July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
A Genome-Wide Association Study of Optic Disc Area in Latinos
Author Affiliations & Notes
  • Shizuka Tomatsu
    Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
  • Heejin Kim
    Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
  • Hua Huang
    Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
  • X. Raymond Gao
    Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, United States
  • Footnotes
    Commercial Relationships   Shizuka Tomatsu, None; Heejin Kim, None; Hua Huang, None; X. Raymond Gao, None
  • Footnotes
    Support  National Institutes of Health Grants R01EY022651, P30EY001792 (departmental core grant)
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 1816. doi:
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    • Get Citation

      Shizuka Tomatsu, Heejin Kim, Hua Huang, X. Raymond Gao; A Genome-Wide Association Study of Optic Disc Area in Latinos. Invest. Ophthalmol. Vis. Sci. 2018;59(9):1816.

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

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Abstract

Purpose : The disc area (DA) is an important optic disc parameter that is associated with glaucoma and myopia. A number of genetic loci are associated with DA in European and Asian populations. The genetics of DA in other ethnic groups, such as Latinos, remains undetermined. Here, we describe the first genome-wide association study (GWAS) of DA in Latinos.

Methods : We conducted this research using 2,464 Latinos available in the Mexican American Glaucoma Genetic Study. Study subjects were genotyped using either the Illumina OmniExpress BeadChip (~730k markers) or the Illumina Hispanic/SOL BeadChip (~2.5 million markers), and imputed based on the 1000 Genomes Project reference panels. All participants were 40 years of age or older. We assessed the association between single nucleotide polymorphisms (SNPs) and DA using linear regression and linear mixed-effects modeling, adjusted for age, gender, principal components of genetic ancestry, and kinship.

Results : We discovered fifteen novel SNPs associated with optic disc area, six of which were located in the novel genomic regions of HNRNPH3, RUFY2, and DNA2 (P < 5 × 10-8). In addition, 17 previously reported SNPs were replicated that also reached genome-wide significance. Our functional analysis indicated that all the novel genes are expressed in the human eye.

Conclusions : In this first GWAS of DA in Latinos, we identified three novel genomic regions associated with DA. Furthermore, many previously identified genetic variants in European and Asian populations are consistently associated with DA in our Latino dataset, indicating the transferability of DA genetic variants across different ethnic populations. These findings expanded our understanding of the genetic architecture of DA and demonstrated that including minority populations in GWAS can help identify additional loci.

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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