Extended haplotypes in the complement factor H (CFH) and CFH‐related (CFHR) family of genes protect against age‐related macular degeneration: Characterization, ethnic distribution and evolutionary implications

References

• Klein R., Peto T., Bird A., Vannewkirk M. R. The epidemiology of age‐related macular degeneration. Am J Ophthalmol 2004; 137: 486–95
   PubMed Web of Science ®Google Scholar
• van Leeuwen R., Klaver C. C., Vingerling J. R., Hofman A., de Jong P. T. Epidemiology of age‐related maculopathy: a review. Eur J Epidemiol 2003; 18: 845–54
   PubMed Web of Science ®Google Scholar
• Hageman G. S., Luthert P. J., Victor Chong N. H., Johnson L. V., Anderson D. H., Mullins R. F. An integrated hypothesis that considers drusen as biomarkers of immune‐mediated processes at the RPE‐Bruch's membrane interface in aging and age‐related macular degeneration. Prog Retin Eye Res 2001; 20: 705–32
   PubMed Web of Science ®Google Scholar
• Bok D. Evidence for an inflammatory process in age‐related macular degeneration gains new support. Proc Natl Acad Sci U S A 2005; 102: 7053–4
   PubMed Web of Science ®Google Scholar
• Anderson D., Mullins R., Hageman G., Johnson L. V. A role for local inflammation in the formation of drusen in the aging eye. Am J Ophthalmol 2002; 134: 411–31
   PubMed Web of Science ®Google Scholar
• Donoso L. A., 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
   PubMed Web of Science ®Google Scholar
• Sivaprasad S., Chong N. V. The complement system and age‐related macular degeneration. Eye 2006; 20: 867–72
   PubMed Web of Science ®Google Scholar
• Wiggs J. L. Complement factor H and macular degeneration: the genome yields an important clue. Arch Ophthalmol 2006; 124: 577–8
   PubMedGoogle Scholar
• Hageman G. S., Anderson D. H., Johnson L. V., Hancox L. S., Taiber A. J., Hardisty L. I., et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age‐related macular degeneration. Proc Natl Acad Sci U S A 2005; 102: 7227–32
   PubMed Web of Science ®Google Scholar
• Klein R. J., Zeiss C., Chew E. Y., Tsai J. Y., Sackler R. S., Haynes C., et al. Complement factor H polymorphism in age‐related macular degeneration. Science 2005; 308: 385–9
   PubMed Web of Science ®Google Scholar
• Haines J. L., Hauser M. A., Schmidt S., Scott W. K., Olson L. M., Gallins P., et al. Complement factor H variant increases the risk of age‐related macular degeneration. Science 2005; 308: 419–21
   PubMed Web of Science ®Google Scholar
• Edwards A. O., Ritter R 3rd., Abel K. J., Manning A., Panhuysen C., Farrer L. A. Complement factor H polymorphism and age‐related macular degeneration. Science 2005; 308: 421–4
   PubMed Web of Science ®Google Scholar
• Gold B., Merriam J. E., Zernant J., Hancox L. S., Taiber A. J., Gehrs K., et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age‐related macular degeneration. Nat Genet 2006; 38: 458–62
   PubMed Web of Science ®Google Scholar
• Thakkinstian A., Han P., McEvoy M., Smith W., Hoh J., Magnusson K., et al. Systematic review and meta‐analysis of the association between complementary factor H Y402H polymorphisms and age‐related macular degeneration. Hum Mol Genet 2006; 15: 2784–90
   PubMed Web of Science ®Google Scholar
• Li M., Atmaca‐Sonmez P., Othman M., Branham K. E., Khanna R., Wade M. S., et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age‐related macular degeneration. Nat Genet 2006; 38: 1049–54
   PubMed Web of Science ®Google Scholar
• Seddon J. M., George S., Rosner B., Klein M. L. CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age‐related macular degeneration. Hum Hered 2006; 61: 157–65
   PubMed Web of Science ®Google Scholar
• Despriet D. D., Klaver C. C., Witteman J. C., Bergen A. A., Kardys I., de Maat M. P., et al. Complement factor H polymorphism, complement activators, and risk of age‐related macular degeneration. JAMA 2006; 296: 301–9
   PubMed Web of Science ®Google Scholar
• Grassi M. A., Fingert J. H., Scheetz T. E., Roos B. R., Ritch R., West S. K., et al. Ethnic variation in AMD‐associated complement factor H polymorphism p.Tyr402His. Hum Mutat 2006; 27: 921–5
   PubMed Web of Science ®Google Scholar
• Kaur I., Hussain A., Hussain N., Das T., Pathangay A., Mathai A., et al. Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age‐related macular degeneration. Invest Ophthalmol Vis Sci 2006; 47: 3729–35
   PubMed Web of Science ®Google Scholar
• Postel E. A., Agarwal A., Caldwell J., Gallins P., Toth C., Schmidt S., et al. Complement factor H increases risk for atrophic age‐related macular degeneration. Ophthalmology 2006; 113: 1504–7
   PubMed Web of Science ®Google Scholar
• Schaumberg D. A., Christen W. G., Kozlowski P., Miller D. T., Ridker P. M., Zee R. Y. A prospective assessment of the Y402H variant in complement factor H, genetic variants in C‐reactive protein, and risk of age‐related macular degeneration. Invest Ophthalmol Vis Sci 2006; 47: 2336–40
   PubMed Web of Science ®Google Scholar
• Magnusson K. P., Duan S., Sigurdsson H., Petursson H., Yang Z., Zhao Y., et al. CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med 2006; 3: e5
   PubMed Web of Science ®Google Scholar
• Sepp T., Khan J. C., Thurlby D. A., Shahid H., Clayton D. G., Moore A. T., et al. Complement factor H 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
   PubMed Web of Science ®Google Scholar
• Souied E. H., Leveziel N., Richard F., Dragon‐Durey M. A., Coscas G., Soubrane G., et al. Y402H complement factor H polymorphism associated with exudative age‐related macular degeneration in the French population. Mol Vis 2005; 11: 1135–40
   PubMed Web of Science ®Google Scholar
• Zareparsi S., Branham K. E., Li M., Shah S., Klein R. J., Ott J., et al. 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
   PubMed Web of Science ®Google Scholar
• Maller J., George S., Purcell S., Fagerness J., Altshuler D., Daly M. J., et al. 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
   PubMed Web of Science ®Google Scholar
• Seitsonen S., Lemmela S., Holopainen J., Tommila P., Ranta P., Kotamies A., et al. Analysis of variants in the complement factor H, the elongation of very long chain fatty acids‐like 4 and the hemicentin 1 genes of age‐related macular degeneration in the Finnish population. Mol Vis 2006; 12: 796–801
   PubMed Web of Science ®Google Scholar
• Gotoh N., Yamada R., Hiratani H., Renault V., Kuroiwa S., Monet M., et al. No association between complement factor H gene polymorphism and exudative age‐related macular degeneration in Japanese. Hum Genet 2006; 120: 139–43
   PubMed Web of Science ®Google Scholar
• Okamoto H., Umeda S., Obazawa M., Minami M., Noda T., Mizota A., et al. Complement factor H polymorphisms in Japanese population with age‐related macular degeneration. Mol Vis 2006; 12: 156–8
   PubMed Web of Science ®Google Scholar
• Lau L. I., Chen S. J., Cheng C. Y., Yen M. Y., Lee F. L., Lin M. W., et al. 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
   PubMed Web of Science ®Google Scholar
• Sanchez‐Corral P., Perez‐Caballero D., Huarte O., Simckes A. M., Goicoechea E., Lopez‐Trascasa M., et al. Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. Am J Hum Genet 2002; 71: 1285–95
   PubMed Web of Science ®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: 355–67
   PubMed Web of Science ®Google Scholar
• Zipfel P. F., Skerka C., Hellwage J., Jokiranta S. T., Meri S., Brade V., et al. Factor H family proteins: on complement, microbes and human diseases. Biochem Soc Trans 2002; 30 Pt 6: 971–8
   Web of Science ®Google Scholar
• Jokiranta T. S., Jaakola V. P., Lehtinen M. J., Parepalo M., Meri S., Goldman A. Structure of complement factor H carboxyl‐terminus reveals molecular basis of atypical haemolytic uremic syndrome. EMBO J 2006; 25: 1784–94
   PubMed Web of Science ®Google Scholar
• Friese M. A., Hellwage J., Jokiranta T. S., Meri S., Peter H. H., Eibel H., et al. FHL‐1/reconectin and factor H: two human complement regulators which are encoded by the same gene are differently expressed and regulated. Mol Immunol 1999; 36: 809–18
   PubMed Web of Science ®Google Scholar
• Bird A. C., Bressler N. M., Bressler S. B., Chisholm I. H., Coscas G., Davis M. D., et al. An international classification and grading system for age‐related maculopathy and age‐related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol 1995; 39: 367–74
   PubMed Web of Science ®Google Scholar
• Klaver C. C., Assink J. J., van Leeuwen R., Wolfs R. C., Vingerling J. R., Stijnen T., et al. Incidence and progression rates of age‐related maculopathy: the Rotterdam Study. Invest Ophthalmol Vis Sci 2001; 42: 2237–41
   PubMed Web of Science ®Google Scholar
• Cann H. M., de Toma C., Cazes L., Legrand M. F., Morel V., Piouffre L., et al. A human genome diversity cell line panel. Science 2002; 296: 261–2
   PubMed Web of Science ®Google Scholar
• Stephens M., Scheet P. Accounting for decay of linkage disequilibrium in haplotype inference and missing‐data imputation. Am J Hum Genet 2005; 76: 449–62
   PubMed Web of Science ®Google Scholar
• Stephens M., Smith N. J., Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978–89
   PubMed Web of Science ®Google Scholar
• Bandelt H. J., Forster P., Sykes B. C., Richards M. B. Mitochondrial portraits of human populations using median networks. Genetics 1995; 141: 743–53
   PubMed Web of Science ®Google Scholar
• Bandelt H. J., Forster P., Rohl A. Median‐joining networks for inferring intraspecific phylogenies. Mol Biol Evol 1999; 16: 37–48
   PubMed Web of Science ®Google Scholar
• Forster P., Torroni A., Renfrew C., Rohl A. Phylogenetic star contraction applied to Asian and Papuan mtDNA evolution. Mol Biol Evol 2001; 18: 1864–81
   PubMed Web of Science ®Google Scholar
• Woo T. H., Patel B. K., Cinco M., Smythe L. D., Norris M. A., Symonds M. L., et al. Identification of Leptospira biflexa by real‐time homogeneous detection of rapid cycle PCR product. J Microbiol Methods 1999; 35: 23–30
   PubMed Web of Science ®Google Scholar
• Vandesompele J., De Preter K., Pattyn F., Poppe B., Van Roy N., De Paepe A., et al. Accurate normalization of real‐time quantitative RT‐PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002; 3: RESEARCH0034
   PubMed Web of Science ®Google Scholar
• Zipfel P. F., Skerka C. FHL‐1/reconectin: a human complement and immune regulator with cell‐adhesive function. Immunol Today 1999; 20: 135–40
   PubMedGoogle Scholar
• Klein R., Klein B. E., Knudtson M. D., Wong T. Y., Cotch M. F., Liu K., et al. Prevalence of age‐related macular degeneration in 4 racial/ethnic groups in the multi‐ethnic study of atherosclerosis. Ophthalmology 2006; 113: 373–80
   PubMed Web of Science ®Google Scholar
• Hughes A. E., Orr N., Esfandiary H., Diaz‐Torres M., Goodship T., Chakravarthy U. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age‐related macular degeneration. Nat Genet 2006; 38: 1173–7
   PubMed Web of Science ®Google Scholar
• Heinen S., Sanchez‐Corral P., Jackson M. S., Strain L., Goodship J. A., Kemp E. J., et al. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mutat 2006; 27: 292–3
   PubMedGoogle Scholar
• Feifel E., Prodinger W. M., Molgg M., Schwaeble W., Schonitzer D., Koistinen V., et al. Polymorphism and deficiency of human factor H‐related proteins p39 and p37. Immunogenetics 1992; 36: 104–9
   PubMed Web of Science ®Google Scholar
• McCarroll S. A., Hadnott T. N., Perry G. H., Sabeti P. C., Zody M. C., Barrett J. C., et al. Common deletion polymorphisms in the human genome. Nat Genet 2006; 38: 86–92
   PubMed Web of Science ®Google Scholar
• Conrad D. F., Andrews T. D., Carter N. P., Hurles M. E., Pritchard J. K. A high‐resolution survey of deletion polymorphism in the human genome. Nat Genet 2006; 38: 75–81
   PubMed Web of Science ®Google Scholar
• Oppermann M., Manuelian T., Jozsi M., Brandt E., Jokiranta T. S., Heinen S., et al. The C‐terminus of complement regulator Factor H mediates target recognition: evidence for a compact conformation of the native protein. Clin Exp Immunol 2006; 144: 342–52
   PubMed Web of Science ®Google Scholar
• Perez‐Caballero D., Gonzalez‐Rubio C., Gallardo M. E., Vera M., Lopez‐Trascasa M., Rodriguez de Cordoba S., et al. Clustering of missense mutations in the C‐terminal region of factor H in atypical hemolytic uremic syndrome. Am J Hum Genet 2001; 68: 478–84
   PubMed Web of Science ®Google Scholar
• Richards A., Buddles M. R., Donne R. L., Kaplan B. S., Kirk E., Venning M. C., et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18–20, a domain important for host cell recognition. Am J Hum Genet 2001; 68: 485–90
   PubMed Web of Science ®Google Scholar
• Saunders R. E., Goodship T. H., Zipfel P. F., Perkins S. J. 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: 21–30
   PubMed Web of Science ®Google Scholar
• Blackmore T. K., Fischetti V. A., Sadlon T. A., Ward H. M., Gordon D. L. M protein of the group A Streptococcus binds to the seventh short consensus repeat of human complement factor H. Infect Immun 1998; 66: 1427–31
   PubMed Web of Science ®Google Scholar
• Hellwage J., Jokiranta T. S., Koistinen V., Vaarala O., Meri S., Zipfel P. F. Functional properties of complement factor H‐related proteins FHR‐3 and FHR‐4: binding to the C3d region of C3b and differential regulation by heparin. FEBS Lett 1999; 462: 345–52
   PubMed Web of Science ®Google Scholar
• Appel G. B., Cook H. T., Hageman G., Jennette J. C., Kashgarian M., Kirschfink M., et al. Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease): An Update. J Am Soc Nephrol 2005; 16: 1392–403
   PubMed Web of Science ®Google Scholar
• Abrera‐Abeleda M. A., Nishimura C., Smith J. L., Sethi S., McRae J. L., Murphy B. F., et al. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet 2006; 43: 582–9
   PubMed Web of Science ®Google Scholar