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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

Publication ,  Journal Article
Afshari, NA; Igo, RP; Morris, NJ; Stambolian, D; Sharma, S; Pulagam, VL; Dunn, S; Stamler, JF; Truitt, BJ; Rimmler, J; Kuot, A; Croasdale, CR ...
Published in: Nat Commun
March 30, 2017

The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10-8): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114. We also observe an overwhelming effect of the established TCF4 locus. Interestingly, we detect differential sex-specific association at LAMC1, with greater risk in women, and TCF4, with greater risk in men. Combining GWAS results with biological evidence we expand the knowledge of common FECD loci from one to four, and provide a deeper understanding of the underlying pathogenic basis of FECD.

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Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

March 30, 2017

Volume

8

Start / End Page

14898

Location

England

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • ROC Curve
  • Humans
  • Genome-Wide Association Study
  • Genetic Loci
  • Fuchs' Endothelial Dystrophy
 

Citation

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Afshari, N. A., Igo, R. P., Morris, N. J., Stambolian, D., Sharma, S., Pulagam, V. L., … Iyengar, S. K. (2017). Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat Commun, 8, 14898. https://doi.org/10.1038/ncomms14898
Afshari, Natalie A., Robert P. Igo, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V Lakshmi Pulagam, Steven Dunn, et al. “Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.Nat Commun 8 (March 30, 2017): 14898. https://doi.org/10.1038/ncomms14898.
Afshari NA, Igo RP, Morris NJ, Stambolian D, Sharma S, Pulagam VL, et al. Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat Commun. 2017 Mar 30;8:14898.
Afshari, Natalie A., et al. “Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.Nat Commun, vol. 8, Mar. 2017, p. 14898. Pubmed, doi:10.1038/ncomms14898.
Afshari NA, Igo RP, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li Y-J, Iyengar SK. Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat Commun. 2017 Mar 30;8:14898.

Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

March 30, 2017

Volume

8

Start / End Page

14898

Location

England

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • ROC Curve
  • Humans
  • Genome-Wide Association Study
  • Genetic Loci
  • Fuchs' Endothelial Dystrophy