Genome-wide scan of exfoliation syndrome

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 9, 2007, Pages 4136-4142

  Lemmelä, Susanna ^a   Forsman, Eva ^b   Sistonen, Pertti ^c   Eriksson, Aldur ^b   Forsius, Henrik ^b   Järvelä, Irma ^a,d  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c Red Cross Finland   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 17P; CHROMOSOME 19Q; CHROMOSOME ANALYSIS; EXFOLIATION SYNDROME; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENETIC TRAIT; GENOME; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; PROMOTER REGION; CHROMOSOME 18; CHROMOSOME MAP; FINLAND; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE;

CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; MICROSATELLITE DNA; MYOCILIN; OPTN PROTEIN, HUMAN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN; TRANSCRIPTION FACTOR IIIA; UNCLASSIFIED DRUG;

AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXFOLIATION SYNDROME; EYE PROTEINS; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; TRANSCRIPTION FACTOR TFIIIA;

EID: 35148812970     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-1092     Document Type: Article

References (41)

1. Klemetti A. Intraocular pressure in exfoliation syndrome. Acta Ophthalmol Scand. 1988;66:54-58.
2. Mitchell P, Wang JJ, Hourihan F. The relationship between glaucoma and pseudoexfoliation: the Blue Mountains Eye Study. Arch Ophthalmol. 1999;117:1319-1324.
3. Leske MC, Heijl A, Hussein M, Bengtsson B, Hyman L, Komaroff E. Factors for glaucoma progression and the effect of treatment: The Early Manifest Glaucoma Trial. Arch Ophthalmol. 2003;121:48-56.
4. Lindberg JG. Clinical investigations on depigmentation of the papillary border and translucency of the iris in cases of senile cataract and in normal eyes in elderly persons. Acta Opthalmol Suppl (Copenh). 1982;190:1-96.
5. Schlotzer-Schrehardt UM, Koca MR, Naumann GO, Volkholz H. Pseudoexfoliation syndrome: ocular manifestation of a systemic disorder? Arch Ophthalmol. 1992;110:1752-1756.
6. Ritch R, Schlotzer-Schrehardt UM, Konstas AG. Why is glaucoma associated with exfoliation syndrome? Prog Retin Eye Res. 2003;22:253-275.
7. Zenkel M, Poschl E, von der Mark K, et al. Differential gene expression in pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci. 2005;46:3742-3752.
8. Forslus H. Exfoliation syndrome in various ethnic populations. Acta Ophthalmol Suppl. 1988;184:71-85.
9. Ringvold A, Blika S, Elsas T, et al. The middle-Norway eye-screening study. II. Prevalence of simple and capsular glaucoma. Acta Ophthalmol (Copenh). 1991;69:273-280.
10. Kozobolis VP, Papatzanaki M, Vlachonikolis IG, Pallikaris IG, Tsambarlakis IG. Epidemiology of pseudoexfoliation in the island of Crete (Greece). Acta Ophthalmol Scand. 1997;75:726-729.
11. Hirvela H, Tuulonen A, Laatikainen L. Intraocular pressure and prevalence of glaucoma in elderly people in Finland: a population-based study. Int Ophthalmol. 1994;18:299-307.
12. Pohjanpelta P, Hurskainen L. Studies on relatives of patients with glaucoma simplex and patients with pseudoexfoliation of the lens capsule. Acta Ophthalmol (Copenh). 1972;50:255-261.
13. Tarkkanen A. Pseudoexfoliation of the lens capsule: a clinical study of 418 patients with special reference to glaucoma, cataract, and changes of the vitreous. Thesis. University of Helsinki. Acta Ophthalmol. 1962;98(suppl 71):1-98.
14. Allingham RR, Loftsdottir M, Gottfredsdottir MS, et al. Pseudoexfoliation syndrome in Icelandic families. Br J Ophthalmol. 2001;85:702-707.
15. Orr AC, Robitaille JM, Price PA, et al. Exfoliation syndrome: clinical and genetic features. Ophthalmic Genet. 2001;22:171-185.
16. Damji KF, Bains HS, Stefansson E, et al. Is pseudoexfoliation syndrome inherited? - a review of genetic and nongenetic factors and a new observation. Ophthalmic Genet. 1998;19:175-185.
17. Forsius H, Fellman JO, Eriksson AW. Genetics of exfoliation syndrome (pseudoexfoliation) of the lens. New Trends Ophthalmol. 1993;8:135-139.
18. Kozobolis VP, Detorakis ET, Sourvinos G, Pallikaris IG, Spandidos DA. Loss of heterozygosity in pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci. 1999;40:1255-1260.
19. Zalewska R, Pepinski W, Smolenska-Janica D, et al. Loss of heterozygosity in patients with pseudoexfoliation syndrome. Mol Vis. 2003;9:257-261.
20. Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006;39:249-258.
21. Forsman E, Lemmela S, Varilo T, et al. The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study. Mol Vis. 2003;9:217-222.
22. Jansson M, Marknell T, Tomic L, Larsson LI, Wadelius C. Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls. Ophthalmic Genet. 2003;24:103-110.
23. Jansson M, Tomic L, Larsson LI, Wadelius C. Evaluation of the oculomedin gene in the etiology of primary open angle and exfoliative glaucoma. Mol Vis. 2003;9:93-95.
24. Sjostrand A, Tomic L, Larsson LI, Wadelius C. No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma. Acta Ophthalmol Scand. 2002;80:384-386.
25. Kong A, Gudbjartsson D, Sainz J, et al. A high-resolution recombination map of the human genome. Nat Genet. 2002;31:241-247.
26. O'Connell JR, Weeks DE. Pedcheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet. 1998;63:259-266.
27. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
28. Lathrop GM, Lalouel JM, White RL. Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol. 1986;3:39-52.
29. Ott J. Analysis of Human Genetic Linkage. 3rd ed. Baltimore, MD: The Johns Hopkins University Press; 1999.
30. Terwilliger JD, Goring HH. Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Hum Biol. 2000;72:63-132.
31. Terwilliger JD. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet. 1995;56:777-787.
32. O'Connell JR, Weeks DE. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet. 1995;11:402-408.
33. O'Connell JR. Rapid multipoint linkage analysis via inheritance vectors in the Elston-Stewart algorithm. Hum Hered. 2001;51:226-240.
34. Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. 1998;338:1022-1027.
35. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.
36. Schlötzer-Schrehardt U, Lommatzsch J, Küchle M, Konstas AG, Naumann GO. Matrix metalloproteinases and their inhibitors in aqueous humor of patients with pseudoexfoliation syndrome, pseudoexfoliation glaucoma, and primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2003;44:1117-1125.
37. Yilmaz A, Tamer L, Ates NA, Camdeviren H, Degirmenci U. Effects of apolipoprotein E genotypes on the development of exfoliation syndrome. Exp Eye Res. 2005;80:871-875.
38. Ho SL, Dogar GF, Wang J, et al. Elevated aqueous humour tissue inhibitor of matrix metalloproteinase-1 and connective tissue growth factor in pseudoexfoliation syndrome. Br J Ophthalmol. 2005;89:169-173.
39. Nemesure B, Jiao X, He Q, et al. A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Hum Genet. 2003;112:600-609.
40. Wiggs JL, Allingham RR, Hossain A, et al. Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet. 2000;9:1109-1117.
41. Schlotzer-Schrehardt U, Zenkel M, Decking U, et al. Selective upregulation of the A3 adenosine receptor in eyes with pseudoexfoliation syndrome and glaucoma. Invest Ophthalmol Vis Sci. 2005;46:2023-2034.