COMPLEMENT FACTOR H Y403H POLYMORPHISM IN THE TURKISH POPULATION
Yunus Arikan Y, Türker Bilgen T, Ibrahim Keser I,
*Corresponding Author: Ibrahim Keser, Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, TR-07059, Antalya, Turkey; Tel.:+90-242-249-6973; Fax:+90- 242-227-4495; E-mail: keser@akdeniz.edu.tr
page: 41

REFERENCES

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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. 11. 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. 12. 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. 13. 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. 14. 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. 15. 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. 16. 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. 17. 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. 18. 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. 19. 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. 20. 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. 21. 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. 22. 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. 23. 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. 24. 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. 25. 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. 26. 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. 27. 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. 28. 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. 29. 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.



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