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Complement Factor H Y403H Polymorphism in the Turkish Population


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Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. The spectrum of phenotypes caused by variants in the CFH gene. Mol Immunol. 2009; 46(8-9): 1573-159410.1016/j.molimm.2009.02.013Search in Google Scholar

Rodriguez de Cordoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sanchez-Corral P. The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol. 2004; 41(4): 355-367.10.1016/j.molimm.2004.02.005Search in Google Scholar

Male DA, Ormsby RJ, Ranganathan S, Giannakis E, Gordon DL. Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire FH, FHR-1 and FHR-3 genes. Mol Immunol. 2000; 37(1-2): 41-52.10.1016/S0161-5890(00)00024-9Search in Google Scholar

Ripoche J, Day AJ, Harris TJ, Sim RB. The complete amino acid sequence of human complement factor H. Biochem J. 1988; 249(2): 593-602.10.1042/bj2490593Search in Google Scholar

Blackmore TK, Sadlon TA, Ward HM, Lublin DM, Gordon DL. Identification of a heparin binding domain in the seventh short consensus repeat of complement factor H. J Immunol. 1996; 157(12): 5422-5427.10.4049/jimmunol.157.12.5422Search in Google Scholar

Pangburn MK, Atkinson MA, Meri S. Localization of the heparin-binding site on complement factor H. J Biol Chem. 1991; 266(25): 16847-16853.10.1016/S0021-9258(18)55379-5Search in Google Scholar

Ram S, McQuillen DP, Gulati S, Elkins C, Pangburn MK, Rice PA. Binding of complement factor H to loop 5 of porin protein 1a: a molecular mechanism of serum resistance of nonsialylated neisseria gonorrhoeae. J Exp Med. 1998; 188(4):671-680.10.1084/jem.188.4.67122133559705949Search in Google Scholar

Zipfel PF, Heinen S, Jozsi M, Skerka C. Complement and diseases: defective alternative pathway control results in kidney and eye diseases. Mol Immunol. 2006; 43(1-2): 97-106.10.1016/j.molimm.2005.06.01516026839Search in Google Scholar

Edwards AO, Ritter R, 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005; 308(5720): 421-424.10.1126/science.111018915761121Search in Google Scholar

Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to agerelated macular degeneration. Proc Natl Acad Sci USA. 2005; 102(20): 7227-7232.10.1073/pnas.0501536102108817115870199Search in Google Scholar

Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005; 308(5720): 419-421.10.1126/science.111035915761120Search in Google Scholar

Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science. 2005; 308(5720): 385-389.10.1126/science.1109557151252315761122Search in Google Scholar

Seitsonen S, Jarvela I, Meri S, Tommila P, Ranta P, Immonen I. Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degeneration lesions. Acta Ophthalmol. 2008; 86(4): 390-394.10.1111/j.1600-0420.2007.01050.x17995985Search in Google Scholar

Xu Y, Guan N, Xu J, Yang X, Ma K, Zhou H, Zhang F, Snellingen T, Jiao Y, Liu X, Wang N, Liu N. Association of CFH, loc387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern chinese population. Mol Vis. 2008; 28(14): 1373-1381.Search in Google Scholar

Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. Hypothetical loc387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005; 14(21): 3227-3236.10.1093/hmg/ddi35316174643Search in Google Scholar

Souied EH, Leveziel N, Richard F, Dragon-Durey MA, Coscas G, Soubrane G, Benlian P, Fremeaux-Bacchi V. Y402h complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis. 2005; 19(11): 1135-1140.Search in Google Scholar

Saunders RE, Goodship TH, Zipfel PF, Perkins SJ. An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. Hum Mutat. 2006; 27(1): 21-30.10.1002/humu.2026816281287Search in Google Scholar

Johnson PT, Betts KE, Radeke MJ, Hageman GS, Anderson DH, Johnson LV. Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. Proc Natl Acad Sci USA. 2006; 103(46): 17456-17461.10.1073/pnas.0606234103185995017079491Search in Google Scholar

Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3): 1215.10.1093/nar/16.3.12153347653344216Search in Google Scholar

Blackmore TK, Hellwage J, Sadlon TA, Higgs N, Zipfel PF, Ward HM, Gordon DL. Identification of the second heparin-binding domain in human complement factor H. J Immunol. 1998; 160(7): 3342-3348.10.4049/jimmunol.160.7.3342Search in Google Scholar

Gotoh N, Yamada R, Hiratani H, Renault V, Kuroiwa S, Monet M, Toyoda S, Chida S, Mandai M, Otani A, Yoshimura N, Matsuda F. No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Hum Genet. 2006; 120(1): 139-143.10.1007/s00439-006-0187-016710702Search in Google Scholar

Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, Ott J, Hoh J, Abecasis GR, Swaroop A. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet. 2005; 77(1): 149-153.10.1086/431426122618715895326Search in Google Scholar

Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Hum Mol Genet. 2003; 12(24): 3385-3395.10.1093/hmg/ddg36314583443Search in Google Scholar

Mori M, Yamada R, Kobayashi K, Kawaida R, Yamamoto K. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet. 2005; 50(5): 264-266.10.1007/s10038-005-0246-815883854Search in Google Scholar

Tsai HJ, Sun G, Weeks DE, Kaushal R, Wolujewicz M, McGarvey ST, Tufa J, Viali S, Deka R. Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association. Am J Hum Genet. 2001; 69(6): 1236-1244.10.1086/324646123553511704924Search in Google Scholar

Magnusson KP, Duan S, Sigurdsson H, Petursson H, Yang Z, Zhao Y, Bernstein PS, Ge J, Jonasson F, Stefansson E, Helgadottir G, Zabriskie NA, Jonsson T, Bjornsson A, Thorlacius T, Jonsson PV, Thorleifsson G, Kong A, Stefansson H, Zhang K, Stefansson K, Gulcher JR. CFH Y402H confers similar risk of soft drusen and both forms of advanced amd. PLoS Med. 2006; 3(1): e5.10.1371/journal.pmed.0030005128803316300415Search in Google Scholar

Conley YP, Thalamuthu A, Jakobsdottir J, Weeks DE, Mah T, Ferrell RE, Gorin MB. Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet. 2005; 14(14): 1991-2002.10.1093/hmg/ddi20415930014Search in Google Scholar

Marioli DI, Pharmakakis N, Deli A, Havvas I, Zarkadis IK. Complement factor H and loc387715 gene polymorphisms in a Greek population with age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol. 2009; 247(11): 1547-1553.10.1007/s00417-009-1129-z19568762Search in Google Scholar

Uka J, Tamura H, Kobayashi T, Yamane K, Kawakami H, Minamoto A, Mishima HK. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina. 2006; 26(9): 985-987.10.1097/01.iae.0000244068.18520.3e17151483Search in Google Scholar

ISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other