Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population

REFERENCES

• Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996;80:389–393.
   PubMed Web of Science ®Google Scholar
• Dielemans I, Vingerling JR, Wolfs RC, et al. The prevalence of primary open-angle glaucoma in a population-based study in The Netherlands. The Rotterdam Study. Ophthalmology 1994;101:1851–1855.
   PubMed Web of Science ®Google Scholar
• Topouzis F, Wilson MR, Harris A, et al. Prevalence of open-angle glaucoma in Greece: the Thessaloniki Eye Study. Am J Ophthalmol 2007;144:511–519.
   PubMedGoogle Scholar
• Naumann GO, Schlötzer-Schrehardt U, Küchle M. Pseudoexfoliation syndrome for the comprehensive ophthalmologist. Intraocular and systemic manifestations. Ophthalmology 1998;105:951–968.
   PubMed Web of Science ®Google Scholar
• Ringvold A. Epidemiology of the pseudo-exfoliation syndrome. Acta Ophthalmol Scand 1999;77:371–375.
   PubMedGoogle Scholar
• Challa P. Genetics of pseudoexfoliation syndrome. Curr Opin Ophthalmol 2009;20:88–91.
   Google Scholar
• Ritch R, Schlötzer-Schrehardt U. Exfoliation syndrome. Surv Ophthalmol 2001;45:265–315.
   PubMed Web of Science ®Google Scholar
• Schlotzer-Schrehardt U, Naumann GOH. Trabecular meshwork in pseudoexfoliation syndrome with and without open-angle glaucoma. A morphometric, ultrastructural study. Invest Ophthalmol Vis Sci 1995;36:1750–1764.
   PubMed Web of Science ®Google Scholar
• Schlötzer-Schrehardt U, Naumann GO. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol 2006;141:921–937.
   PubMed Web of Science ®Google Scholar
• Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 2007;317:1397–1400.
   PubMed Web of Science ®Google Scholar
• Kagan HM, Li W. Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell. J Cell Biochem 2003;88:660–672.
   PubMed Web of Science ®Google Scholar
• Thomassin L, Werneck CC, Broekelmann TJ, et al. The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers. J Biol Chem 2005;280:42848–42855.
   PubMed Web of Science ®Google Scholar
• Fingert JH, Alward WL, Kwon YH, et al. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol 2007;144:974–975.
   PubMed Web of Science ®Google Scholar
• Aragon-Martin JA, Ritch R, Liebmann J, et al. Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. Mol Vis 2008;14:533–541.
   PubMed Web of Science ®Google Scholar
• Challa P, Schmidt S, Liu Y, et al. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol Vis 2008;14:146–149.
   PubMed Web of Science ®Google Scholar
• Hewitt AW, Sharma S, Burdon KP, et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet 2008;17:710–716.
   PubMed Web of Science ®Google Scholar
• Pasutto F, Krumbiegel M, Mardin CY, et al. Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2008;49:1459–1563.
   PubMed Web of Science ®Google Scholar
• Mossböck G, Renner W, Faschinger C, et al. Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. Mol Vis 2008;14:857–861.
   PubMed Web of Science ®Google Scholar
• Hayashi H, Gotoh N, Ueda Y, et al. Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. Am J Ophthalmol 2008;145:582–585.
   Google Scholar
• Mori K, Imai K, Matsuda A, et al. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. Mol Vis 2008;14:1037–1040.
   PubMedGoogle Scholar
• Ramprasad VL, George R, Soumittra N, et al. Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India. Mol Vis 2008;14:318–322.
   PubMed Web of Science ®Google Scholar
• Chen H, Chen LJ, Zhang M, Gong W, Tam PO, Lam DS, Pang CP. Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. Mol Vis 2010;16:167–177.
   PubMed Web of Science ®Google Scholar
• Conway RM, Schlötzer-Schrehardt U, Küchle M, et al. Pseudoexfoliation syndrome: pathologic manifestations of relevance to intraocular surgery. Clin Exp Ophthalmol 2004;32:199–210.
   PubMed Web of Science ®Google Scholar
• Forsius H. Prevalence of pseudoexfoliation of the lens in Finns, Lapps, Icelanders, Eskimos, and Russians. Trans Ophthalmol Soc UK 1979;99:296–298.
   PubMedGoogle Scholar
• Tarkkanen AH. Exfoliation syndrome. Trans Ophthalmol Soc UK 1986;105:233–236.
   PubMedGoogle Scholar
• Cashwell LF Jr, Shields MB. Exfoliation syndrome. Prevalence in a southeastern United States population. Arch Ophthalmol 1988;106:335–336.
   Google Scholar
• Chen L, Jia L, Wang N, et al. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in a Chinese population Mol Vis 2009;15:2349–2357.
   Google Scholar
• Ozaki M, Lee KY, Vithana EN, et al. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest Ophthalmol Vis Sci 2008;49:3976–3980.
   PubMed Web of Science ®Google Scholar
• Fuse N, Miyazawa A, Nakazawa T, et al. Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Mol Vis 2008;14:1338–1343.
   PubMed Web of Science ®Google Scholar
• Williams SE, Whigham BT, Liu Y, et al. Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. Mol Vis 2010;16:705–712.
   PubMed Web of Science ®Google Scholar
• Lemmelä S, Forsman E, Onkamo P, et al. Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet 2009; 54:289–297.
   PubMed Web of Science ®Google Scholar
• Lee KY, Ho SL, Thalamuthu A, et al. Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. Mol Vis 2009;15:1120–1126.
   PubMed Web of Science ®Google Scholar
• Shriver MD, Kennedy GC, Parra EJ, et al. The genomic distribution of population substructure in four populations using 8,525 autosomal SNPs. Hum Genomics 2004;1:274–286.
   Google Scholar
• Fan BJ, Pasquale LR, Rhee D, Li T, Haines JL, Wiggs JL. LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. Invest Ophthalmol Vis Sci 2011;52:2372–2378.
   PubMed Web of Science ®Google Scholar