Prospective study of common variants in CX3CR1 and risk of macular degeneration: Pooled analysis from 5 long-term studies

JAMA Ophthalmology

Volumn 132, Issue 1, 2014, Pages 84-95

  Schaumberg, Debra A ^a,b,c,d   Rose, Lynda ^a   DeAngelis, Margaret M ^d   Semba, Richard D ^e   Hageman, Gregory S ^d   Chasman, Daniel I ^a   Hyman, Leslie ^f  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b SCHEPENS EYE RESEARCH INSTITUTE   (United States)

^c HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f Moran Center for Translational Medicine ^*

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE RECEPTOR CX3CR1; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; OMEGA 3 FATTY ACID;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DIETARY INTAKE; DISEASE COURSE; EXPLORATORY RESEARCH; EXUDATIVE MACULAR DEGENERATION; FEMALE; FOLLOW UP; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC VARIABILITY; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; LONG TERM CARE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; OBESITY; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; PROMOTER REGION; PROSPECTIVE STUDY; RETINA MACULA AGE RELATED DEGENERATION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING;

ALLELES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 3; COMPLEMENT C3; COMPLEMENT FACTOR H; DIETARY FATS, UNSATURATED; DOUBLE-BLIND METHOD; FATTY ACIDS, OMEGA-3; FEMALE; FOLLOW-UP STUDIES; GENE-ENVIRONMENT INTERACTION; GENOTYPE; HEALTH PERSONNEL; HUMANS; INCIDENCE; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; PROTEINS; RECEPTORS, CHEMOKINE; RISK FACTORS; WET MACULAR DEGENERATION;

EID: 84892702652     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.5506     Document Type: Article

References (55)

1. Congdon N, O'Colmain B, Klaver CC, et al; Eye Diseases Prevalence Research Group. Causes and prevalence of visual impairment among adults in the United States. Arch Ophthalmol. 2004;122(4):477-485. (Pubitemid 38456282)
2. Schaumberg DA, Hankinson SE, Guo Q, Rimm E, Hunter DJ. A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol. 2007;125(1):55-62. (Pubitemid 46072376)
3. Schaumberg DA, Chasman D, Morrison MA, et al. Prospective study of common variants in the retinoic acid receptor-related orphan receptor α gene and risk of neovascular age-related macular degeneration. Arch Ophthalmol. 2010;128(11):1462-1471.
4. Lander ES. The new genomics: global views of biology. Science. 1996;274(5287):536-539. (Pubitemid 26360427)
5. Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet. 2001;17(9):502-510. (Pubitemid 32763048)
6. Hageman GS, Gehrs K, Lejnine S, et al. Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration. Hum Genomics. 2011;5(5):420-440.
7. Feigl B, Morris CP. The challenge of predicting macular degeneration. Curr Med Res Opin. 2011;27(9):1745-1748.
8. Jakobsdottir J, Gorin MB, Conley YP, Ferrell RE, Weeks DE. Interpretation of genetic association studies: markers with replicated highly significant odds ratiosmay be poor classifiers. PLoS Genet. 2009;5(2):e1000337.
9. Tuo J, Smith BC, Bojanowski CM, et al. The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. FASEB J. 2004;18(11):1297-1299. (Pubitemid 39561582)
10. Yang X, Hu J, Zhang J, Guan H. Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese. Br J Ophthalmol. 2010;94(9):1211-1214.
11. Chan CC, Tuo J, Bojanowski CM, Csaky KG, Green WR. Detection of CX3CR1 single nucleotide polymorphism and expression on archived eyes with age-related macular degeneration. Histol Histopathol. 2005;20(3):857-863. (Pubitemid 40932603)
12. Zhou Y, Sheets KG, Knott EJ, et al. Cellular and 3D optical coherence tomography assessment during the initiation and progression of retinal degeneration in the Ccl2/Cx3cr1-deficient mouse. Exp Eye Res. 2011;93(5):636-648.
13. Wang J, Ohno-Matsui K, Nakahama K, et al. Amyloid beta enhancesmigration of endothelial progenitor cells by upregulating CX3CR1 in response to fractalkine, which may be associated with development of choroidal neovascularization. Arterioscler Thromb Vasc Biol. 2011;31(7):e11-e18.
14. Combadière C, Feumi C, Raoul W, et al. CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration. J Clin Invest. 2007;117(10):2920-2928. (Pubitemid 47529622)
15. Zhang M, Xu G, Liu W, Ni Y, Zhou W. Role of fractalkine/CX3CR1 interaction in light-induced photoreceptor degeneration through regulating retinal microglial activation and migration. PLoS One. 2012;7(4):e35446.
16. Raoul W, Auvynet C, Camelo S, et al. CCL2/CCR2 and CX3CL1/CX3CR1 chemokine axes and their possible involvement in age-related macular degeneration. J Neuroinflammation. 2010;7:87.
17. Raoul W, Feumi C, Keller N, et al. Lipid-bloated subretinal microglial cells are at the origin of drusen appearance in CX3CR1-deficient mice. Ophthalmic Res. 2008;40(3-4):115-119. (Pubitemid 351562887)
18. Raoul W, Keller N, Rodéro M, Behar-Cohen F, Sennlaub F, Combadière C. Role of the chemokine receptor CX3CR1 in the mobilization of phagocytic retinal microglial cells. J Neuroimmunol. 2008;198(1-2):56-61.
19. Zerbib J, Puche N, Richard F, et al. No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD. Exp Eye Res. 2011;93(4):382-386.
20. Steering Committee of the Physicians' Health Study Research Group. Final report on the aspirin component of the ongoing Physicians' Health Study. N Engl J Med. 1989;321(3):129-135.
21. Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report No. 8. Arch Ophthalmol. 2001;119(10): 1417-1436.
22. Christen WG, Glynn RJ, Manson JE, Ajani UA, Buring JE. A prospective study of cigarette smoking and risk of age-related macular degeneration in men. JAMA. 1996;276(14):1147-1151. (Pubitemid 26329741)
23. Cook NR, Lee IM, Gaziano JM, et al. Low-dose aspirin in the primary prevention of cancer: the Women's Health Study. a randomized controlled trial. JAMA. 2005;294(1):47-55. (Pubitemid 41002838)
24. Rexrode KM, Lee IM, Cook NR, Hennekens CH, Buring JE. Baseline characteristics of participants in the Women's Health Study. JWomens Health Gend Based Med. 2000;9(1):19-27. (Pubitemid 30148098)
25. Schaumberg DA, Christen WG, Buring JE, Glynn RJ, Rifai N, Ridker PM. High-sensitivity C-reactive protein, other markers of inflammation, and the incidence of macular degeneration in women. Arch Ophthalmol. 2007;125(3):300-305. (Pubitemid 46425556)
26. Bassuk SS, Albert CM, Cook NR, et al. The Women's Antioxidant Cardiovascular Study: design and baseline characteristics of participants. JWomens Health (Larchmt). 2004;13(1):99-117. (Pubitemid 38312691)
27. Belanger CF, Hennekens CH, Rosner B, Speizer FE. The Nurses' Health Study. Am J Nurs. 1978;78(6):1039-1040.
28. Colditz GA, Rimm EB, Giovannucci E, Stampfer MJ, Rosner B, Willett WC. A prospective study of parental history ofmyocardial infarction and coronary artery disease in men. Am J Cardiol. 1991;67(11):933-938.
29. Cho E, Hung S, Willett WC, et al. Prospective study of dietary fat and the risk of age-related macular degeneration. Am J Clin Nutr. 2001;73(2):209-218. (Pubitemid 32109848)
30. Seddon JM, Willett WC, Speizer FE, Hankinson SE. A prospective study of cigarette smoking and age-related macular degeneration in women. JAMA. 1996;276(14):1141-1146. (Pubitemid 26329740)
31. Christen WG, Glynn RJ, Chew EY, Albert CM, Manson JE. Folic acid, pyridoxine, and cyanocobalamin combination treatment and age-related macular degeneration in women: the Women's Antioxidant and Folic Acid Cardiovascular Study. Arch Intern Med. 2009;169(4):335-341.
32. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263-265. (Pubitemid 40202029)
33. Akaike H. Information theory and an extension of the maximum likelihood principle. Paper presented at: Second International Symposium on Information Theory; 1973; Budapest, Hungary.
34. Abecasis GR, Altshuler D, Auton A, et al; 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing [published correction appears in Nature;473(7348):544]. Nature. 2010;467(7319): 1061-1073.
35. Seddon JM, Rosner B, Sperduto RD, et al. Dietary fat and risk for advanced age-related macular degeneration. Arch Ophthalmol. 2001;119(8):1191- 1199. (Pubitemid 32730008)
36. Rothman KJ, Greenland S. Modern Epidemiology. 2nd ed. Philadelphia, PA: Lipincott-Raven; 1998:133-134.
37. Cho E, Seddon JM, Rosner B, Willett WC, Hankinson SE. Prospective study of intake of fruits, vegetables, vitamins, and carotenoids and risk of age-related maculopathy. Arch Ophthalmol. 2004;122(6):883-892. (Pubitemid 38736248)
38. Cho E, Hankinson SE, Willett WC, et al. Prospective study of alcohol consumption and the risk of age-related macular degeneration. Arch Ophthalmol. 2000;118(5):681-688. (Pubitemid 30327346)
39. White GE, Greaves DR. Fractalkine: a survivor's guide. chemokines as antiapoptotic mediators. Arterioscler Thromb Vasc Biol. 2012;32(3):589-594.
40. Savarin-Vuaillat C, Ransohoff RM. Chemokines and chemokine receptors in neurological disease: raise, retain, or reduce? Neurotherapeutics. 2007;4(4):590-601. (Pubitemid 47499286)
41. Prinz M, Priller J. Tickets to the brain: role of CCR2 and CX3CR1 in myeloid cell entry in the CNS. J Neuroimmunol. 2010;224(1-2):80-84.
42. Damani MR, Zhao L, Fontainhas AM, Amaral J, Fariss RN, Wong WT. Age-related alterations in the dynamic behavior of microglia. Aging Cell. 2011;10(2):263-276.
43. Davis CN, Harrison JK. Proline 326 in the C terminus of murine CX3CR1 prevents G-protein and phosphatidylinositol 3-kinase-dependent stimulation of Akt and extracellular signal-regulated kinase in Chinese hamster ovary cells. J Pharmacol Exp Ther. 2006;316(1):356-363. (Pubitemid 41832615)
44. Brión M, Sanchez-Salorio M, Cortón M, et al; Spanish multi-centre group of AMD. Genetic association study of age-related macular degeneration in the Spanish population. Acta Ophthalmol. 2011;89(1):e12-e22.
45. Liu MM, Agrón E, Chew E, et al. Copy number variations in candidate genes in neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011;52(6):3129-3135.
46. Farrell KA, Withers SB, Holt CM. C-Myb function in the vessel wall. Front Biosci (Elite Ed). 2011;3:968-977.
47. Tremblay K, Lemire M, Provost V, et al. Association study between the CX3CR1 gene and asthma. Genes Immun. 2006;7(8):632-639. (Pubitemid 46242367)
48. Sirois-Gagnon D, Chamberland A, Perron S, Brisson D, Gaudet D, Laprise C. Association of common polymorphisms in the fractalkine receptor (CX3CR1) with obesity. Obesity (Silver Spring). 2011;19(1):222-227.
49. Lee S, Varvel NH, Konerth ME, et al. CX3CR1 deficiency alters microglial activation and reduces beta-amyloid deposition in two Alzheimer's disease mouse models. Am J Pathol. 2010;177(5): 2549-2562.
50. Suzuki F, Kubota T, Miyazaki Y, et al. Serum level of soluble CX3CL1/fractalkine is elevated in patients with polymyositis and dermatomyositis, which is correlated with disease activity. Arthritis Res Ther. 2012;14(2):R48.
51. Clark AK, Staniland AA, Malcangio M. Fractalkine/CX3CR1 signalling in chronic pain and inflammation. Curr Pharm Biotechnol. 2011;12(10):1707-1714.
52. Ho L, van Leeuwen R, Witteman JC, et al. Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study. Arch Ophthalmol. 2011;129(6):758-766.
53. Jun G, Nicolaou M, Morrison MA, et al. Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology. PLoS One. 2011;6(10):e25775.
54. Shah R, Hinkle CC, Ferguson JF, et al. Fractalkine is a novel human adipochemokine associated with type 2 diabetes. Diabetes. 2011;60(5):1512-1518.
55. Tuo J, Ross RJ, Herzlich AA, et al. A high omega-3 fatty acid diet reduces retinal lesions in a murine model of macular degeneration. Am J Pathol. 2009;175(2):799-807.