Association of mitochondrial haplogroups H and R with keratoconus in Saudi Arabian patients.
OBJECTIVE
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.
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Khaled K
KK
Abu-Amero
Taif Anwar
TA
Azad
Tahira
T
Sultan
Hatem
H
Kalantan
Altaf A
AA
Kondkar
Abdulrahman M
AM
Al-Muammar
D000328:Adult; D016022:Case-Control Studies; D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007640:Keratoconus / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012529:Saudi Arabia
D004272:DNA, Mitochondrial
Arabs; cornea; genetics; haplogroup; keratoconus; mitochondria