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

基本信息

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
项目类别：
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

项目摘要

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（由申请人提供）：本提案的目标是进一步检查屈光的遗传基础和屈光的潜在生物特征决定因素，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海狸坝眼科研究一部分收集的数据，并建立在海狸坝眼科研究的调查人员艾莉森·克莱因博士（芭芭拉博士和Ronald Klein）和 NHGRI 的研究人员（Bailey-Wilson 博士）。本研究的主要目的是使用组合的微卫星和 SNP 标记集对屈光、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仅使用微卫星标记将折射作为数量性状的全基因组连锁分析。对于完整的海狸坝眼研究家族资源，目前可以使用 CIDR 的全基因组微卫星标记基因型，并且 CIDR 目前正在对这些数据进行全基因组 SNP 基因分型。首先，将在调整年龄、性别、教育程度、核硬化等其他因素之前和之后，对个体特征以及共同特征进行广泛的家族相关分析和混合分析。还可以进行分离分析。其次，将使用屈光、眼轴长度、晶状体厚度、角膜曲率和前房深度的组合图（微卫星和SNP）进行定量关联分析。我们还将分析这些特征的联合效应。考虑到这些生物特征对整个屈光光谱的影响，并且所有这些特征都是高度遗传的；对这些特征的遗传基础的分析将有助于我们了解屈光不正发展背后的复杂生物学原理。此外，检查屈光不正的遗传学和影响屈光的潜在生物特征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，还可以允许开发干预措施来改变屈光不正的发展，从而减少对屈光不正的需要。矫正的晶状体和矫正手术。