June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Chromosome 11p is Significantly Linked to Myopia in Caucasian Families
Author Affiliations & Notes
  • Anthony Musolf
    National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States
  • Claire L Simpson
    Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee, United States
  • Bilal A. Moiz
    National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States
  • Kyle A. Long
    National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States
  • Deyana D. Lewis
    National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States
  • Candace D. Middlebrooks
    National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States
  • Laura Portas
    Institute of Population Genetics, Sassari, Italy
  • Federico Murgia
    Institute of Population Genetics, Sassari, Italy
  • Elise B Ciner
    Salus University, Elkins Park, Pennsylvania, United States
  • Dwight Stambolian
    Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Joan E Bailey-Wilson
    National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States
  • Footnotes
    Commercial Relationships   Anthony Musolf, None; Claire Simpson, None; Bilal Moiz, None; Kyle Long, None; Deyana Lewis, None; Candace Middlebrooks, None; Laura Portas, None; Federico Murgia, None; Elise Ciner, None; Dwight Stambolian, None; Joan Bailey-Wilson, None
  • Footnotes
    Support  NIH/NGHRI Intramural Research Program, R01EY020483
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 182. doi:
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    • Get Citation

      Anthony Musolf, Claire L Simpson, Bilal A. Moiz, Kyle A. Long, Deyana D. Lewis, Candace D. Middlebrooks, Laura Portas, Federico Murgia, Elise B Ciner, Dwight Stambolian, Joan E Bailey-Wilson; Chromosome 11p is Significantly Linked to Myopia in Caucasian Families. Invest. Ophthalmol. Vis. Sci. 2017;58(8):182.

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

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Abstract

Purpose : Myopia is one of the most common forms of visual impairment in the United States, with nearly one in four Americans affected. The genetics involved in myopia have yet to be completely understood. This study uses Caucasian families with a history of myopia to find linkage between the disease and variants in the genome.

Methods : Our sample data consisted of 56 Caucasian families with a history of myopia. Individuals were genotyped on the Illumina Exome Array and merged with previously obtained microsatellite data. Individuals were coded as either affected with myopia, unaffected, or unknown. Three types of parametric linkage analyses were performed: standard single variant two-point linkage, multipoint linkage, and collapsed haplotype pattern variant linkage (CHP). CHP linkage involves creating a multi-allelic pseudomarker from multiple single variants to boost information content. Two-point linkage is then run on the pseudomarker, which corresponds to a genetic region. Family-based association analyses using rare and common variants are underway.

Results : Single variant two-point analysis revealed three genome-wide significant SNPs (HLOD >= 3.3) located at 11p15.4, 11p15.1, and 11p11.2. An additional 47 suggestive SNPs were also found in the 11p region. CHP linkage analysis identified three suggestive variants on 11p and multipoint analysis identified two suggestive variants. 11p is an excellent candidate region for myopia, as linkage has previously been reported there for myopia (MYP7) at 11p13 and it contains several interesting genes. Our highest overall SNP is located in an antisense RNA to BBOX1. Two other highly suggestive SNPs were located in antisense RNA to BDNF which is known to have retinal healing properties. These two SNPs were particularly strong in one family (LOD score > 1). The most interesting exonic SNPs occurred in PTPRJ, one of which was predicted damaging. While PTPRJ has not been implicated in myopia, other protein tyrosine phosphatases have been.

Conclusions : We have identified a genome-wide significant linkage peak on 11p for myopia in Caucasian families. The region contains a large number of quality candidate genes, and we plan targeted sequencing on the region to further narrow down the causal variant(s).

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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