Association of CFH and SERPING1 polymorphisms with anterior uveitis

British Journal of Ophthalmology

Volumn 97, Issue 11, 2013, Pages 1475-1480

  Yang, Ming Ming ^a,b   Lai, Timothy Y ^a   Tam, Pancy O S ^a   Chiang, Sylvia W Y ^a   Ng, Tsz Kin ^a   Rong, Shi Song ^a   Pang, Chi Pui ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; COMPLEMENT FACTOR H; HLA B27 ANTIGEN;

ADULT; AGED; ARTICLE; COMPLEMENT COMPONENT 1 INHIBITOR GENE; COMPLEMENT FACTOR H GENE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; IRIDOCYCLITIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROGNOSIS; RECURRENCE RISK; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETICS; IMMUNOLOGY; INFLAMMATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; COMPLEMENT C1 INACTIVATOR PROTEINS; COMPLEMENT FACTOR H; DNA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; UVEITIS, ANTERIOR; YOUNG ADULT;

EID: 84888625169     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2013-303679     Document Type: Article

References (28)

1. Chang JH, Wakefield D. Uveitis: a global perspective. Ocul Immunol Inflamm 2002;10:263-79. (Pubitemid 36886369)
2. Nussenblatt RB, Gery I. Experimental autoimmune uveitis and its relationship to clinical ocular inflammatory disease. J Autoimmun 1996;9:575-85. (Pubitemid 26370968)
3. Caspi RR. Immune mechanisms in uveitis. Springer Semin Immunopathol 1999;21:113-24. (Pubitemid 29353999)
4. Martin TM, Rosenbaum JT. Genetics in uveitis. Int Ophthalmol Clin 2005;45:15-30. (Pubitemid 40570750)
5. Chang JH, McCluskey PJ, Wakefield D. Acute anterior uveitis and HLA-B27. Surv Ophthalmol 2005;50:364-88. (Pubitemid 40828227)
6. Jha P, Sohn JH, Xu Q, et al. The complement system plays a critical role in the development of experimental autoimmune anterior uveitis. Invest Ophthalmol Vis Sci 2006;47:1030-8. (Pubitemid 46768336)
7. Jha P, Sohn JH, Xu Q, et al. Suppression of complement regulatory proteins (CRPs) exacerbates experimental autoimmune anterior uveitis (EAAU). J Immunol 2006;176:7221-31. (Pubitemid 43849022)
8. Read RW, Szalai AJ, Vogt SD, et al. Genetic deficiency of C3 as well as CNS-targeted expression of the complement inhibitor sCrry ameliorates experimental autoimmune uveoretinitis. Exp Eye Res 2006;82:389-94. (Pubitemid 43138952)
9. Yang MM, Lai TY, Tam PO, et al. CFH 184G as a genetic risk marker for anterior uveitis in Chinese females. Mol Vis 2011;17:2655-64.
10. Yang MM, Lai TY, Tam PO, et al. Association of C2 and CFB polymorphisms with anterior uveitis. Invest Ophthalmol Vis Sci 2012;53:4969-74.
11. Davis AE III, Mejia P, Lu F. Biological activities of C1 inhibitor. Mol Immunol 2008;45:4057-63.
12. Lu F, Fernandes SM, Davis AE III. The role of the complement and contact systems in the dextran sulfate sodium-induced colitis model: the effect of C1 inhibitor in inflammatory bowel disease. Am J Physiol Gastrointest Liver Physiol 2010;298:G878-83.
13. Cicardi M, Agostoni A. Hereditary angioedema. N Engl J Med 1996;334:1666-7. (Pubitemid 26192529)
14. Davis AE III, Aulak K, Parad RB, et al. C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. Nat Genet 1992;1:354-8.
15. Ennis S, Jomary C, Mullins R, et al. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. Lancet 2008;372:1828-34.
16. Nakata I, Yamashiro K, Yamada R, et al. Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese. PloS ONE 2011;6:e19108.
17. Jabs DA, Nussenblatt RB, Rosenbaum JT. Standardization of uveitis nomenclature for reporting clinical data. Results of the First International Workshop. Am J Ophthalmol 2005;140:509-16. (Pubitemid 41224845)
18. Konno Y, Numaga J, Tsuchiya N, et al. HLA-B27 subtypes and HLA class II alleles in Japanese patients with anterior uveitis. Invest Ophthalmol Vis Sci 1999;40:1838-44. (Pubitemid 29297164)
19. Liszewski MK, Farries TC, Lublin DM, et al. Control of the complement system. Adv Immunol 1996;61:201-83. (Pubitemid 26065042)
20. Bando Y, Tanouchi Y, Fukuyado K, et al. [The dynamics of leucocytes and complements in endotoxin induced uveitis]. Nippon Ganka Gakkai Zasshi 1989;93:369-74.
21. Kim YH, He S, Kase S, et al. Regulated secretion of complement factor H by RPE and its role in RPE migration. Graefes Arch Clin Exp Ophthalmol 2009;247:651-9.
22. Brosnan JT, Brosnan ME. Branched-chain amino acids: enzyme and substrate regulation. J Nutr 2006;136:207S-11S. (Pubitemid 43156510)
23. Zipfel PF, Skerka C, Hellwage J, et al. Factor H family proteins: on complement, microbes and human diseases. Biochem Soc Trans 2002;30:971-8. (Pubitemid 36002390)
24. Jokiranta TS, Hellwage J, Koistinen V, et al. Each of the three binding sites on complement factor H interacts with a distinct site on C3b. J Biol Chem 2000;275:27657-62.
25. Sharma AK, Pangburn MK. Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis. Proc Natl Acad Sci USA 1996;93:10996-1001. (Pubitemid 26333106)
26. Okemefuna AI, Gilbert HE, Griggs KM, et al. The regulatory SCR-1/5 and cell surface-binding SCR-16/20 fragments of factor H reveal partially folded-back solution structures and different self-associative properties. J Mol Biol 2008;375:80-101. (Pubitemid 350161888)
27. Zipfel PF, Heinen S, Jozsi M, et al. Complement and diseases: defective alternative pathway control results in kidney and eye diseases. Mol Immunol 2006;43:97-106. (Pubitemid 41021526)
28. Davis AE III, Whitehead AS, Harrison RA, et al. Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. Proc Natl Acad Sci USA 1986;83:3161-5. (Pubitemid 16042996)