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Title: Integrating Population Genomics and Medical Genetics for Understanding the Genetic Aetiology of Eye Traits
Authors: FAN QIAO
Keywords: refractive error, GWAS, meta-analysis, 1q41, PDGFRA, recombination variation
Issue Date: 18-Oct-2012
Citation: FAN QIAO (2012-10-18). Integrating Population Genomics and Medical Genetics for Understanding the Genetic Aetiology of Eye Traits. ScholarBank@NUS Repository.
Abstract: Refractive errors are complex ocular disorders, as the underlying causes are both genetic and environmental in origin. The need for continued research into the genetic aetiology of refractive errors is considerable, especially considering a mismatch between high heritability in twin studies and the paucity of evidence for associated genetic variation. This thesis seeks to address the potential roles of genetic factors involved in refractive errors. Through a meta-analysis of three genome-wide association scans on ocular biometry of axial length in Asians, we have determined that a genetic locus on chromosome 1q41 is associated with axial length and high myopia. The meta-analysis in five genome-wide association studies in Asians has also revealed that genetic variants on chromosome 4q12 are associated with corneal astigmatism, exhibiting strong and consistent effects over Chinese, Malays and Indians. The recombination variations between populations have been quantified to provide the insight into the transferability of genetic risk loci across different populations.
Appears in Collections:Ph.D Theses (Open)

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