International Collaborative Twin Study of Refractive and Glaucoma Endophenotypes

描述（由申请人提供）：近视和青光眼是全球高度流行的眼科疾病，并显著导致眼部发病率。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。我们建议在英国和澳大利亚对特征良好的双胞胎人群进行定位研究，以最终确定这些疾病的相关基因和相关的眼部参数。这将提供这些疾病如何发展的基本分子理解，并可能导致定向生理（即药理学，基因治疗）干预。 公共卫生相关性声明：该项目的目标是更好地了解眼睛疾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规模的样本。我们已经创建了一个国际合作的大型互补双胞胎研究，来自美国，澳大利亚和英国。国家的最先进的分子遗传学和统计工具将被用来关联遗传与临床信息，使用连锁和关联的方法。这一努力可能会导致这些潜在的致盲性疾病的有效治疗。

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.