Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 12, 2011, Pages 9099-9107

  Chiu, Chung Jung ^a   Conley, Yvette P ^b   Gorin, Michael B ^c   Gensler, Gary ^d   Lai, Chao Qiang ^a   Shang, Fu ^a   Taylor, Allen ^a  

^a TUFTS UNIVERSITY   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d EMMES CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN; SOMATOMEDIN B; SOMATOMEDIN B RECEPTOR; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN BINDING PROTEIN 1; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR;

ADULT; AGED; ARTICLE; BODY MASS; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; GEOGRAPHIC ATROPHY; GLYCEMIC INDEX; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA NEOVASCULARIZATION; SINGLE NUCLEOTIDE POLYMORPHISM; DIET; GENETICS; MIDDLE AGED; RETINA MACULA DEGENERATION; RISK FACTOR;

AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DIET; FEMALE; GENOTYPE; GLYCEMIC INDEX; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, IGF TYPE 1; RISK FACTORS; SOMATOMEDINS;

EID: 84857080025     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7782     Document Type: Article

References (94)

1. Tomany SC, Wang JJ, van Leeuwen R, et al. Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophthalmology. 2004;111:1280-1287.
2. Chiu CJ, Taylor A. Nutritional antioxidants and age-related cataract and maculopathy. Exp Eye Res. 2007;84:229-245.
3. Haddad S, Chen CA, Santangelo SL, Seddon JM. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol. 2006;51:316-363.
4. Chiu CJ, Hubbard LD, Armstrong J, et al. Dietary glycemic index and carbohydrate in relation to early age-related macular degeneration. Am J Clin Nutr. 2006;83:880-886.
5. Chiu CJ, Milton RC, Gensler G, Taylor A. Association between dietary glycemic index and age-related macular degeneration in the Age-Related Eye Disease Study. Am J Clin Nutr. 2007;86:180-188.
6. Chiu CJ, Milton RC, Klein R, Gensler G, Taylor A. Dietary carbohydrate and progression of age-related macular degeneration, a prospective study from the Age-Related Eye Disease Study. Am J Clin Nutr. 2007;86:1210-1218.
7. Kaushik S, Wang JJ, Flood V, et al. Dietary glycemic index and the risk of age-related macular degeneration. Am J Clin Nutr. 2008; 88:1104-1110.
8. Jenkins DJ, Wolever TM, Taylor RH. Glycemic index of foods: a physiological basis for carbohydrate exchange. Am J Clin Nutr. 1981;34:362-366.
9. Wolever TM, Nguyen PM, Chiasson JL, et al. Determinants of diet glycemic index calculated retrospectively from diet records of 342 individuals with non-insulin-dependent diabetes mellitus. Am J Clin Nutr. 1994;59:1265-1269.
10. Thissen JP, Ketelslegers JM, Underwood LE. Nutritional regulation of the insulin-like growth factors. Endocr Rev. 1994;15:80-101.
11. Kaaks R, Lukanova A. Energy balance and cancer: the role of insulin and insulin-like growth factor-I. Proc Nutr Soc. 2001;60: 91-106.
12. Brand-Miller JC, Liu V, Petocz P, Baxter RC. The glycemic index of foods influences postprandial insulin-like growth factor-binding protein responses in lean young subjects. Am J Clin Nutr. 2005; 82:350-354.
13. Rosenthal R, Wohlleben H, Malek G, et al. Insulin-like growth factor-1 contributes to neovascularization in age-related macular degeneration. Biochem Biophys Res Commun. 2004;323:1203-1208.
14. Sall JW, Klisovic DD, O'Dorisio MS, Katz SE. Somatostatin inhibits IGF-1 mediated induction of VEGF in human retinal pigment epithelial cells. Exp Eye Res. 2004;79:465-476.
15. Lambooij AC, van Wely KH, Lindenbergh-Kortleve DJ, Kuijpers RW, Kliffen M, Mooy CM. Insulin-like growth factor-I and its receptor in neovascular age-related macular degeneration. Invest Ophthalmol Vis Sci. 2003;44:2192-2198.
16. Age-Related Eye Disease Study Research Group. The Age-Related Eye Disease Study system for classifying age-related macular degeneration from stereoscopic color fundus photographs: the Age-Related Eye Disease Study Report Number 6. Am J Ophthalmol. 2001;132:668-681.
17. Age-Related Eye Disease Study Research Group. The age-related eye disease study (AREDS) system for classifying cataracts from photographs: AREDS report no. 4. Am J Ophthalmol. 2001;131: 167-175.
18. Aoi N, Nakayama T, Soma M, et al. Association of the insulin-like growth factor1 gene with myocardial infarction in Japanese subjects. Hereditas. 2010;147:215-224.
19. Patel AV, Cheng I, Canzian F, et al. IGF-1, IGFBP-1, and IGFBP-3 polymorphisms predict circulating IGF levels but not breast cancer risk: findings from the Breast and Prostate Cancer Cohort Consortium (BPC3). PLoS One. 2008;3:e2578.
20. Taverne CW, Verheus M, McKay JD, et al. Common genetic variation of insulin-like growth factor-binding protein 1 (IGFBP-1), IGFBP-3, and acid labile subunit in relation to serum IGF-I levels and mammographic density. Breast Cancer Res Treat. 2010;123: 843-855.
21. Canzian F, McKay JD, Cleveland RJ, et al. Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk: results from the EPIC study. Br J Cancer. 2006;94:299-307.
22. Rosendahl AH, Hietala M, Henningson M, Olsson H, Jernström H. IGFBP1 and IGFBP3 polymorphisms predict circulating IGFBP-3 levels among women from high-risk breast cancer families. Breast Cancer Res Treat. 2011;127:785-794.
23. Adewoye AH, Nolan VG, Ma Q, et al. Association of polymorphisms of IGF1R and genes in the transforming growth factor-beta/ bone morphogenetic protein pathway with bacteremia in sickle cell anemia. Clin Infect Dis. 2006;43:593-598.
24. Rezgui D, Williams C, Savage SA, et al. Structure and function of the human Gly1619Arg polymorphism of M6P/IGF2R domain 11 implicated in IGF2 dependent growth. J Mol Endocrinol. 2009;42: 341-356.
25. Kurinij N, Gensler G, Milton R, Age-Related Eye Disease Study (AREDS) Research Group. Development and valuation of a food frequency questionnaire in a randomized trial of eye diseases. International Conference on Dietary Assessment Measures; May 7, 1998, Phoenix, AZ.
26. Foster-Powell K, Holt SH, Brand-Miller JC. International table of glycemic index and glycemic load values: 2002. Am J Clin Nutr. 2002;76:5-56.
27. Willett W, Stampfer MJ. Total energy intake: implications for epidemiologic analyses. Am J Epidemiol. 1986;124:17-27.
28. McCarty CA, Lee SE, Livingston PM, Bissinella M, Taylor HR. Ocular exposure to UV-B in sunlight: the Melbourne visual impairment project model. Bull World Health Organ. 1996;74:353-360.
29. Nielsen DM, Weir BS. A classical setting for associations between markers and loci affecting quantitative traits. Genet Res. 1999;74: 271-277.
30. Sasieni PD. From genotypes to genes: doubling the sample size. Biometrics. 1997;53:1253-1261.
31. Armitage P. Tests for linear trends in proportions and frequencies. Biometrics. 1955;11:375-386.
32. Chiu CJ, Chang ML, Chiang CP, Hahn LJ, Hsieh LL, Chen CJ. Interaction of collagen-related genes and susceptibility to betel quidinduced oral submucous fibrosis. Cancer Epidemiol Biomarkers Prev. 2002;11:646-653.
33. Chiu CJ, Chiang CP, Chang ML, et al. Association between genetic polymorphism of tumor necrosis factor-alpha and risk of oral submucous fibrosis, a pre-cancerous condition of oral cancer. J Dent Res. 2001;80:2055-2059.
34. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38:904-909.
35. Ukkola O, Sun G, Bouchard C. Insulin-like growth factor 2 (IGF2) and IGF-binding protein 1 (IGFBP1) gene variants are associated with overfeeding-induced metabolic changes. Diabetologia. 2001; 44:2231-2236.
36. Vaessen N, Heutink P, Janssen JA, et al. A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. Diabetes. 2001;50:637-642.
37. Miller BS, Yee D. Type I insulin-like growth factor receptor as a therapeutic target in cancer. Cancer Res. 2004;65:10123-10127.
38. Cheng I, Stram DO, Penney KL, et al. Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. J Natl Cancer Inst. 2006;98:123-134.
39. Le Marchand L, Kolonel LN, Henderson BE, Wilkens LR. Association of an exon 1 polymorphism in the IGFBP3 gene with circulating IGFBP-3 levels and colorectal cancer risk: the multiethnic cohort study. Cancer Epidemiol Biomarkers Prev. 2005;14:1319-1321.
40. Zavras AI, Pitiphat W, Wu T, et al. Insulin-like growth factor II receptor gene-167 genotype increases the risk of oral squamous cell carcinoma in humans. Cancer Res. 2003;63:296-297.
41. Tsai FJ, Lin HJ, Chen WC, Chen HY, Fan SS. Insulin-like growth factor-II gene polymorphism is associated with primary open angle glaucoma. J Clin Lab Anal. 2003;17:259-263.
42. Messier C, Teutenberg K. The role of insulin, insulin growth factor, and insulin-degrading enzyme in brain aging and Alzheimer's disease. Neural Plast. 2005;12:311-328.
43. de la Monte SM, Wands JR. Review of insulin and insulin-like growth factor expression, signaling, and malfunction in the central nervous system: relevance to Alzheimer's disease. J Alzheimers Dis. 2005;7:45-61.
44. Chiu CJ, Klein R, Milton RC, Gensler G, Taylor A. Does eating particular diets alter risk of age-related macular degeneration in users of the Age-Related Eye Disease Study supplements? Br J Ophthalmol. 2009;93:1241-1246.
45. Chiu CJ, Milton RC, Klein R, Gensler G, Taylor A. Dietary compound score and risk of age-related macular degeneration in the Age-Related Eye Disease Study. Ophthalmology. 2009;116:939-946.
46. Chiu CJ, Taylor A. Dietary hyperglycemia, glycemic index and metabolic retinal diseases. Prog Retin Eye Res. 2011;30:18-53.
47. Yu H, Rohan T. Role of the insulin-like growth factor family in cancer development and progression. J Natl Cancer Inst. 2000; 92:1472-1489.
48. Furstenberger G, Senn HJ. Insulin-like growth factors and cancer. Lancet Oncol. 2002;3:298-302.
49. Rajpathak SN, Gunter MJ, Wylie-Rosett J, et al. The role of insulinlike growth factor-I and its binding proteins in glucose homeostasis and type 2 diabetes. Diabetes Metab Res Rev. 2009;25:3-12.
50. Holzenberger M, Kappeler L, De Magalhaes Filho C. IGF-1 signaling and aging. Exp Gerontol. 2004;39:1761-1764.
51. Kim JJ, Accili D. Signalling through IGF-I and insulin receptors: where is the specificity? Growth Horm IGF Res. 2002;12:84-90.
52. Zapf J, Schmid C, Froesch ER. Biological and immunological properties of insulin-like growth factors (IGF) I and II. Clin Endocrinol Metab. 1984;13:3-30.
53. Guler HP, Zapf J, Froesch ER. Short-term metabolic effects of recombinant human insulin-like growth factor I in healthy adults. N Engl J Med. 1987;317:137-140.
54. Larsson O, Girnita A, Girnita L. Role of insulin-like growth factor 1 receptor signalling in cancer. Br J Cancer. 2005;92:2097-2101.
55. Samani AA, Yakar S, LeRoith D, Brodt P. The role of the IGF system in cancer growth and metastasis: overview and recent insights. Endocr Rev. 2007;28:20-47.
56. Weng CY, Kothary PC, Verkade AJ, Reed DM, Del Monte MA. MAP kinase pathway is involved in IGF-1-stimulated proliferation of human retinal pigment epithelial cells (hRPE). Curr Eye Res. 2009; 34:867-876.
57. Díaz-Rodríguez E, Piñeiro A, Casanueva FF, Camiña JP. The bovine vitreous-derived lipid factor (bVLF) is a powerful inhibitor of retinal pigmented epithelial (hRPE) cell proliferation. FEBS Lett. 2005;579:4020-4030.
58. Hupfeld CJ, Olefsky JM. Regulation of receptor tyrosine kinase signaling by GRKs and beta-arrestins. Annu Rev Physiol. 2007;69: 561-577.
59. Juul A. Serum levels of insulin-like growth factor I and its binding proteins in health and disease. Growth Horm IGF Res. 2003;13: 113-170.
60. Lee KW, Cohen P. Nuclear effects: unexpected intracellular actions of insulin-like growth factor binding protein-3. J Endocrinol. 2002;175:33-40.
61. Oufattole M, Lin SW, Liu B, Mascarenhas D, Cohen P, Rodgers BD. Ribonucleic acid polymerase II binding subunit 3 (Rpb3), a potential nuclear target of insulin-like growth factor binding protein-3. Endocrinology. 2006;147:2138-2146.
62. Firth SM, Baxter RC. Cellular actions of the insulin-like growth factor binding proteins. Endocr Rev. 2002;23:824-854.
63. Goodman-Gruen D, Barrett-Connor E. Epidemiology of insulin-like growth factor-I in elderly men and women: The Rancho Bernardo Study. Am J Epidemiol. 1997;145:970-976.
64. Janssen JA, Stolk RP, Pols HA, Grobbee DE, de Jong FH, Lamberts SW. Serum free IGF-I, total IGF-I, IGFBP-1 and IGFBP-3 levels in an elderly population: relation to age and sex steroid levels. Clin Endocrinol (Oxf). 1998;48:471-478.
65. Frystyk J. Free insulin-like growth factors: measurements and relationships to growth hormone secretion and glucose homeostasis. Growth Horm IGF Res. 2004;14:337-375.
66. Chen JW, Hojlund K, Beck-Nielsen H, Sandahl Christiansen J, Orskov H, Frystyk J. Free rather than total circulating insulin-like growth factor-I determines the feedback on growth hormone release in normal subjects. J Clin Endocrinol Metab. 2005;90:366-371.
67. Katz LE, DeLeon DD, Zhao H, Jawad AF. Free and total insulin-like growth factor (IGF)-I levels decline during fasting: relationships with insulin and IGF-binding protein-1. J Clin Endocrinol Metab. 2002;87:2978-2983.
68. Nyomba BL, Berard L, Murphy LJ. Free insulin-like growth factor I (IGF-I) in healthy subjects: relationship with IGF-binding proteins and insulin sensitivity. J Clin Endocrinol Metab. 1997;82:2177-2181.
69. Harrela M, Koistinen H, Kaprio J, et al. Genetic and environmental components of interindividual variation in circulating levels of IGF-I, IGF-II, IGFBP-1, and IGFBP-3. J Clin Invest. 1996;98:2612-2615.
70. Verhaeghe J, Loos R, Vlietinck R, Herck EV, van Bree R, Schutter AM. C-peptide, insulin-like growth factors I and II, and insulin-like growth factor binding protein-1 in cord serum of twins: genetic versus environmental regulation. Am J Obstet Gynecol. 1996;175: 1180-1188.
71. Hong Y, Brismar K, Hall K, Pedersen NL, de Faire U. Associations between insulin-like growth factor-I (IGF-I), IGF-binding protein-1, insulin and other metabolic measures after controlling for genetic influences: results from middle-aged and elderly monozygotic twins. J Endocrinol. 1997;153:251-257.
72. Hall K, Hilding A, Thoren M. Determinants of circulating insulinlike growth factor-I. J Endocrinol Invest. 1999;22(5 suppl):48-57.
73. Treins C, Murdaca J, Van Obberghen E, Giorgetti-Peraldi S. AMPK activation inhibits the expression of HIF-1alpha induced by insulin and IGF-1. Biochem Biophys Res Commun. 2006;342:1197-1202.
74. Treins C, Giorgetti-Peraldi S, Murdaca J, Monthouël-Kartmann MN, Van Obberghen E. Regulation of hypoxia-inducible factor (HIF)-1 activity and expression of HIF hydroxylases in response to insulinlike growth factor I. Mol Endocrinol. 2005;19:1304-1317.
75. Beppu K, Nakamura K, Linehan WM, Rapisarda A, Thiele CJ. Topotecan blocks hypoxia-inducible factor-1alpha and vascular endothelial growth factor expression induced by insulin-like growth factor-I in neuroblastoma cells. Cancer Res. 2005;65:4775-4781.
76. Hong SS, Lee H, Kim KW. HIF-1alpha: a valid therapeutic target for tumor therapy. Cancer Res Treat. 2004;36:343-353.
77. Grant MB, Caballero S, Millard WJ. Inhibition of IGF-I and b-FGF stimulated growth of human retinal endothelial cells by the somatostatin analogue, octreotide: a potential treatment for ocular neovascularization. Regul Pept. 1993;48:267-278.
78. Spraul CW, Baldysiak-Figiel A, Lang GK, Lang GE. Octreotide inhibits growth factor-induced bovine choriocapillary endothelial cells in vitro. Graefes Arch Clin Exp Ophthalmol. 2002;240:227-231.
79. Ulbig MW, Wolfensberger TJ, Hiscott P, Ationu A, Carter ND, Gregor ZJ. Insulin-like growth factor I (IGF-I) receptor/binding protein in human diabetic epiretinal membranes. Ger J Ophthalmol. 1995;4:264-268.
80. Economou MA, Wu J, Vasilcanu D, et al. Inhibition of VEGF secretion and experimental choroidal neovascularization by picropodophyllin (PPP), an inhibitor of the insulin-like growth factor-1 receptor. Invest Ophthalmol Vis Sci. 2008;49:2620-2626.
81. Bressler NM. Antiangiogenic approaches to age-related macular degeneration today. Ophthalmology. 2009;116(10 suppl):S15-S23.
82. Bressler SB. Introduction: Understanding the role of angiogenesis and antiangiogenic agents in age-related macular degeneration. Ophthalmology. 2009;116(10 Suppl):S1-S7.
83. Ruberte J, Ayuso E, Navarro M, et al. Increased ocular levels of IGF-1 in transgenic mice lead to diabetes-like eye disease. J Clin Invest. 2004;113:1149-1157.
84. Poulaki V, Joussen AM, Mitsiades N, Mitsiades CS, Iliaki EF, Adamis AP. Insulin-like growth factor-I plays a pathogenetic role in diabetic retinopathy. Am J Pathol. 2004;165:457-469.
85. Haurigot V, Villacampa P, Ribera A, et al. Increased intraocular insulin-like growth factor-I triggers blood-retinal barrier breakdown. J Biol Chem. 2009;284:22961-22969.
86. Zhao R, Macdonald K, Casson AG. Insulin-like growth factor type I receptor gene expression and obesity in esophageal adenocarcinoma. Mol Carcinog. 2009;48:982-988.
87. Suga K, Imai K, Eguchi H, Hayashi S, Higashi Y, Nakachi K. Molecular significance of excess body weight in postmenopausal breast cancer patients, in relation to expression of insulin-like growth factor I receptor and insulin-like growth factor II genes. Jpn J Cancer Res. 2001;92:127-134.
88. MacDonald K, Porter GA, Guernsey DL, Zhao R, Casson AG. A polymorphic variant of the insulin-like growth factor type I receptor gene modifies risk of obesity for esophageal adenocarcinoma. Cancer Epidemiol. 2009;33:37-40.
89. Age-Related Eye Disease Study Research Group. Risk factors for the incidence of Advanced Age-Related Macular Degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19. Ophthalmology. 2005;112:533-539.
90. Cooper GM, Nickerson DA, Eichler EE. Mutational and selective effects on copy-number variants in the human genome. Nat Genet. 2007;39(7 suppl):S22-S29.
91. Anderson CD, Nalls MA, Biffi A, et al. The effect of survival bias on case-control genetic association studies of highly lethal diseases. Circ Cardiovasc Genet. 2011;4:188-196.
92. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308: 385-389.
93. Ryu E, Fridley BL, Tosakulwong N, Bailey KR, Edwards AO. Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study. Mol Vis. 2010;16:2811-2821.
94. Ma J, Amos CI. Theoretical formulation of principal components analysis to detect and correct for population stratification. PLoS One. 2010;5:pii: e12510.