Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients
نویسندگان
چکیده
PURPOSE 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.
منابع مشابه
Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma
PURPOSE Prevalence rates for primary open-angle glaucoma (POAG) are significantly higher in Africans than in European or Asians. It has been reported recently that mitochondrial DNA (mtDNA) lineages of African origin, excluding L2, conferred susceptibility to POAG in Saudi Arabia. This prompted us to test the role of mtDNA haplogroups in the incidence of POAG in the Ghanaian population who has ...
متن کاملSusceptibility to primary angle closure glaucoma in Saudi Arabia: the possible role of mitochondrial DNA ancestry informative haplogroups
PURPOSE In a previous preliminary analysis we reported that mitochondrial DNA (mtDNA) haplogroup R0a was significantly more frequent in primary angle closure glaucoma (PACG) Saudi patients than in healthy Saudi controls. This result prompted us to extend our work using a significant larger Saudi PACG cohort and more healthy controls. METHODS We sequenced the mtDNA regulatory hypervariable reg...
متن کاملScreening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients
In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was is...
متن کاملAqueous Humor Levels of Soluble Fas and Fas-ligand in Patients with Primary Open Angle and Pseudoex-foliation Glaucoma
Background: Glaucoma is one of the most common causes of blindness and is usually associated with elevated intraocular pressure. In patients with primary open angle glau-coma the number of trabecular meshwork cells is decreased. Death of the trabecular meshwork cells may be a result of apoptosis. Objective: To investigate the aqueous humor levels of soluble Fas (sFas) and Fas-Ligand (sFasL) in ...
متن کاملAqueous Levels of Anti-Helicobacter Pylori IgG Antibody in Patients with Primary Open Angle and Pseudoexfoliation Glaucoma
Background: Glaucoma is a progressive optic neuropathy and is one of the leading causes of blindness worldwide. Different factors have been contributed in the pathogenesis of glaucoma including H. pylori infection. Objective: To determine the levels of anti-H. pylori IgG antibody in the aqueous humor of patients with pseudoexfoliation and primary open angle glaucoma, in comparison with age and ...
متن کامل