Apolipoprotein e genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma

Journal of Glaucoma

Volumn 19, Issue 8, 2010, Pages 561-565

  Krumbiegel, Mandy ^a   Pasutto, Francesca ^a   Mardin, Christian Y ^b   Weisschuh, Nicole ^c   Paoli, Daniela ^d   Gramer, Eugen ^e   Weber, Bernhard H F ^f   Kruse, Friedrich E ^b   Schlötzer Schrehardt, Ursula ^b   Reis, André ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d Hospital of Monfalcone Gorizia   (Italy)

^e UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^f UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

apolipoprotein E; association study; Pseudoexfoliation syndrome

Indexed keywords

APOLIPOPROTEIN E2; APOLIPOPROTEIN E3; APOLIPOPROTEIN E4;

AGE DISTRIBUTION; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; GERMANY; GLAUCOMA; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; PSEUDOEXFOLIATION; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; ALLELES; APOLIPOPROTEINS E; EXFOLIATION SYNDROME; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED;

EID: 78049269866     PISSN: 10570829     EISSN: None     Source Type: Journal    
DOI: 10.1097/IJG.0b013e3181ca76c4     Document Type: Article

References (59)

1. Schlotzer-Schrehardt U, Naumann GO. Ocular and systemic pseudoexfoliation syndrome. Am J Ophthalmol. 2006;141:921-937.
2. Ritch R, Schlotzer-Schrehardt U. Exfoliation syndrome. Surv Ophthalmol. 2001;45:265-315. (Pubitemid 32146432)
3. Zenkel M, Poschl E, Von der Mark K, et al. Differential gene expression in pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci. 2005;46:3742-3752.
4. Zenkel M, Kruse FE, Naumann GO, et al. Impaired cytoprotec-tive mechanisms in eyes with pseudoexfoliation syndrome/glaucoma. Invest Ophthalmol Vis Sci. 2007;48:5558-5566.
5. Forsius H, Forsman E, Fellman J, et al. Exfoliation syndrome: frequency, gender distribution and association with climatically induced alterations of the cornea and conjunctiva. Acta Ophthalmol Scand. 2002;80:478-484.
6. Ringvold A. Epidemiology of the pseudo-exfoliation syndrome. Acta Ophthalmol Scand. 1999;77:371-375.
7. Rao RQ, Arain TM, Ahad MA. The prevalence of pseudo-exfoliation syndrome in Pakistan. Hospital based study. BMC Ophthalmol. 2006;6:27.
8. 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.
9. Pasutto F, Krumbiegel M, Mardin CY, et al. Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudo-exfoliation glaucoma. Invest Ophthalmol Vis Sci. 2008;49: 1459-1463.
10. 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.
11. 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.
12. Fan BJ, Pasquale L, Grosskreutz CL, et al. DNA sequence variants in the LOXL1 gene are associated with pseudoexfolia-tion glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet. 2008;9:5.
13. 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.
14. 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.
15. 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.
16. Schlotzer-Schrehardt U, Pasutto F, Sommer P, et al. Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. Am J Pathol. 2008;173:1724-1735.
17. Janciauskiene S, Krakau T. Alzheimer's peptide: a possible link between glaucoma, exfoliation syndrome and Alzheimer's disease. Acta Ophthalmol Scand. 2001;79:328-329.
18. Berlau J, Lorenz P, Beck R, et al. Analysis of aqueous humour proteins of eyes with and without pseudoexfoliation syndrome. Graefes Arch Clin Exp Ophthalmol. 2001;239:743-746.
19. Li ZY, Streeten BW, Yohai N. Amyloid P protein in pseudo-exfoliative fibrillopathy. Curr Eye Res. 1989;8:217-227.
20. Zenkel M, Kruse FE, Junemann AG, et al. Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material. Invest Ophthalmol Vis Sci. 2006;47:1982-1990.
21. Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipo-protein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA. 1993;90:1977-1981.
22. Castano EM, Prelli FC, Frangione B. Apolipoprotein E and amyloidogenesis. Lab Invest. 1995;73:457-460.
23. Weisgraber KH, Rall SC Jr, Mahley RW. Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms. J Biol Chem. 1981;256:9077-9083.
24. Rall SC Jr, Weisgraber KH, Innerarity TL, et al. Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects. Proc Natl Acad Sci USA. 1982;79:4696-4700.
25. Song Y, Stampfer MJ, Liu S. Meta-analysis: apolipoprotein E genotypes and risk for coronary heart disease. Ann Intern Med. 2004;141:137-147.
26. Prasher VP, Sajith SG, Rees SD, et al. Significant effect of APOE epsilon 4 genotype on the risk of dementia in Alzheimer's disease and mortality in persons with Down syndrome. Int J Geriatr Psychiatry. 2008;23:1134-1140.
27. Klaver CC, Kliffen M, Van Duijn CM, et al. Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet. 1998;63:200-206.
28. Schmidt S, Saunders AM, De La Paz MA, et al. Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis. 2000;6:287-293.
29. Schultz DW, Klein ML, Humpert A, et al. Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. Arch Ophthalmol. 2003;121:679-683.
30. Zareparsi S, Reddick AC, Branham KE, et al. Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center. Invest Ophthalmol Vis Sci. 2004;45:1306-1310.
31. Baird PN, Guida E, Chu DT, et al. The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2004; 45:1311-1315.
32. Utheim OA, Ritland JS, Utheim TP, et al. Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration. Acta Ophthalmol. 2008;86:401-403.
33. Al-Dabbagh NM, Al-Dohayan N, Arfin M, et al. Apolipo-protein E polymorphisms and primary glaucoma in Saudis. Mol Vis. 2009;15:912-919.
34. Junemann A, Bleich S, Reulbach U, et al. Prospective case control study on genetic assocation of apolipoprotein epsilon2 with intraocular pressure. Br J Ophthalmol. 2004;88:581-582.
35. Mabuchi F, Tang S, Ando D, et al. The apolipoprotein E gene polymorphism is associated with open angle glaucoma in the Japanese population. Mol Vis. 2005;11:609-612.
36. Vickers JC, Craig JE, Stankovich J, et al. The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma. Mol Vis. 2002;8:389-393.
37. Yuan HP, Xiao Z, Yang BB. A study on the association of apolipoprotein E genotypes with primary open-angle glaucoma and primary angle-closure glaucoma in northeast of China. Zhonghua Yan Ke Za Zhi. 2007;43:416-420.
38. Jia LY, Tam PO, Chiang SW, et al. Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese. Mol Vis. 2009;15:89-98.
39. Ressiniotis T, Griffiths PG, Birch M, et al. Apolipoprotein E promoter polymorphisms do not have a major influence on the risk of developing primary open angle glaucoma. Mol Vis. 2004;10:805-807.
40. Saglar E, Yucel D, Bozkurt B, et al. Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients. Mol Vis. 2009;15:1270-1276.
41. Zetterberg M, Tasa G, Palmer MS, et al. Apolipoprotein E polymorphisms in patients with primary open-angle glaucoma. Am J Ophthalmol. 2007;143:1059-1060.
42. Yilmaz A, Tamer L, Ates NA, et al. Effects of apolipoprotein E genotypes on the development of exfoliation syndrome. Exp Eye Res. 2005;80:871-875.
43. Ritland JS, Utheim TP, Utheim OA, et al. Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome. Acta Ophthalmol Scand. 2007;85:257-261.
44. Barrett JC, Fry B, Maller J, et al. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005; 21:263-265.
45. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001;68:978-989.
46. Stephens M, Scheet P. Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet. 2005;76:449-462.
47. Wang ZP, Li HQ. Sample size requirements for association studies on gene-gene interaction in case-control study. Zhon-ghua Liu Xing Bing Xue Za Zhi. 2004;25:623-626.
48. Linner E, Popovic V, Gottfries CG, et al. The exfoliation syndrome in cognitive impairment of cerebrovascular or Alzheimer's type. Acta Ophthalmol Scand. 2001;79:283-285.
49. Benjamin R, Leake A, Ince PG, et al. Effects of apolipoprotein E genotype on cortical neuropathology in senile dementia of the Lewy body and Alzheimer's disease. Neurodegeneration. 1995;4:443-448.
50. Arai H, Higuchi S, Muramatsu T, et al. Apolipoprotein E gene in diffuse Lewy body disease with or without co-existing Alzheimer's disease. Lancet. 1994;344:1307.
51. Arai H, Muramatsu T, Higuchi S, et al. Apolipoprotein E gene in Parkinson's disease with or without dementia. Lancet. 1994;344:889.
52. Schupf N, Kapell D, Lee JH, et al. Onset of dementia is associated with apolipoprotein E epsilon4 in Down's syndrome. Ann Neurol. 1996;40:799-801.
53. Wisniewski T, Frangione B. Apolipoprotein E: a pathological chaperone protein in patients with cerebral and systemic amyloid. Neurosci Lett. 1992;135:235-238.
54. Sharma S, Chataway T, Burdon KP, et al. Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry. Exp Eye Res. 2009;89:479-485.
55. Ovodenko B, Rostagno A, Neubert TA, et al. Proteomic analysis of exfoliation deposits. Invest Ophthalmol Vis Sci. 2007;48:1447-1457.
56. Krumbiegel M, Pasutto F, Mardin CY, et al. Exploring functional candidate genes for genetic association in German patients with pseudoexfoliation syndrome and pseudo-exfoliation glaucoma. Invest Ophthalmol Vis Sci. 2009;50: 2796-2801.
57. Corbo RM, Scacchi R, Mureddu L, et al. Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations. Ann Hum Genet. 1995;59:197-209.
58. Sklavounou E, Economou-Petersen E, Karadima G, et al. Apolipoprotein E polymorphism in the Greek population. Clin Genet. 1997;52:216-218.
59. Morrison JC, Green WR. Light microscopy of the exfoliation syndrome. Acta Ophthalmol Suppl. 1988;184:5-27.