着重要作用。我们建议对英国和澳大利亚特征良好的双胞胎人群进行图谱研究，以最终确定这些疾病的相关基因和相关的眼部参数。这将提供对这些疾病如何发展的基本分子理解，并可能导致定向的生理学(即药理学、基因治疗)干预。 公共卫生相关声明：该项目的目标是更好地了解眼病、近视和青光眼的遗传基础。实现这一目标需要合作努力和大样本。我们已经创建了一个由来自美国、澳大利亚和英国的大型互补双胞胎研究组成的国际合作。最先进的分子遗传学和统计工具将被用来使用链接和关联方法将遗传信息与临床信息相关联。这一努力可能会导致对这些潜在的致盲疾病的有效治疗。

DESCRIPTION (provided by applicant): Myopia and glaucoma are highly prevalent ophthalmic disorders worldwide, and contribute significantly to ocular morbidity. There is substantial evidence that genetic factors play a significant role in the development of non-syndromic myopia and glaucoma. We propose to perform mapping studies for well-characterized twin populations in the United Kingdom and Australia in order to ultimately identify implicated genes for these disorders, and related ocular parameters. This will provide a fundamental molecular understanding of how these disorders develop, and may lead to directed physiologic (i.e. pharmacologic, gene therapy) interventions. Public Health Relevance Statement: The goals of this project are to gain a greater understanding of the genetic basis of the eye disorders myopia and glaucoma. Achievement of this goal requires cooperative efforts and large sample sizes. We have created an international collaboration of large complementary twin studies, from the USA, Australia, and United Kingdom. State-of-the-art molecular genetics and statistical tools will be used to correlate genetic with clinical information using linkage and association approaches. This effort may lead to effective therapies for these potentially blinding disorders.