Eurasian and Sub-Saharan African mitochondrial DNA haplogroup influences pseudoexfoliation glaucoma development in Saudi patients

Mol Vis. 2011 Feb 19:17:543-7.


Purpose: To investigate whether different mitochondrial DNA (mtDNA) haplogroups have a role on the development of pseudoexfoliation glaucoma (PEG) in the Saudi Arab population.

Methods: The mtDNA regulatory region and coding regions comprising mtDNA haplogroup diagnostic polymorphisms were sequenced in patients with PEG (n=94), healthy matched controls (free of PEG; n=112) and a healthy Saudi Arab population group (n=810).

Results: The Eurasian haplogroup T and the Sub-Saharan African Haplogroup L2 confer susceptibility to PEG, whereas the Eurasian haplogroup N1 was associated with reduced risk to develop PEG in the Saudi Arab population.

Conclusions: Mitochondrial haplogroups T and L2 may play a role in the development of PEG in the Saudi Arabian population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa South of the Sahara
  • Black People / genetics*
  • DNA, Mitochondrial / genetics*
  • Europe
  • Exfoliation Syndrome / complications*
  • Exfoliation Syndrome / genetics*
  • Glaucoma / complications*
  • Glaucoma / genetics*
  • Haplotypes / genetics*
  • Humans
  • Saudi Arabia


  • DNA, Mitochondrial