September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
A genome-wide association study of central corneal thickness in Latinos
Author Affiliations & Notes
  • Drew Nannini
    Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
  • Kristen Goulee
    Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
  • Mina Torres
    Ophthalmology, University of Southern California, Los Angeles, California, United States
  • Yii-Der Chen
    Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics and Medicine at Harbor-UCLA, Torrance, California, United States
  • Kent Taylor
    Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics and Medicine at Harbor-UCLA, Torrance, California, United States
  • James Gauderman
    Preventive Medicine, University of Southern California, Los Angeles, California, United States
  • Jerome I Rotter
    Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics and Medicine at Harbor-UCLA, Torrance, California, United States
  • Rohit Varma
    Ophthalmology, University of Southern California, Los Angeles, California, United States
  • Xiaoyi (Raymond) Gao
    Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
  • Footnotes
    Commercial Relationships   Drew Nannini, None; Kristen Goulee, None; Mina Torres, None; Yii-Der Chen, None; Kent Taylor, None; James Gauderman, None; Jerome Rotter, None; Rohit Varma, None; Xiaoyi (Raymond) Gao, None
  • Footnotes
    Support  NIH Grant R01EY022651, U10EY011753, Departmental Core Grant P30EY001792
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 4830. doi:
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      Drew Nannini, Kristen Goulee, Mina Torres, Yii-Der Chen, Kent Taylor, James Gauderman, Jerome I Rotter, Rohit Varma, Xiaoyi (Raymond) Gao; A genome-wide association study of central corneal thickness in Latinos. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4830.

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

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Abstract

Purpose : Central corneal thickness (CCT) has been identified as an important risk factor for keratoconus, brittle cornea syndrome, and primary open angle glaucoma. Previous genome-wide association studies (GWAS) of CCT were conducted mostly in European and Asian populations. We hypothesize that GWAS in minority populations may provide novel information for CCT genetics. As such, we carried out a larger sample size GWAS of CCT in Latinos.

Methods : We conducted a population-based GWAS for CCT using 3741 Latinos recruited in the Los Angeles Latino Eye Study (LALES). Study participants were genotyped using the Illumina OmniExpress BeadChip (~730K markers). All study participants were 40 years of age or older. We assessed the association between individual single nucleotide polymorphisms and CCT using linear regression in PLINK, adjusted for age, gender, and principal components of genetic ancestry. Additionally, we performed functional enrichment analyses using IPA.

Results : Compared to our previous report on CCT in Latinos using a smaller dataset (IOVS 2013 54:2435-43), we observed more significant results for rs3118515 (P = 6.16e-11) and rs3118520 (P = 6.64e-10) within RXRA-COL5A1 on chromosome 9, and rs9938149 (P = 8.75e-08) within ZNF469 on chromosome 16. We also observed candidate novel loci with biological and gene expression support when we used a less stringent significance threshold. Our functional analysis also indicated candidate novel pathways for CCT.

Conclusions : Our results signpost candidate novel loci for CCT. We are expanding our genotyping effort to the entire LALES cohort through the Mexican American Glaucoma Genetic Study (MAGGS) project. As our genotyping advances, we will have more power to detect additional association signals.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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