July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Identifying Novel Genetic Loci associated with Primary Open-Angle Glaucoma
Author Affiliations & Notes
  • Sangbea Kim
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States
  • Zhihua Qi
    CNRC, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States
  • Yuhong Chen
    Department of Ophthalmology, Fudan University, Shanghai, China
  • Yumei Li
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States
  • Benjamin Jay Jay Frankfort
    Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, United States
  • Xing-Huai Sun
    Department of Ophthalmology, Fudan University, Shanghai, China
  • Jessica Cooke Bailey
    Department of Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, United States
  • Janey L Wiggs
    Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States
  • Yongtao Guan
    CNRC, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States
  • Rui Chen
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States
  • Footnotes
    Commercial Relationships   Sangbea Kim, None; Zhihua Qi, None; Yuhong Chen, None; Yumei Li, None; Benjamin Jay Frankfort, None; Xing-Huai Sun, None; Jessica Cooke Bailey, None; Janey Wiggs, None; Yongtao Guan, None; Rui Chen, None
  • Footnotes
    Support  This work is supported by a training fellowship from the Gulf Coast Consortia, on the NLM Training Program in Biomedical Informatics and Data Science T15 LM007093
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 5142. doi:
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    • Get Citation

      Sangbea Kim, Zhihua Qi, Yuhong Chen, Yumei Li, Benjamin Jay Jay Frankfort, Xing-Huai Sun, Jessica Cooke Bailey, Janey L Wiggs, Yongtao Guan, Rui Chen; Identifying Novel Genetic Loci associated with Primary Open-Angle Glaucoma. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5142.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Glaucoma is one of the most frequent causes of irreversible blindness caused by optic nerve degeneration. Currently, over 20 loci have been identified through multiple genome-wide association studies (GWAS). However, only about 10% of phenotypic variations can be explained by these loci combined, underscoring the need of further investigation of genetic risk factors of POAG.

Methods : In this study, we reanalyzed several previously published genome-wide association studies for POAG, including the Glaucoma Genes and Environment (GLAUGEN), National Eye Institute (NEI) Glaucoma Human Genetics Collaboration (NEIGHBOR), and the Chinese high tension open angle glaucoma study, using a combination of individual SNP and local haplotype sharing (LHS) methods. Candidate SNPs and loci are further validated by genotyping additional 1000 cases. Functional testing of selected candidate genes and loci is performed using animal model.

Results : In this study, we identified several recently reported POAG-associated loci such as TXNRD2, FOXC1, and FNDC3B indicating our approach is effective. More interestingly, more than 10 novel candidate loci were identified by either the single SNP test or the LHS method. Among them, GLIS3 and TRPM3 genes have been linked to congenital glaucoma but have not yet been associated with adult onset POAG. In addition, at least 3 candidate loci have been confirmed in our validation cohort.

Conclusions : Our study identifies a set of novel candidate POAG associated loci, some of which have been confirmed. Functional studies of these novel loci/gene will provide additional insights of the disease.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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