Article
Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies.
Investigative ophthalmology & visual science - 28 Jun 2012
Bykhovskaya Yelena, Li Xiaohui, Epifantseva Irina, Haritunians Talin, Siscovick David, Aldave Anthony, Szczotka-Flynn Loretta, Iyengar Sudha K, Taylor Kent D, Rotter Jerome I, Rabinowitz Yaron S
Abstract excerpt
PURPOSE: Keratoconus is a bilateral noninflammatory progressive corneal disorder with complex genetic inheritance and a common cause for cornea transplantation in young adults. A genomewide linkage scan in keratoconus families identified a locus at 5q23.2, overlapping the gene coding for the lysyl oxidase (LOX). LOX encodes an enzyme responsible for collagen cross-linking in a variety of tissues including the...
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