Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients

Genetic Testing

Volumn 12, Issue 3, 2008, Pages 431-436

  Götting, Christian ^a   Hendig, Doris ^a   Zarbock, Ralf ^a   Szliska, Christiane ^b   Kleesiek, Knut ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b Krankenhaus Bethesda   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H;

ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC RISK; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GERMANY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERTENSION; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PSEUDOXANTHOMA ELASTICUM; RETINA HEMORRHAGE; RETINA MACULA AGE RELATED DEGENERATION; RETINA NEOVASCULARIZATION; SMOKING; VISUAL IMPAIRMENT;

EID: 50649086151     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0026     Document Type: Article

References (44)

1. Allikmets R (2000) Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet 67:487-491.
2. Allikmets R, Shroyer NF, Singh N, et al. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807.
3. Bird AC, Bressler NM, Bressler SB, et al. (1995) An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol 39:367-374.
4. Chassaing N, Martin L, Calvas P, et al. (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881-892.
5. Chassaing N, Martin L, Mazereeuw J, et al. (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol 122:608-613.
6. de Jong PT (2006) Age-related macular degeneration. N Engl J Med 355:1474-1485.
7. de Jong PT, Klaver CC, Wolfs RC, et al. (1997) Familial aggregation of age-related maculopathy. Am J Ophthalmol 124:862-863.
8. Despriet DD, Klaver CC, Witteman JC, et al. (2006) Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 296:301-309.
9. Dupont WD, Plummer WD, Jr. (1990) Power and sample size calculations. A review and computer program. Control Clin Trials 11:116-128.
10. Edwards AO, Ritter R, 3rd, Abel KJ, et al. (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421-424.
11. Eyetech Study Group (2003) Anti-vascular endothelial growth factor therapy for subfoveal choroidal neovascularization secondary to age-related macular degeneration: phase II study results. Ophthalmology 110:979-986.
12. Gorin MB, Breitner JC, de Jong PT, et al. (1999) The genetics of age-related macular degeneration. Mol Vis 5:29.
13. Götting C, Hendig D, Adam A, et al. (2005) Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis. J Mol Med 83:984-992.
14. Hageman GS, Anderson DH, Johnson LV, et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 102:7227-7232.
15. Haines JL, Hauser MA, Schmidt S, et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421.
16. Hendig D, Arndt M, Szliska C, et al. (2007) SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum. Clin Chem 53:829-836.
17. Hendig D, Schulz V, Arndt M, et al. (2006) Role of serum fetuin-A, a major inhibitor of systemic calcification, in pseudoxanthoma elasticum. Clin Chem 52:227-234.
18. Hu X, Plomp AS, van Soest S, et al. (2003) Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol 48:424-438.
19. Johnson PT, Betts KE, Radeke MJ, et al. (2006) Individuals homozygous for the age-related macular degeneration riskconferring variant of complement factor H have elevated levels of CRP in the choroid. Proc Natl Acad Sci USA 103:17456-17461.
20. Klein RJ, Zeiss C, Chew EY, et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389.
21. Ladewig MS, Götting C, Szliska C, et al. (2006) Pseudoxanthoma elasticum. Ophthalmologe 103:537-553.
22. Laine M, Jarva H, Seitsonen S, et al. (2007) Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. J Immunol 178:3831-3836.
23. Lebwohl M, Halperin J, Phelps RG (1993) Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. N Engl J Med 329:1237-1239.
24. Lebwohl M, Neldner K, Pope FM, et al. (1994) Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol 30:103-107.
25. Neldner KH (1988) Pseudoxanthoma elasticum. Int J Dermatol 27:98-100.
26. Neldner K, Struk B (2002) Pseudoxanthoma elasticum. In: Royce PM, Steinmann B (eds) Connective Tissue and Its Heritable Disorders. Wiley-Liss Inc., New York, pp 561-583.
27. Nowak JZ (2006) Age-related macular degeneration (AMD): pathogenesis and therapy. Pharmacol Rep 58:353-363.
28. Oppermann M, Manuelian T, Jozsi M, et al. (2006) The C-terminus of complement regulator factor H mediates target recognition: evidence for a compact conformation of the native protein. Clin Exp Immunol 144:342-352.
29. Pasquali-Ronchetti I, Garcia-Fernandez MI, Boraldi F, et al. (2006) Oxidative stress in fibroblasts from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations. J Pathol 208:54-61.
30. Passi A, Albertini R, Baccarani Contri M, et al. (1996) Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum. Cell Biochem Funct 14:111-120.
31. Provis JM, Penfold PL, Cornish EE, et al. (2005) Anatomy and development of the macula: specialisation and the vulnerability to macular degeneration. Clin Exp Optom 88:269-281.
32. Renie WA, Pyeritz RE, Combs J, Fine SL (1984) Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. Am J Med Genet 19:235-244.
33. Ringpfeil F (2005) Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis. Clin Dermatol 23:41-46.
34. Sasieni PD (1997) From genotypes to genes: doubling the sample size. Biometrics 53:1253-1261.
35. Scheffer GL, Hu X, Pijnenborg AC, et al. (2002) MRP6 (ABCC6) detection in normal human tissues and tumors. Lab Invest 82:515-518.
36. Scholl HP, Fleckenstein M, Charbel Issa P, et al. (2007) An update on the genetics of age-related macular degeneration. Mol Vis 13:196-205.
37. Seddon JM, Ajani UA, Mitchell BD (1997) Familial aggregation of age-related maculopathy. Am J Ophthalmol 123:199-206.
38. Sepp T, Khan JC, Thurlby DA, et al. (2006) Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci 47:536-540.
39. Sherer DW, Bercovitch L, Lebwohl M (2001) Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol 44:534-537.
40. Skol AD, Scott LJ, Abecasis GR, Boehnke M (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209-213.
41. Uitto J (2004) Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface? J Invest Dermatol 122:ix-x.
42. Yu J, Wiita P, Kawaguchi R, et al. (2007) Biochemical analysis of a common human polymorphism associated with age-related macular degeneration. Biochemistry (Mosc) 46:8451-8461.
43. Zarbock R, Hendig D, Szliska C, et al. (2007) Pseudoxanthoma elasticum: genetic variations in antioxidant genes are risk factors for early disease onset. Clin Chem 53:1734-1740.
44. Zareparsi S, Branham KE, Li M, et al. (2005) Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 77:149-153.