April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Replication Of Association And Linkage To The FCD2/TCF4 Locus On Chromosome 18 In Fuchs Endothelial Corneal Dystrophy
Author Affiliations & Notes
  • Mollie A. Minear
    Duke Center for Human Genetics, Durham, North Carolina
  • Yi-Ju Li
    Duke Center for Human Genetics, Durham, North Carolina
  • Jacqueline Rimmler
    Duke Center for Human Genetics, Durham, North Carolina
  • R. R. Allingham
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • S. A. Riazuddin
    Johns Hopkins School of Medicine, Wilmer Eye Institute, Baltimore, Maryland
  • Nicholas Katsanis
    Duke Center for Human Disease Modeling, Durham, North Carolina
  • John D. Gottsch
    Johns Hopkins School of Medicine, Wilmer Eye Institute, Baltimore, Maryland
  • Simon G. Gregory
    Duke Center for Human Genetics, Durham, North Carolina
  • Gordon K. Klintworth
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • Natalie A. Afshari
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • Footnotes
    Commercial Relationships  Mollie A. Minear, None; Yi-Ju Li, None; Jacqueline Rimmler, None; R. R. Allingham, None; S. A. Riazuddin, None; Nicholas Katsanis, None; John D. Gottsch, None; Simon G. Gregory, None; Gordon K. Klintworth, None; Natalie A. Afshari, None
  • Footnotes
    Support  NIH grants EY016514, EY016835, EY015543, EY019126, and EY013315; Research to Prevent Blindness
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1087. doi:
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      Mollie A. Minear, Yi-Ju Li, Jacqueline Rimmler, R. R. Allingham, S. A. Riazuddin, Nicholas Katsanis, John D. Gottsch, Simon G. Gregory, Gordon K. Klintworth, Natalie A. Afshari; Replication Of Association And Linkage To The FCD2/TCF4 Locus On Chromosome 18 In Fuchs Endothelial Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1087.

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Abstract

Purpose: : To investigate the association and linkage of a large cohort of patients with Fuchs endothelial corneal dystrophy to a previously reported FECD locus on chromosome 18.

Methods: : 450 FECD cases and 340 controls were ascertained in the cornea and glaucoma clinics at the Duke University Eye Center (DUEC). 64 families with at least two FECD patients per family were ascertained at the DUEC and the Wilmer Eye Institute at Johns Hopkins University. All affected subjects had a grade 2+ on the Krachmer scale. Logistic regression using sex as a covariate was used to test for association with rs613872 under dominant (DOM), additive (ADD), and recessive (REC) genetic models. We performed parametric and non-parametric two-point and multipoint linkage analyses. A Taqman allelic discrimination assay (Life Technologies) was used to genotype rs613872, and genome-wide SNP genotyping was performed using Illumina’s GoldenGate Linkage Panel IV and Infinium HumanLinkage-12 platforms.

Results: : There was significant association with rs613872 under all three genetic models: DOM P = 9.33x10-35, ADD P = 7.48x10-30, and REC P = 5.27x10-6. The strongest evidence for linkage was on chromosome 18 from 69.94 - 85.29 cM, with a peak multipoint HLOD score of 2.5 at rs1145315 under the DOM model. This peak marker is 1.5 Mb proximal to rs613872.

Conclusions: : Our findings replicate evidence of association and linkage to chromosome 18 for late-onset FECD in the largest FECD association and linkage datasets analyzed to date.

Keywords: cornea: endothelium • gene mapping • genetics 
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