Association of mitochondrial haplogroups H and R with keratoconus in Saudi Arabian patients

Invest Ophthalmol Vis Sci. 2014 May 1;55(5):2827-31. doi: 10.1167/iovs.14-14300.


Purpose: Keratoconic corneas exhibit more mitochondrial DNA (mtDNA) damage than do normal corneas and thus mtDNA may represent a potential candidate for genetic susceptibility studies in keratoconus. To test this hypothesis we determined mitochondrial haplogroups in Saudi patients with keratoconus and healthy controls of same ethnicity.

Methods: Mitochondrial haplogrouping was performed by polymerase chain reaction-based automated Sanger sequencing in 114 patients with keratoconus and 552 healthy controls.

Results: Mitochondrial haplogroups H and R were significantly overrepresented in patients with keratoconus (28.9% vs. 8.5%, P < 0.0001 and 17.5% vs. 3.1%, P < 0.0001, respectively) as compared to healthy controls.

Conclusions: Our data suggest that individuals with mitochondrial haplogroups H and R are at increased risk to develop keratoconus. In addition, the results provide further evidence for a plausible role of mtDNA in keratoconus etiology.

Keywords: Arabs; cornea; genetics; haplogroup; keratoconus; mitochondria.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Cohort Studies
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Haplotypes*
  • Humans
  • Keratoconus / ethnology
  • Keratoconus / genetics*
  • Male
  • Mitochondria / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Saudi Arabia


  • DNA, Mitochondrial