Journal ArticleDOI
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Gudmar Thorleifsson,Kristinn P. Magnusson,Patrick Sulem,G. Bragi Walters,Daniel F. Gudbjartsson,Hreinn Stefansson,Thorlakur Jonsson,Adalbjorg Jonasdottir,Aslaug Jonasdottir,Gerdur Stefansdottir,Gisli Masson,Gudmundur A. Hardarson,H. Petursson,Arsaell Arnarsson,Mehdi Motallebipour,Ola Wallerman,Claes Wadelius,Jeffrey R. Gulcher,Unnur Thorsteinsdottir,Augustine Kong,Fridbert Jonasson,Kari Stefansson +21 more
TLDR
Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association with glaucoma, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS).Abstract:
Glaucoma is a leading cause of irreversible blindness A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q241 region associated with glaucoma Further investigation revealed that the association is confined to exfoliation glaucoma (XFG) Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS) About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes The population-attributable risk is more than 99% The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFGread more
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Journal Article
Eurasian and Sub-Saharan African mitochondrial DNA haplogroup influences pseudoexfoliation glaucoma development in Saudi patients
Khaled K. Abu-Amero,Vicente M. Cabrera,José M. Larruga,Essam A. Osman,Ana M. González,Saleh A. Al-Obeidan +5 more
TL;DR: Mitochondrial haplogroups T and L2 may play a role in the development of PEG in the Saudi Arabian population.
Journal ArticleDOI
Prevalence and Associated Factors of Pseudoexfoliation in a Russian Population: The Ural Eye and Medical Study
Mukharram M. Bikbov,Rinat M. Zainullin,Timur R. Gilmanshin,Gyulli M. Kazakbaeva,Dilya F. Yakupova,Ildar F. Nuriev,Artur F. Zaynetdinov,Timur A. Khalimov,Songhomitra Panda-Jonas,Yulia V. Uzianbaeva,Ellina M. Rakhimova,Iulia Rusakova,Venera F. Salavatova,Inga I. Arslangareeva,Guzel Bikbova,Nikolay A Nikitin,Jost B. Jonas +16 more
TL;DR: In this typical, ethnically mixed, population from Russia with an age of 40+ years, PEX prevalence was associated with older age, Russian ethnicity, higher intraocular pressure and open-angle glaucoma and was independent of any systemic parameter including diabetes, arterial hypertension, previous cardiovascular and cerebrovascular diseases and dementia.
Journal Article
Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese
Wei Fen Gong,Sylvia W. Y. Chiang,Li Jia Chen,Pancy O. S. Tam,Li Yun Jia,Dexter Y L Leung,Yi Qun Geng,Clement C Y Tham,Dennis S.C. Lam,Robert Ritch,Ningli Wang,Chi Pui Pang +11 more
TL;DR: Individual LOXL1 SNPs, rs1048661, rs3825942, and rs2165241, were not associated with POAG in the Chinese population, however, a minor haplotype T-G-T was found to be associated with the disorder in the southern Chinese.
Journal ArticleDOI
Genome-wide association studies: applications and insights gained in Ophthalmology
TL;DR: An extensive literature review is conducted and the concept, design, advantages, and limitations of GWAS are described and a detailed description of the applications and discoveries ofGWAS in the field of eye disease to date are provided.
Journal ArticleDOI
Biobanks and the importance of detailed phenotyping: a case study—the European Glaucoma Society GlaucoGENE project
Panayiota Founti,Fotis Topouzis,L van Koolwijk,C E Traverso,Norbert Pfeiffer,Ananth C. Viswanathan +5 more
TL;DR: This report examines the European Glaucoma Society GlaucoGENE project, which is the only large multicentre glaucomA-specific biobank and is expected to become a major resource for future studies on glau coma.
References
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