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The Genetics of Keratoconus: A Review.

Publication ,  Journal Article
Wheeler, J; Hauser, MA; Afshari, NA; Allingham, RR; Liu, Y
Published in: Reprod Syst Sex Disord
June 3, 2012

Keratoconus is the most common ectatic disorder of the corneal. Genetic and environmental factors may contribute to its pathogenesis. The focus of this article is to summarize current research into the complex genetics of keratoconus. We discuss the evidence of genetic etiology including family-based linkage studies, twin studies, genetic mutations, and genome-wide association studies. The genes implicated potentially include VSX1, miR-184, DOCK9, SOD1, RAB3GAP1, and HGF. Besides the coding mutations, we also highlight the potential contribution of DNA copy number variants in the pathogenesis of keratoconus. Finally, we present future directions for genetic research in the understanding of the complex genetics of keratoconus and its clinical significance. As new functional, candidate genes for keratoconus are being discovered at a rapid pace, the molecular genetic mechanisms underlying keratoconus pathogenesis will advance our understanding of keratoconus and promote the development of a novel therapy.

Duke Scholars

Published In

Reprod Syst Sex Disord

DOI

ISSN

2161-038X

Publication Date

June 3, 2012

Issue

Suppl 6

Location

United States
 

Citation

APA
Chicago
ICMJE
MLA
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Wheeler, J., Hauser, M. A., Afshari, N. A., Allingham, R. R., & Liu, Y. (2012). The Genetics of Keratoconus: A Review. Reprod Syst Sex Disord, (Suppl 6). https://doi.org/10.4172/2161-038X.S6-001
Wheeler, Joshua, Michael A. Hauser, Natalie A. Afshari, R Rand Allingham, and Yutao Liu. “The Genetics of Keratoconus: A Review.Reprod Syst Sex Disord, no. Suppl 6 (June 3, 2012). https://doi.org/10.4172/2161-038X.S6-001.
Wheeler J, Hauser MA, Afshari NA, Allingham RR, Liu Y. The Genetics of Keratoconus: A Review. Reprod Syst Sex Disord. 2012 Jun 3;(Suppl 6).
Wheeler, Joshua, et al. “The Genetics of Keratoconus: A Review.Reprod Syst Sex Disord, no. Suppl 6, June 2012. Pubmed, doi:10.4172/2161-038X.S6-001.
Wheeler J, Hauser MA, Afshari NA, Allingham RR, Liu Y. The Genetics of Keratoconus: A Review. Reprod Syst Sex Disord. 2012 Jun 3;(Suppl 6).

Published In

Reprod Syst Sex Disord

DOI

ISSN

2161-038X

Publication Date

June 3, 2012

Issue

Suppl 6

Location

United States