
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
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REFERENCES
1. 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): 1573-1594.
2. 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.
3. 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.
4. 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.
5. 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. 6. Pangburn MK, Atkinson MA, Meri S.
Localization of the heparin-binding site on
complement factor H. J Biol Chem. 1991; 266(25):
16847-16853.
7. 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.
8. 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.
9. 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. 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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