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
Citations
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Journal ArticleDOI
Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology
TL;DR: Current knowledge of XFS pathogenesis is summarized, gaps in knowledge are identified, and areas for future research are discussed.
Journal ArticleDOI
Evaluation of lamina cribrosa and peripapillary sclera stiffness in pseudoexfoliation and normal eyes by atomic force microscopy.
Christoph Braunsmann,Christian M. Hammer,Johannes Rheinlaender,Friedrich E. Kruse,Tilman E. Schäffer,Ursula Schlötzer-Schrehardt +5 more
TL;DR: The marked decrease in stiffness, implying an increased deformability of the ONH in PEX eyes, may reflect an inherent tissue weakness rendering these eyes more vulnerable to glaucomatous damage.
Journal ArticleDOI
Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese.
Mineo Ozaki,Kelvin Y. C. Lee,Eranga N. Vithana,Victor H. K. Yong,Anbupalam Thalamuthu,Takanori Mizoguchi,Anandalakshmi Venkatraman,Tin Aung +7 more
TL;DR: Polymorphisms in the LOXL1 gene confer risk to XFS/XFG in the Japanese, but there are different risk-associated alleles and haplotypes in theJapanese.
Journal Article
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population.
Susan Williams,Benjamin T. Whigham,Yutao Liu,Trevor R. Carmichael,Xuejun Qin,Silke Schmidt,Michèle Ramsay,Michael A. Hauser,R. Rand Allingham +8 more
TL;DR: Surprisingly, the G allele of the major susceptibility variant rs3825942 has consistently been shown in multiple populations to increase the risk of XFG and is found with a strong association with the opposite allele in the South African population.
Journal ArticleDOI
Lysyl Oxidase Isoforms and Potential Therapeutic Opportunities for Fibrosis and Cancer.
TL;DR: This review summarizes the major findings of novel roles for lysyl oxidases in pathologies, and highlights some of the potential therapeutic approaches that are in development and which stem from these new findings.
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