Association between CFH Y402H Polymorphism and Age Related Macular Degeneration in North Indian Cohort

PLoS ONE

Volumn 8, Issue 7, 2013, Pages

  Sharma, Neel Kamal ^a   Gupta, Amod ^a   Prabhakar, Sudesh ^a   Singh, Ramandeep ^a   Sharma, Suresh Kumar ^b   Chen, Wei ^c   Anand, Akshay ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^b PANJAB UNIVERSITY   (India)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H;

ADULT; ARTICLE; COMPLEMENT BLOOD LEVEL; COMPLEMENT FACTOR H GENE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; INDIAN; MAJOR CLINICAL STUDY; MALE; REAL TIME POLYMERASE CHAIN REACTION; RETINA MACULA AGE RELATED DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; ALLELES; COMPLEMENT FACTOR H; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INDIA; MACULAR DEGENERATION; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84880804509     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0070193     Document Type: Article

References (44)

1. Friedman DS, O'Colmain BJ, Munoz B, Tomany SC, McCarty C, et al. (2004) Prevalence of age-related macular degeneration in the United States. Arch Ophthalmol 122: 564-72.
2. Sharma NK, Gupta A, Prabhakar S, Singh R, Bhatt AK, et al. (2013) CC chemokine receptor-3 as new target for age-related macular degeneration. Gene 523: 106-111.
3. VanNewkirk MR, Nanjan MB, Wang JJ, Mitchell P, Taylor HR, et al. (2000) The prevalence of age-related maculopathy: the visual impairment project. Ophthalmology 107: 1593-1600.
4. Nirmalan PK, Katz J, Robin AL, Tielsch JM, Namperumalsamy P, et al. (2004) Prevalence of vitreoretinal disorders in a rural population of Southern India: The Aravind Comprehensive Eye Survey. Arch Ophthalmol 122: 581-586.
5. Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, et al. (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: 149-53.
6. Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, et al. (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: 536-40.
7. Goverdhan SV, Hannan S, Newsom RB, Luff AJ, Griffiths H, et al. (2008) An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment. Eye 22: 849-854.
8. Kaur I, Hussain A, Hussain N, Das T, Pathangay A, et al. (2006) 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. IOVS 47: 3729-3735.
9. Mandal MN, Ayyagari R, (2006) Complement factor H: spatial and temporal expression and localization in the eye. Invest Ophthalmol Vis Sci 47: 4091-4097.
10. Skerka C, Lauer N, Weinberger AA, Keilhauer CN, Suhnel J, et al. (2007) Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. Mol Immunol 44: 3398-3406.
11. Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, et al. (2006) 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. Ann Med 38(8): 592-604.
12. Nozaki M, Raisler BJ, Sakurai E, Sarma JV, Barnum SR, et al. (2006) Drusen complement components C3a and C5a promote choroidal neovascularization. Proc Natl Acad Sci USA 103: 2328-2333.
13. Heinen S, Hartmann A, Lauer A, Wiehl U, Dahse HM, et al. (2009) Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation. Blood 114: 2439-2447.
14. Abdelsalam A, Del Priore L, Zarbin MA, (1999) Drusen in age-related macular degeneration: pathogenesis, natural course, and laser photocoagulation-induced regression. Surv Ophthalmol 44: 1-29.
15. Sharma NK, Gupta A, Prabhakar S, Singh R, Sharma S, et al. (2012) Single Nucleotide Polymorphism and Serum Levels Of VEGFR2 are Associated With Age Related Macular Degeneration. Curr Neurovasc Res 9(4): 256-65.
16. Sharma NK, Prabhakar S, Gupta A, Singh R, Gupta PK, et al. (2012) New Biomarker for Neovascular Age Related Macular Degeneration: Eotaxin-2. DNA Cell Biol 31: 1618-1627.
17. Anand A, Sharma NK, Prabhakar S, Sharma S, Gupta A, et al. (2012) Single Nucleotide Polymorphisms in MCP-1 and its Receptor are associated with the risk of Age Related Macular Degeneration. PLoS ONE 7(11): e49905.
18. Palmer TM, Sterne JAC, Harbord RM, Lawlor DA, Sheehan NA, et al. (2011) Instrumental Variable Estimation of Causal Risk Ratios and Causal Odds Ratios in Mendelian Randomization Analyses. American Journal of Epidemiology 173: 1392-1403.
19. Smith GD, Timpson N, Ebrahim S, (2008) Strengthening causal inference in cardiovascular epidemiology through Mendelian randomization. Annals of Medicine 40: 524-541.
20. Fisher SA, Rivera A, Fritsche LG, Babadjanova G, Petrov S, et al. (2007) Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. Br J Ophthalmol 91: 576-8.
21. Thakkinstian A, Han P, McEvoy M, Smith W, Hoh J, et al. (2006) Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet 15: 2784-2790.
22. Simonelli F, Frisso G, Testa F, di Fiore R, Vitale DF, et al. (2006) Polymorphism p. 402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population. Br J Ophthalmol 90: 1142-5.
23. Lau LI, Chen SJ, Cheng CY, Yen MY, Lee FL, et al. (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: 3242-6.
24. Fuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, et al. (2006) Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with drytype age-related macular degeneration. Am J Ophthalmol 142: 1074-6.
25. Uka J, Tamura H, Kobayashi T, Yamane K, Kawakami H, et al. (2006) No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population. Retina 26: 985-7.
26. Dhillon B, Wright AF, Tufail A, Pappworth I, Hayward C, et al. (2010) Complement factor h autoantibodies and age-related macular degeneration. Invest Ophthalmol Vis Sci 51(11): 5858-63.
27. Greenfield JR, Samaras K, Jenkins AB, Kelly PJ, Spector TD, et al. (2004) Do gene-environment interactions influence fasting plasma lipids? A study of twins. Eur J Clin Invest 34: 590-8.
28. Wener MH, Daum PR, Mcquillan GM, (2000) The influence of age, sex, and race on the upper reference limit of serum C-reactive protein concentration. J Rheumatol 27: 2351-9.
29. Silva AS, Teixeira AG, Bavia L, Lin F, Velletri R, et al. (2012) Plasma levels of complement proteins from the alternative pathway in patients with age-related macular degeneration are independent of Complement Factor H Tyr402His polymorphism. Molecular Vision 18: 2288-2299.
30. Johnson PT, Betts KE, Radeke MJ, Hageman GS, Anderson DH, et al. (2006) 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 U S A 103: 17456-61.
31. Conley YP, Thalamuthu A, Jakobsdottir J, Weeks DE, Mah T, et al. (2005) Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the aetiology of age-related maculopathy. Hum Mol Genet 14: 1991-2002.
32. Baird PN, Islam FM, Richardson AJ, Cain M, Hunt N, et al. (2006) Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci 47: 4194-8.
33. Scott WK, Schmidt S, Hauser MA, Gallins P, Schnetz-Boutaud N, et al. (2007) Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular Degeneration. Ophthalmology 114: 1151-6.
34. Postel EA, Agarwal A, Caldwell J, Gallins P, Toth C, et al. (2006) Complement factor H increases risk for atrophic age-related macular degeneration. Ophthalmology 113: 1504-7.
35. Shuler RK, Hauser MA, Caldwell J, Gallins P, Schmidt S, et al. (2007) Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Arch Ophthalmol 125: 63-7.
36. Despriet DD, Klaver CC, Witteman JC, Bergen AA, Kardys I, et al. (2006) Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 296: 301-9.
37. Hu CC, Ho JD, Lin HC, (2010) Neovascular Age-Related Macular Degeneration and the Risk of Stroke: A 5 Year Population-Based Follow-Up Study. Stroke 41: 613-617.
38. Brody BL, Gamst AC, Williams RA, Smith AR, Lau PW, et al. (2011) Depression, visual acuity, comorbidity, and disability associated with age-related macular degeneration. American Academy of Ophthalmology 108: 1893-1900.
39. Kornsteiner M, Singer I, Elmadfa I, (2008) Very low n-3 long-chain polyunsaturated fatty acid status in Austrian vegetarians and vegans. Ann Nutr Metab 52: 37-47.
40. Chong EW, Kreis AJ, Wong TY, Simpson JA, Guymer RH, (2008) Dietary omega-3 fatty acid and fish intake in the primary prevention of age-related macular degeneration: a systematic review and meta-analysis. Arch Ophthalmol 126: 826-33.
41. Seddon JM, George S, Rosner B, (2006) Cigarette smoking, fish consumption, omega-3 fatty acid Intake, and associations with age-related macular degeneration. Arch Ophthalmol 124(7): 995.
42. SanGiovanni JP, Chew EY, Agron E, Clemons TE, Ferris FL, et al. (2008) The Relationship of Dietary ω-3 long-chain polyunsaturated fatty acid Intake with incident age-related macular degeneration. Arch Ophthalmol 126(9): 1274-1279.
43. Hodge WG, Schachter HM, Barnes D, Pan Y, Lowcock EC, et al. (2006) Efficacy of omega-3 fatty acids in preventing age-related macular degeneration: a systematic review. Ophthalmology 113(7): 1165-1172.
44. Chong EW, Kreis AJ, Wong TY, Simpson JA, Guymer RH, (2008) Dietary omega-3 fatty acid and fish intake in the primary prevention of age-related macular degeneration: a systematic review and meta-analysis. Arch Ophthalmol 126(6): 826-833.