Genome-Wide Association Study of Age-Related Eye Diseases in Chinese Population
Chapter in an edited book (author)


摘要Since the first successful genome-wide association study (GWAS) reported in 2005 on mapping a disease gene – complement factor H (CFH) – for age-related macular degeneration (AMD), a large number of genetic loci for eye diseases have been identified by GWAS. The subsequent GWAS that again successfully identified an AMD gene on the HTRA1/ARMS2 locus happened to be started in Chinese study subjects. Technological advancements and availability of large sample sizes have contributed to gene mapping for many eye diseases. GWAS, with Chinese patients as the initialization study cohort, has detected new disease genes of complex eye diseases, including AMD, primary open-angle glaucoma (POAG), primary angle-closure glaucoma (PACG), myopia, diabetic retinopathy, and Vogt-Koyanagi-Harada syndrome. Multiple quantitative traits and endophenotypes, such as central corneal thickness, corneal curvature, astigmatism, anterior chamber depth, axial length, and intraocular pressure, have also been investigated by GWAS for gene identification. Results of replications and validations with cohorts of other ethnicities are consistent in association in some studies and different in statistical significance in others. Ethnic-specific sequence alterations are known in some candidate genes. Both similarities and differences exist in the patterns of sequence alterations and phenotype-genotype associations as reported in Chinese when compared with other ethnic groups, even among oriental populations. With the advent of GWAS and other high-throughput sequencing technologies, increasingly detailed genome information is obtained. There are increasing numbers of reported GWAS with Chinese as initial cohorts. With the collection of large amount of genome information, downstream gene function analysis and epigenetic studies are in process with a view to throw light on disease mechanisms through understanding the functions and properties of eye disease genes.
著者Chen LJ, Rong SS, Pang CP
編輯Gyan Prakash, Takeshi Iwata
書名Advances in Vision Research, Volume I: Genetic Eye Research in Asia and the Pacific
系列標題Essentials in Ophthalmology
頁次209 - 229

上次更新時間 2021-26-09 於 02:56