advertisement
Abstract #47821 Published in IGR 13-4
Susceptibility to primary angle closure glaucoma in Saudi Arabia: The possible role of mitochondrial DNA ancestry informative haplogroups
Abu-Amero KK; Gonzalez AM; Osman EA; Larruga JM; Cabrera VM; Al-Obeidan SAMolecular Vision 2011; 17: 2171-2176
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 region-I (HVS-I) and coding regions, comprising haplogroup diagnostic polymorphisms, in 227 PACG Saudi patients and compared their haplogroup frequencies with those obtained from 186 matched healthy controls (free of PACG by examination) and from a large sample of 810 healthy Saudi Arabs representing the general Saudi population. Results: MtDNA Haplogroups R0a and J, the most abundant lineages in Saudi Arabia, were in significant higher frequencies in the PACG patients than in controls, while the widespread western Eurasian haplogroup U was associated with reduced risk to developing PACG. Conclusions: Haplogroups R0a and J could be ancestry informative markers for PACG in the Saudi Arabian population. In addition, the western Eurasian haplogroup U may play a mild protective effect to this illness. (copyright) 2011 Molecular Vision.
K. K. Abu-Amero. Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh 11411, Saudi Arabia. Email: abuamero@gmail.com
Classification:
9.3.5 Primary angle closure (Part of: 9 Clinical forms of glaucomas > 9.3 Primary angle closure glaucomas)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
