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Genetics in Keratoconus: where are we?

Yelena Bykhovskaya1, Benjamin Margines2, Yaron S Rabinowitz3

  • 1Regenerative Medicine Institute and Department of Surgery, Cedars-Sinai Medical Center, Los Angeles, USA ; Cornea Genetic Eye Institute, 50 N. La Cienega Blvd. Suite #340, Beverly Hills, CA 90211 USA.

Eye and Vision (London, England)
|June 29, 2016
PubMed
Summary

Genetic research reveals key genes like LOX, RAB3GAP1, ZNF469, TGFBI, and COL5A1 contributing to keratoconus (KC) development. Advanced genomic studies are improving our understanding of this complex corneal condition.

Keywords:
Complex diseaseCorneal dystrophyGenetic associationGenetic variationGeneticsGenotypingKeratoconusLinkageSequencing

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Area of Science:

  • Ophthalmology
  • Genetics
  • Corneal Diseases

Background:

  • Keratoconus (KC) is a complex corneal disease with an unknown precise etiology.
  • While environmental factors play a role, a strong genetic susceptibility is evident.
  • Early genetic studies yielded inconsistent results, suggesting a complex and heterogeneous genetic basis for KC.

Purpose of the Study:

  • To elucidate the complex genetic underpinnings of keratoconus (KC).
  • To highlight advancements in genetic research methodologies for KC.
  • To identify specific genes and chromosomal regions associated with KC susceptibility.

Main Methods:

  • Genome-wide linkage studies (GWLS) and genome-wide association studies (GWAS).
  • Next-generation sequencing (NGS)-based genomic screens.
  • Quantitative endophenotype analysis.

Main Results:

  • GWLS identified the LOX gene, confirmed across multiple KC cohorts.
  • GWAS pinpointed a KC susceptibility region near the RAB3GAP1 gene at 2q21.3, which was replicated.
  • Rare variants in ZNF469 and TGFBI genes were repeatedly found in KC patients.
  • GWAS of central corneal thickness identified COL5A1 as a genetic determinant.

Conclusions:

  • Recent genetic studies have significantly advanced the understanding of KC etiology.
  • Comprehensive genetic tools like GWLS, GWAS, and NGS have increased reproducibility of findings.
  • The endophenotype approach is crucial for studying complex genetic diseases like KC.
  • Shared genetic determinants may exist between KC and other connective tissue disorders.