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: 7207922
• 负责人: Alison P Klein
• 金额: $ 20.48万
• 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 2009-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7207922
• 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（由申请人提供）：该提案的这个目标是进一步检查折射的遗传基础和折射的潜在生物识别决定因素，特异性轴向长度，镜头厚度，角膜曲率和前腔室深度。这项研究将使用收集的数据作为Beaver Dam Eye研究的一部分，并以持续的合作为基础，以了解Beaver Dam Eye研究（Barbara和Ronald Klein博士）和NHGRI的研究人员Alison Klein博士之间与年龄相关的眼病的遗传基础。这项研究的主要目的是使用合并的微疗程和SNP标记集对折射，轴向长度，镜头厚度，角膜曲率和前腔深度进行折射，镜头厚度，角膜曲率和前腔深度进行全基因组定量性状连锁分析。这项工作扩展了我们以前全基因组折射的连锁分析，作为仅使用微疗程标记的Beaver Dam Eye研究中的定量特征。对于完整的Beaver Dam Eye研究家族资源，目前可提供来自CIDR的全基因组微疗程标记基因型，并且目前在CIDR正在进行这些数据的全基因组SNP基因分型。首先，将对包括年龄，性别，教育，核硬化症在内的其他因素进行调整之前和之后，针对各个性状以及共同特征的广泛家族相关分析和混合分析。也可以进行隔离分析。其次，将执行使用组合图（微疗中心和SNP）进行折射，轴向长度，镜头厚度，角膜曲率和前室深度的定量链接分析。我们还将对这些特征的关节作用进行分析。鉴于这些生物特征在整个折射范围内都具有影响，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折射率发展的基础的复杂生物学。此外，检查影响折射的基础生物识别决定因素的折射误差和遗传基础的遗传学的检查不仅可以提高我们对折射生物学的理解，还可以允许发展干预措施，以改变折射误差的发展，从而减少纠正措施的需求 镜头和矫正手术。