Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S polymorphisms in a Turkish population

DNA and Cell Biology

Volumn 31, Issue 3, 2012, Pages 322-329

  Soysal, Yasemin ^a   Inan, Ümit Übeyt ^a   Küsbeci, Tuncay ^a   Imirzalioǧlu, Necat ^a  

^a AFYON KOCATEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; GENOMIC DNA; HIGH TEMPERATURE REQUIREMENT A 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ARMS2 PROTEIN, HUMAN; COMPLEMENT FACTOR H, HUMAN;

AGED; ALLELE; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA MACULA AGE RELATED DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC); GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; RETINA MACULA DEGENERATION;

AGED; AGED, 80 AND OVER; ALLELES; BASE SEQUENCE; COMPLEMENT FACTOR H; FEMALE; GENETICS, POPULATION; GENOTYPE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; TURKEY;

EID: 84858139400     PISSN: 10445498     EISSN: 15577430     Source Type: Journal    
DOI: 10.1089/dna.2011.1214     Document Type: Article

References (43)

1. Baird, P.N., Islam, F.M.A., Richardson, A.J., Cain, M., Hunt, N., and Guymer, R. (2006). Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci 47, 4194-4198. (Pubitemid 46591223)
2. Bergeron-Sawitzke, J., Gold, B., Olsh, A., Schlotterbeck, S., Lemon, K., Visvanathan, K., Allikmets, R., and Dean, M. (2009). Multilocus analysis of age-related macular degeneration. Eur J Hum Genet 17, 1190-1199.
3. Chu, J., Zhou, C.C., Lu, N., Zhang, X., and Dong, F.T. (2008). Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population. Chin Med J 121, 2525-2533.
4. Conley, Y.P., Thalamuthu, A., Jakobsdottir, J., Weeks, D.E., Mah, T., Ferrell, R.E., and Gorin, M.B. (2005). Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in etiology of age-related maculopathy. Hum Mol Genet 14, 1991-2002. (Pubitemid 41418035)
5. Dewan, A., Liu, M., Hartman, S., Zhang, S.S., Liu, D.T., Zhao, C., Tam, P.O., Chan, W.M., Lam, D.S., Snyder, M., Barnstable, C., Pang, C.P., and Hoh, J. (2006). HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314, 989-992. (Pubitemid 44749943)
6. Fisher, S.A., Abecasis, G.R., Yashar, B.M., Zareparsi, S., Swaroop, A., Iyengar, S.K., Klein, B.E., et al. (2005). Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14, 2257-2264. (Pubitemid 41418025)
7. Foster, A. (2000). Vision 2020: the cataract challenge. J Comm Eye Health 13, 17-19. (Pubitemid 30637535)
8. Frank, R.N., Puklin, J.E., Stock, C., and Canter, L.A. (2000). Race, iris color, and age-related macular degeneration. Trans Am Ophthalmol Soc 98, 109-117. (Pubitemid 32059498)
9. Gauderman, W.J., and Morrison, J.M. (2006). QUANTO 1.1: a computer program for power and sample size calculations for genetic-epidemiology studies. Available at http://hydra.usc .edu/gxe. Accessed June 10, 2011.
10. Gotoh, N., Yamada, R., Hiratani, H., Renault, V., Kuroiwa, S., Monet, M., Toyoda, S., Chida, S., Mandai, M., Otani, A., Yoshimura, N., and Matsuda, F. (2006). No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Hum Genet 120, 139-143.
11. Hageman, G.S., Anderson, D.H., Johnson, L.V., Hancox, L.S., Taiber, A.J., Hardisty, T.I., Hageman, J.L., Stockman, H.A., Borchardt, J.D., Gehrs, K.M., Smith, R.J., Silverstri, G., Russel, S.R., Klaver, C.C., Barbazetto, I., Chang, S., Yannuzzi, L.A., Barile, G.R., Merriam, J.C., Smith, R.T., Olsh, R.T., Bergeron, J., Zernant, J., Merriam, J.E., Gold, B., Dean, M., and Allikmets, R. (2005). A common haplotype in the complement regulatory gene factor H (HF1/CFH) predispose individuals to age-related macular degeneration. Proc Natl Acad Sci USA 102, 7227-7232. (Pubitemid 40696361)
12. Hageman, G.S., Luthert, P.J, Victor Chong, N.H., Johnson, L.V., Anderson, D.H., and Mullins, R.F. (2001). An integratedhypothesis that considers drusen as biomarkers of immunemediated processes at the RPE-bruch's membrane interface in aging and age-related macular degeneration. Prog Retin Eye Res 20, 705-732. (Pubitemid 32918285)
13. Haines, J.L., Hauser, M.A., Schmidt, S., Scott, W.K., Olson, L.M., Gallins, P., Spencer, K.L., Kwan, S.Y., Noureddine, M., Gilbert, J.R., Schnetz-Boutaud, N., Agarwal, A., Postel, E.A., and Pericak-Vance, M.A. (2005). Complement factor H variant inreases the risk of age-related macular degeneration. Science 308, 419-421. (Pubitemid 40530081)
14. Hughes, A.E, Orr, N., Patterson, C., Esfandiary, H., Hogg, R., McConnell, V., Silvestri, G., and Chakravarthy, U. (2007). Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PLoS Med 4, e355.
15. Jiang, H., Qu, Y., Dang, G., Zhang, X., Yin, N., Zhang, Y., Bi, H., Pan, X., Xu, X., Zhou, F., and Dai, H. (2009). Analysis of single nucleotide polymorphisms and haplotype linkage of LOC387715 and the HTRA1 gene in exudative age-related macular degeneration in a Chinese cohort. Retina 29, 974-979.
16. Katta, S., Kaur, I., and Chakrabarti, S. (2009). The molecular genetic basis of age-related macular degeneration: an overview. J Genet 88, 425-449.
17. Klaver, C.C., Wolfs, R.C., Assink, J.J., van Duijin, C.M., Hofman, A., and de Jong, P.T. (1998). Genetic risk of age-related maculopathy. Population based familial aggregation study. Arch Ophthalmol 116, 1646-1651. (Pubitemid 29001964)
18. Klein, R.J., Zeiss, C., Chew, E.Y., Tsai, J.Y., Sackler, R.S., Haynes, C., Henning, A.K., SanGiovanni, J.P., Mane, S.M., Mayne, S.T., et al. (2005). Complement factor H polymorphism in agerelated macular degeneration. Science 308, 385-389. (Pubitemid 40530070)
19. Lau, L-I., Chen, S-J., Cheng, C-Y., Yen, M-Y., Lee, F-L., Lin, MW., Hsu, W-M., and Wei, Y-H. (2006). Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. Invest Ophthalmol Vis Sci 47, 3242-3246. (Pubitemid 351639682)
20. Lee, W.C. (2003). Searching for disease-susceptibility loci by testing for Hardy-Weinberg disequilibrium in a gene bank of affected individuals. Am J Epidemiol 158, 397-400.
21. Liutkeviciene, R., Lesauskaite, V., Asmoniene, V., Zaliü niene, D., and Jasinskas, V. (2010). Factors determining age-related macular degeneration: a current view. Medicina (Kaunas) 46, 89-94.
22. Magnusson, K.P., Duan, S., Sigurdsson, H., Petursson, H., Yang, Z., Zhao, Y., Bernstein, P.S., Ge, J., Jonasson, F., Stefansson, E., Helgadottir, G., Zabriskie, N.A., Jonsson, T., Bjö rnsson, A., Thorlacius, T., Jonsson, P.V., Thorleifsson, G., Kong, A., Stefansson, H., Zhang, K., Stefansson, K., and Gulcher, J.R. (2006). CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med 3, e5.
23. Penfold, P.L., Madigan, M.C., Gillies, M.C., and Provis, J.M. (2001). Immunological and aetiological aspects of macular degeneration. Prog Retin Eye Res 20, 385-414. (Pubitemid 32245687)
24. Postel, E.A., Agarwal, A., Caldwell, J., Gallins, P., Toth, C., Schmidt, S., Scott, W.K., Hauser, M.A., Haines, J.L., and Pericak-Vance, M.A. (2006). Complement factor H icreases risk for atrophic age-related macular degeneration. Ophthalmology 113, 1504-1507. (Pubitemid 44292298)
25. Postel, E.A., Agarwal, A., Schmidt, S., Fan, Y.T., Scott, W.K., Gilbert, J.R., Haines, J.L., and Pericak-Vance, M.A. (2005). Comparing age related macular degeneration phenotype in probands from singleton amd multiplex families. Am J Ophthalmol 139, 820-825. (Pubitemid 40614767)
26. Pulido, J.S., Peterson, L.M., Mutapcic, L., Bryant, S., and Highsmith, W.E. (2007). LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic. Ophtalmic Genet 28, 203-207.
27. Rivera, A., Fisher, S.A., Fritsche, L.G., Keilhauer, C.N., Lichtner, P., Meitinger, T., and Weber, B.H.F. (2005). Hypothetical LOC387715 is a second major susceptibility gene for agerelated macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet 14, 3227-3236. (Pubitemid 41631297)
28. Ross, R.J., Bojanowski, C.M., Wang, J.J., Chew, E.Y., Rochtchina, E., Ferris, F.L., Mitchell, P., Chan, C.C., and Tuo, J. (2007). The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples. Invest Ophthalmol Vis Sci 48, 1128-1132. (Pubitemid 351261406)
29. Schmidt, S., Hauser, M.A., Scott, W.K., Postel, E.A., Agarwal, A., Gallins, P., Wong, F., Chen, Y.S., Spencer, K., Schnetz-Boutaud, N., Haines, J.L., and Pericak-Vance, M.A. (2006). Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet 78, 852-864.
30. Scholl, H.P., Fleckenstein, M., Issa, P.C., Keilhauer, C., Holz, F.G., and Weber, H.F. (2007). An update on the genetics of age-related macular degeneration. Mol Vis 13, 196-205. (Pubitemid 46232110)
31. Seddon, J.M., Ajani, U.A., and Mitchell, B.D. (1997). Familial aggregation of age-related maculopathy. Am J Ophthalmol 123, 199-206. (Pubitemid 27066775)
32. Seddon, J.M., Francis, P.J., George, S., Schultz, D.W., Rosner, B., and Klein, M.L. (2007). Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA 297, 1793-1800. (Pubitemid 46658648)
33. Seitsonen, S.P., Onkamo, P., Peng, G., Xiong, M., Tommila, P.V., Ranta, P.H., Holopainen, J.M., Moilanen, J.A., Palosaari, T., Kaarniranta, K., Meri, S., Immonen, I.R., and Jarvela, I.E. (2008). Multifactor effects and evidence of potential interection between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration. PLoS One 3, e3833.
34. Sepp, T., Khan, J.C., Thurlby, D.A., Shahid, H., Clayton, D.G., Moore, A.T., Bird, A.C., and Yates, J.R. (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. (Pubitemid 46768378)
35. Shuler, R.K., Hauser, M.A., Caldwell, J., Gallins, P., Schmidt, S., Scott, W.K., Agarwal, A., Haines, J.L., Pericak-Vance, M.A., and Postel, E.A. (2007). Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Arch Ophthalmol 125, 63-67. (Pubitemid 46072377)
36. Simonelli, F., Friso, G., Testa, F., Di Fiore, R., Vitale, D.F., Manitto, M.P., Brancato, R., Rinaldi, E., and Sacchetti, L. (2006). Polymorphism p.402Y >H in the complement factor H protein is a risk factor for age related macular degeneration in an aItalian population. Br J Ophthalmol 90, 1142-1145. (Pubitemid 44351146)
37. Souied, E.H., Leveziel, N., Richard, F., Dragon-Durey, M.A., Coscas, G., Soubrane, G., Benlian, P., and Fremeaux-Bacchi, V. (2005). Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis 11, 1135-1140. (Pubitemid 43040543)
38. Tedeschi-Blok, N., Buckley, J., Varma, R., Triche, T.J., and Hinton, D.R. (2007). Population-based study of early age-related macular degeneration. Ophthalmology 114, 99-103.
39. Varma, R., Fraser-Bell, S., Tan, S., Klein, R., and Azen, S.P. (2004). Los Angles eye study group. Prevalence of age-related macular degeneration in Latinos. The Los Angles Latino eye study. Ophthalmology 111, 1288-1297. (Pubitemid 38844823)
40. Weiter, J.J., Delori, F.C., Wing, G.L., and Fith, K.A. (1986). Retinal pigment epithelial lipofuscin and melanin choroidalmelanin in human eyes. Invest Ophthalmol Vis Sci 27, 145-152. (Pubitemid 16129780)
41. Yoshida, T., De Wan, A., Zhang, H., Sakamoto, R., Okamoto, H., Minami, M., Obazawa, M., Mizota, A., Tanaka, M., Saito, Y., Takagi, I., Hoh, J., and Iwata, T. (2007). HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration. Mol Vis 13, 545-548. (Pubitemid 46547166)
42. Yoshimura, N. (2010). Age-related macular degeneration and genetics. Clin Exp Ophthalmol 38, 1.
43. Zareparsi, S., Branham, K.E., Li, M., Shah, S., Klein, R.J., Ott, J., Hoh, J., Abecasis, G.R., and Swaroop, A. (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. (Pubitemid 40848046)