Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population

Molecular Vision

Volumn 14, Issue , 2008, Pages 1373-1381

  Xu, Yule ^a   Guan, Ning ^a   Xu, Jun ^a   Yang, Xiufen ^a   Ma, Kai ^a   Zhou, Haiying ^a   Zhang, Feng ^a   Snellingen, Torkel ^b   Jiao, Yiqun ^b   Liu, Xipu ^b   Wang, Ningli ^a   Liu, Ningpu ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b Sekwa Eye Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; GENOMIC DNA; HTRA1 PROTEIN; LOC387715 PROTEIN; MITOCHONDRIAL PROTEIN; SERINE PROTEINASE;

ADULT; AGED; ARTICLE; CHINA; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION MAPPING; RETINA MACULA AGE RELATED DEGENERATION; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CASE-CONTROL STUDIES; CHINA; COMPLEMENT FACTOR H; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SERINE ENDOPEPTIDASES;

EID: 48749085658     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Friedman DS, O'Colmain BJ, Munoz B, Tomany SC, McCarty C, de Jong PT, Nemesure B, Mitchell P, Kempen J. Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 2004; 122:564-72.
2. Bird AC. The Bowman lecture. Towards an understanding of age-related macular disease. Eye 2003; 17:457-66.
3. Xu L, Wang Y, Li Y, Wang Y, Cui T, Li J, Jonas JB: Causes of blindness and visual impairment in urban and rural areas in Beijing: the Beijing Eye Study. Ophthalmology 2006; 113:1134 e1131-1111.
4. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997; 277:1805-7.
5. Klaver CC, Kliffen M, van Duijn CM, Hofman A, Cruts M, Grobbee DE, van Broeckhoven C, de Jong PT. Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 1998; 63:200-6.
6. Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 2004; 351:346-53.
7. Smith W, Assink J, Klein R, Mitchell P, Klaver CC, Klein BE, Hofman A, Jensen S, Wang JJ, de Jong PT. Risk factors for age-related macular degeneration: Pooled findings from three continents. Ophthalmology 2001; 108:697-704.
8. Tomany SC, Wang JJ, Van Leeuwen R, Klein R, Mitchell P, Vingerling JR, Klein BE, Smith W, De Jong PT. Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophthalmology 2004; 111:1280-7.
9. Chakravarthy U, Augood C, Bentham GC, de Jong PT, Rahu M, Seland J, Soubrane G, Tomazzoli L, Topouzis F, Vingerling JR, Vioque J, Young IS, Fletcher AE. Cigarette smoking and age-related macular degeneration in the EUREYE Study. Ophthalmology 2007; 114:1157-63.
10. Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, Trzupek K, Weleber RG, Ott J, Wirtz W Acott TS. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 1998; 116:1082-8.
11. Kenealy SJ, Schmidt S, Agarwal A, Postel EA, De La Paz MA, Pericak-Vance MA, Haines JL. Linkage analysis for age-related macular degeneration supports a gene on chromosome 1Oq26. Mol Vis 2004; 10:57-61.
12. Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt S, Haines JL, Pericak-Vance MA, Gorin MB, Schulz HL, Pardi F, Lewis CM, Weber BH. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 2005; 14:2257-64.
13. Weeks DE, Conley YP, Tsai HJ, Mab TS, Schmidt S, Postel EA, Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 1Oq26, and 17q25 regions. Am J Hum Genet 2004; 75:174-89.
14. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 1Oq26. Am J Hum Genet 2005; 77:389-407.
15. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 2005; 308:421-4.
16. 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; 308:385-9.
17. 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; 308:419-21.
18. 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; 77:149-53.
19. 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 AY, 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 age-related macular degeneration. Proc Natl Acad Sci USA 2005; 102:7227-32.
20. Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR. Complement factor 14 variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci 2006; 47:536-40.
21. 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 Frehch population. Mol Vis 2005; 11: 1135-40.
22. Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, Wade MS, Li Y, Liang L, Zareparsi S, Swaroop A, Abecasis GR. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 2006; 38:1049-54.
23. Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly MJ, Seddon JM. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet 2006; 38:1055-9.
24. 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; 14:3227-36.
25. Schmidt S, Hauser MA, Scott WK, Postel EA, Agarwal A, Gallins P, Wong F, Chen YS, Spencer K, Schnetz-Boutaud N, Haines JL, Pericak-Vance MA. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet 2006; 78:852-64.
26. Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 2006; 314:989-92.
27. Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, Chen H, Zhao Y, Pearson E, Li X, Chien J, Dewan A, Harmon J, Bernstein PS, Shridhar V, Zabriskie NA, Hoh J, Howes K, Zhang K. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 2006; 314:992-3.
28. Barrett JC, Fry B, Maller J, Daly MJ, Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-5.
29. Woolf B. On estimating the relation between blood group and disease. Ann Hum Genet 1955; 19:251-3.
30. Chen LJ, Liu DT, Tam PO, Chan WM, Liu K, Chong KK, Lam DS, Pang CP. Association of complement factor H polymorphisms with exudative age-related macular degeneration. Mol Vis 2006; 12:1536-42.
31. Lau LI, Chen SJ, Cheng CY, Yen MY, Lee FL, Lin MW, Hsu WM, Wei YH. Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. Invest Ophthalmol Vis Sci 2006; 47:3242-6.
32. 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; 120:139-43.
33. Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T, Tamai M. Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. Am J Ophthalmol 2006; 142:1074-6.
34. Okamoto H, Umeda S, Obazawa M, Minami M, Noda T, Mizota A, Honda M, Tanaka M, Koyama R, Takagi I, Sakamoto Y, Saito Y, Miyake Y, Iwata T. Complement factor H polymorphisms in Japanese population with age-related macular degeneration. Mol Vis 2006; 12:156-8.
35. 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; 26:985-7.
36. Grassi MA, Fingert JH, Scheetz TE, Roos BR, Ritch R, West SK, Kawase K, Shire AM, Mullins RF, Stone EM. Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Hum Mutat 2006; 27:921-5.
37. Donoso LA, Kim D, Frost A, Callahan A, Hageman G. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol 2006; 51:137-52.
38. Laine M, Jarva H, Seitsonen S, Haapasalo K, Lehtinen MJ, Lindeman N, Anderson DH, Johnson PT, Jarvela I, Jokiranta TS, Hageman GS, Immonen I, Meri S. Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. J Immunol 2007; 178:3831-6.
39. 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:e5(109-114).
40. Li Y, Xu L, Jonas JB, Yang H, Ma Y, Li J. Prevalence of age-related maculopathy in the adult population in China: the Beijing eye study. Am J Ophthalmol 2006; 142:788-93.
41. Xu L, Li Y, Zheng Y, Jonas JB. Associated factors for age related maculopathy in the adult population in China: the Beijing eye study. Br J Ophthalmol 2006; 90:1087-90.
42. Oshima. Y, Ishibashi T, Murata T, Tahara Y, Kiyohara Y, Kubota T. Prevalence of age related maculopathy in a representative Japanese population: the Hisayama study. Br J Ophthalmol 2001; 85:1153-7.
43. Maruko I, Iida T, Saito M, Nagayama D, Saito K. Clinical characteristics of exudative age-related macular degeneration in Japanese patients. Am J Ophthalmol 2007; 144:15-22.
44. Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000; 26:163-75.
45. 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; 69:1236-44.
46. Mori M, Yamada R, Kobayashi K, Kawaida R, Yamamoto K. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet 2005; 50:264-6.
47. Ross RJ, Bojanowski CM, Wang JJ, Chew EY, Rochtchina E, Ferris FL 3rd, Mitchell P, Chan CC, Tuo J. The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples. Invest Ophthalmol Vis Sci 2007; 48:1128-32.
48. Wang JJ, Ross RJ, Tuo J, Burlutsky G, Tan AG, Chan CC, Favaloro EJ, Williams A, Mitchell P. The LOC387715 Polymorphism, Inflammatory Markers, Smoking, and Age-Related Macular Degeneration A Population-Based Case-Control Study. Ophthalmology 2007.
49. Weger M, Renner W, Steinbrugger I, Kofer K, Wedrich A, Groselj-Strele A, El-Shabrawi Y, Schmut O, Haas A. Association of the HTRA1 -625G>A promoter gene polymorphism with exudative age-related macular degeneration in a Central European population. Mol Vis 2007; 13:1274-9.
50. Mori K, Horie-Inoue K, Kohda M, Kawasaki I, Gehlbach PL, Awata T, Yoneya S, Okazaki Y, Inoue S. Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population. J Hum Genet 2007; 52:636-41.
51. Tanimoto S, Tamura H, Ue T, Yamane K, Maruyama H, Kawakami H, Kiuchi Y. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. Neurosci Lett 2007; 414:71-4.
52. Yoshida T, DeWan A, Zhang H, Sakamoto R, Okamoto H, Minami M, Obazawa M, Mizota A, Tanaka M, Saito Y, Takagi I, Hoh J, Iwata T. HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration. Mol Vis 2007; 13:545-8.
53. Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A. A variant of mitochondrial protein LOC387715/ ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 2007; 104:16227-32.