title: Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients.
abstract: OBJECTIVE
  We previously reported that certain mitochondrial DNA (mtDNA) polymorphisms in the coding region may be involved in the pathogenesis for primary open-angle-glaucoma (POAG). This encouraged us to extend our work and assess whether mtDNA diagnostic polymorphisms, defining geographically structured haplogroups, could be associated with the development of POAG.
  
  
  METHODS
  We sequenced the mtDNA regulatory hypervariable region-I (HVS-I) region and coding regions, comprising haplogroup diagnostic polymorphisms, in 176 POAG patients and 186 matched healthy controls (free of glaucoma by examination) of Saudi Arabia ascendancy. A large sample of 810 healthy Saudi Arabs representing the general Saudi population has also been included in the analysis. Assigning individuals into various mitochondrial haplogroups was performed using the nomenclature previously described for African and for Eurasian sequences.
  
  
  RESULTS
  African mtDNA haplotypes belonging to L haplogroups, excluding L2, confer susceptibility to POAG whereas the Eurasian haplogroup N1 was associated with reduced risk of developing POAG in Saudi Arabian population.
  
  
  CONCLUSIONS
  Saudi individuals with mtDNA of African origin are at higher risk of developing POAG. In addition, the mtDNA Eurasian haplogroup N1 may play a mild protective effect to this illness.
authors.affiliation: Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. abuamero@gmail.com
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Ana M
authors.initials: AM
authors.lastname: González
authors.forename: Essam A
authors.initials: EA
authors.lastname: Osman
authors.forename: José M
authors.initials: JM
authors.lastname: Larruga
authors.forename: Vicente M
authors.initials: VM
authors.lastname: Cabrera
authors.forename: Saleh A
authors.initials: SA
authors.lastname: Al-Obeidan
mesh_terms: D000328:Adult; D000349:Africa / Q000208:ethnology; D018912:Arabs; D044383:Black People; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000208:ethnology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D016366:Open Reading Frames; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012529:Saudi Arabia / Q000453:epidemiology; D044465:White People
chemical_list: D004272:DNA, Mitochondrial