Year: 2012
Type: article
Abstract: As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide association studies on AL conducted in 1,860 Chinese adults, 929 Chinese children, and 2,155 Malay adults. We identified a genetic locus on chromosome 1q41 harboring the zinc-finger 11B pseudogene ZC3H11B showing genome-wide significant association with AL variation (rs4373767, β = -0.16 mm per minor allele, P(meta) =2.69 × 10(-10)). The minor C allele of rs4373767 was also observed to significantly associate with decreased susceptibility to high myopia (per-allele odds ratio (OR) =0.75, 95% CI: 0.68-0.84, P(meta) =4.38 × 10(-7)) in 1,118 highly myopic cases and 5,433 controls. ZC3H11B and two neighboring genes SLC30A10 and LYPLAL1 were expressed in the human neural retina, retinal pigment epithelium, and sclera. In an experimental myopia mouse model, we observed significant alterations to gene and protein expression in the retina and sclera of the unilateral induced myopic eyes for the murine genes ZC3H11A, SLC30A10, and LYPLAL1. This supports the likely role of genetic variants at chromosome 1q41 in influencing AL variation and high myopia.
Source: PLoS Genetics
Authors: Qiao Fan, Veluchamy A. Barathi, Ching-Yu Cheng, Xin Zhou, Akira Meguro, Isao Nakata, Chiea-Chuen Khor, Liang-Kee Goh, Yi-Ju Li, Wan'e Lim, Candice E. H. Ho, Felicia Hawthorne, Yingfeng Zheng, Daniel Chua, Hidetoshi Inoko, Kenji Yamashiro, Kyoko Ohno-Matsui, Keitaro Matsuo, Fumihiko Matsuda, Eranga Vithana, Mark Seielstad, Nobuhisa Mizuki, Roger W. Beuerman, E.-Shyong Tai, Nagahisa Yoshimura, Tin Aung, Terri L. Young, Tien-Yin Wong, Yik-Ying Teo, Seang-Mei Saw
Institutions: National University of Singapore, Singapore National Eye Center, Singapore Eye Research Institute, Yokohama City University, Inserm, Kyoto University, Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, Agency for Science, Technology and Research, Genome Institute of Singapore, Duke-NUS Medical School, National Cancer Centre Singapore, Duke University, Duke Medical Center, Tokai University, Tokyo Medical and Dental University, Aichi Cancer Center Research Institute, University of California, San Francisco, The University of Melbourne, Centre for Eye Research Australia
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,043
Funders: National Research Foundation, National University of Singapore, Singapore Eye Research Institute, Genome Institute of Singapore, National Institutes of Health, Medical Research Council, National Medical Research Council, Japan Society for the Promotion of Science, Biomedical Research Council, National Eye Institute
Awards: The diagnostic and therapeutic strategies for age-related macular degeneration and glaucoma targeting the amyloid b, Genome-wide association study of high myopia using multiple ethnic groups, G2746122734, Analysis of risk factors associated with non-response to infliximab treatment for Behcet's disease, G3612248377, G4823756130, Genetic association study of Behcet's disease in multiple ethnic groups, Genetic analysis of sarcoidosis in a multi-ethnic cohort, G5646142476, The molecular pathogenesis for age-related macular degeneration and establishment of novel treatment, G7232005456, Molecular Genetics of high Myopia
OpenAlex ID: W1992985671