Genetic Analysis of Refractive Error and Related Biometric Traits

屈光不正及相关生物特征的遗传分析

• 批准号: 7384425
• 负责人: Alison P Klein
• 金额: $ 20.09万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2011-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7384425
• 关键词: Address; Adult; Age; Amblyopia; Applications Grants; Biology; Biometry; Blindness; Castor; Cataract; Choroidal Neovascularization; Clinical; Cohort Studies; Collaborations; Complex; Condition; Cornea; Data; Depth; Development; Disease; Environmental Risk Factor; Etiology; Eye; Eye diseases; Family; Family Study; Foundations; Genes; Genetic; Genetic Determinism; Genetic Risk; Genome; Genotype; Glaucoma; Goals; Human; Hyperopia; Image; Individual; Joints; Knowledge; Length; Maps; Measures; Microsatellite Repeats; Morphology; Myopia; Nuclear; Numbers; Operative Surgical Procedures; Optics; Persons; Population; Prevalence; Public Health; Refractive Errors; Reporting; Research Personnel; Resources; Retina; Retinal Detachment; Retinal Diseases; Risk; Risk Factors; SNP genotyping; Sclerosis; Sex Education; Strabismus; Strategic Planning; Study Subject; Thick; Variant; Vision; Vision research; Visual impairment; Visual system structure; Work; age related; anterior chamber; base; genetic analysis; genetic linkage analysis; genome wide association study; genome-wide linkage; improved; lens; macula; modifiable risk; prevent; segregation; therapy development; trait; visual process; visual processing

DESCRIPTION (provided by applicant): This goal of this proposal is to further examine the genetic basis of refraction and the underlying biometric determinants of refraction specifically axial length, lens thickness, corneal curvature and anterior chamber depth. This study will use data collected as part of the Beaver Dam Eye Study and builds on an ongoing collaboration to understand the genetic basis of age-related eye disease between Dr. Alison Klein, the Investigators of the Beaver Dam Eye Study (Drs. Barbara and Ronald Klein) and investigators at NHGRI (Dr. Bailey-Wilson). The primary objective of this study is to perform genome-wide quantitative trait linkage analysis of refraction, axial length, lens thickness, corneal curvature and anterior chamber depth using a combined microsatillite and SNP marker set. This work expands on our previous genome-wide linkage analysis of refraction as a quantitative trait in the Beaver Dam Eye Study using only microsatillite markers. For the complete Beaver Dam Eye Study family resource, genome-wide microsatillite marker genotypes from CIDR are currently available and genome-wide SNP genotyping of these data are currently underway at CIDR. First, extensive familial correlation analysis and commingling analysis for individual traits as well as for traits jointly, both before and after adjustment for additional factors including age, sex, education, nuclear sclerosis will be conducted. Segregation analysis may also be performed. Secondly, quantitative linkage analysis using a combined map (microsatillte and SNP) for refraction, axial length, lens thickness, corneal curvature and anterior chamber depth will be performed. We will also perform analysis of the joint effects of these traits. Given the influence of each of these biometric traits across the entire spectrum of refraction and that all of these traits are highly heritable; analysis of the genetic basis of these traits will help us understand the complex biology underlying the development of refractive errors. Additionally, examination of the genetics of refractive error and genetic basis of the underlying biometric determinants that influence refraction may not only improve our understanding of the biology of refraction but may also permit the development of interventions to alter the development of refractive errors reducing the need for corrective lens and corrective surgery.

描述(申请人提供)：这项建议的目标是进一步研究屈光的遗传基础和潜在的屈光生物测定决定因素，特别是眼轴长度、晶状体厚度、角膜曲率和前房深度。这项研究将使用作为Beaver Dam Eye研究的一部分收集的数据，并建立在Alison Klein博士、Beaver Dam Eye研究人员(Barbara博士和Ronald Klein博士)以及NHGRI研究人员(Bailey-Wilson博士)之间正在进行的了解年龄相关眼病遗传基础的合作基础上。这项研究的主要目的是利用Microsamllite和SNP相结合的标记集对屈光度、眼轴长度、晶状体厚度、角膜曲率和前房深度进行全基因组数量性状连锁分析。这项工作扩展了我们之前在河狸水坝眼研究中仅使用微透光石标记进行的作为数量性状的屈光的全基因组连锁分析。对于完整的Beaver Dam Eye Study家族资源，来自CIDR的全基因组微多功能石标记基因型目前可用，这些数据的全基因组SNP基因分型目前正在CIDR进行中。首先，在对年龄、性别、教育程度、核硬化等附加因素进行调整前后，对个体性状以及共同性状进行广泛的家族相关分析和混合分析。也可以进行偏析分析。其次，对屈光度、眼轴长度、晶状体厚度、角膜曲率和前房深度进行定量连锁分析。我们还将对这些特征的联合影响进行分析。考虑到这些生物特征在整个屈光范围内的影响，而且所有这些特征都是高度可遗传的；分析这些特征的遗传基础将有助于我们理解屈光不正发生的复杂生物学基础。此外，检查屈光不正的遗传学和影响屈光不正的潜在生物测定决定因素的遗传基础不仅可以提高我们对屈光不正生物学的理解，而且还可能允许开发干预措施来改变屈光不正的发展，减少矫正的需要 镜片和矫正手术。

项目成果

Current gene discovery strategies for ocular conditions.

• DOI: 10.1167/iovs.10-6989
• 发表时间: 2011-09
• 期刊: Investigative ophthalmology & visual science
• 影响因子: 4.4
• 作者: P. Duggal;G. Ibay;A. Klein