Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration

References

• Klein R, Peto T, Bird A, Vannewkirk MR. The epidemiology of age-related macular degeneration. Am J Ophthalmol 2004;137:486–95.
   PubMed Web of Science ®Google Scholar
• Pascolini D, Mariotti SP, Pokharel GP, et al. 2002 global update of available data on visual impairment: A compilation of population-based prevalence studies. Ophthalmic Epidemiol 2004;11:67–115.
   Google Scholar
• Wong WL, Su X, Li X, et al. Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: A systematic review and meta-analysis. Lancet Global Health 2014;2:e106–e116.
   PubMed Web of Science ®Google Scholar
• Khan JC, Thurlby DA, Shahid H, et al. Smoking and age-related macular degeneration: The number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. British J Ophthalmol 2006;90:75–80.
   PubMed Web of Science ®Google Scholar
• Cackett P, Yeo I, Cheung CM, et al. Relationship of smoking and cardiovascular risk factors with polypoidal choroidal vasculopathy and age-related macular degeneration in Chinese persons. Ophthalmology 2011;118:846–852.
   PubMed Web of Science ®Google Scholar
• Kabasawa S, Mori K, Horie-Inoue K, et al. Associations of cigarette smoking but not serum fatty acids with age-related macular degeneration in a Japanese population. Ophthalmology 2011;118:1082–1088.
   PubMed Web of Science ®Google Scholar
• Kimura K, Isashiki Y, Sonoda S, et al. Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration. American journal of ophthalmology 2000;130:769–773.
   PubMed Web of Science ®Google Scholar
• Seddon JM, Cote J, Rosner B. Progression of age-related macular degeneration: Association with dietary fat, transunsaturated fat, nuts, and fish intake. Archives of ophthalmology (Chicago, Ill: 1960) 2003;121:1728–1737.
   Google Scholar
• Seddon JM, George S, Rosner B. Cigarette smoking, fish consumption, omega-3 fatty acid intake, and associations with age-related macular degeneration: The US Twin Study of Age-Related Macular Degeneration. Archives of ophthalmology (Chicago, Ill: 1960) 2006;124:995–1001.
   Google Scholar
• Katta S, Kaur I, Chakrabarti S. The molecular genetic basis of age-related macular degeneration: An overview. Journal of genetics 2009;88:425–449.
   PubMed Web of Science ®Google Scholar
• Gorin MB. Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics. Molecular aspects of medicine 2012;33:467–486.
   PubMed Web of Science ®Google Scholar
• Liu MM, Chan CC, Tuo J. Genetic mechanisms and age-related macular degeneration: Common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics. Human genomics 2012;6:13.
   PubMed Web of Science ®Google Scholar
• Fritsche LG, Chen W, Schu M, et al. Seven new loci associated with age-related macular degeneration. Nature genetics 2013;45:433–9, 9e1–2.
   PubMed Web of Science ®Google Scholar
• Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science (New York, NY) 2005;308:385–389.
   Google Scholar
• Sobrin L, Ripke S, Yu Y, et al. Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology 2012;119:1874–1885.
   PubMed Web of Science ®Google Scholar
• Garcia M, Alvarez L, Nogacka AM, et al. CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration. Acta Ophthalmologica 2015;93:e658–e66.
   PubMed Web of Science ®Google Scholar
• Hyman L, Neborsky R. Risk factors for age-related macular degeneration: An update. Curr Opin Ophthalmol 2002;13:171–175.
   PubMedGoogle Scholar
• Crabb JW, Miyagi M, Gu X, et al. Drusen proteome analysis: An approach to the etiology of age-related macular degeneration. Proc National Acad Sci USA 2002;99:14682–14687.
   PubMed Web of Science ®Google Scholar
• Lengyel I, Flinn JM, Peto T, et al. High concentration of zinc in sub-retinal pigment epithelial deposits. Experimental Eye Res 2007;84:772–780.
   PubMed Web of Science ®Google Scholar
• Flinn JM, Kakalec P, Tappero R, et al. Correlations in distribution and concentration of calcium, copper and iron with zinc in isolated extracellular deposits associated with age-related macular degeneration. Metallomics 2014;6:1223–1228.
   PubMed Web of Science ®Google Scholar
• Thompson RB, Reffatto V, Bundy JG, et al. Identification of hydroxyapatite spherules provides new insight into subretinal pigment epithelial deposit formation in the aging eye. Proc National Acad Sci USA 2015;112:1565–1570.
   PubMed Web of Science ®Google Scholar
• Barzegar-Befroei N, Cahyadi S, Fango A, et al. Zinc and Eye Diseases. Amsterdam, the Netherlands: IOS Press; 2011.
   Google Scholar
• Ugarte M, Osborne NN. Zinc in the retina. Prog Neurobiol 2001;64:219–249.
   PubMed Web of Science ®Google Scholar
• Nan R, Tetchner S, Rodriguez E, et al. Zinc-induced self-association of complement C3b and Factor H: Implications for inflammation and age-related macular degeneration. J Biological Chem 2013;288:19197–19210.
   PubMed Web of Science ®Google Scholar
• Gonzalez-Iglesias H, Alvarez L, Garcia M,et al. Metallothioneins (MTs) in the human eye: A perspective article on the zinc-MT redox cycle. Metallomics 2014;6:201–208.
   PubMed Web of Science ®Google Scholar
• Alvarez L, Gonzalez-Iglesias H, Garcia M, et al. The stoichiometric transition from Zn6Cu1-metallothionein to Zn7-metallothionein underlies the up-regulation of metallothionein (MT) expression: quantitative analysis of MT-metal load in eye cells. J Biol Chem 2012;287:28456–28469.
   PubMed Web of Science ®Google Scholar
• Karin M, Eddy RL, Henry WM, et al. Human metallothionein genes are clustered on chromosome 16. Proc National Acad Sci USA 1984;81:5494–5498.
   PubMed Web of Science ®Google Scholar
• Colvin RA, Holmes WR, Fontaine CP, Maret W. Cytosolic zinc buffering and muffling: Their role in intracellular zinc homeostasis. Metallomics 2010;2:306–317.
   PubMed Web of Science ®Google Scholar
• Hanada K, Sawamura D, Tamai K, et al. Novel function of metallothionein in photoprotection: Metallothionein-null mouse exhibits reduced tolerance against ultraviolet B injury in the skin. J Invest Dermatol 1998;111:582–585.
   PubMed Web of Science ®Google Scholar
• Reeve VE, Nishimura N, Bosnic M, et al. Lack of metallothionein-I and -II exacerbates the immunosuppressive effect of ultraviolet B radiation and cis-urocanic acid in mice. Immunology 2000;100:399–404.
   PubMed Web of Science ®Google Scholar
• Kelley SL, Basu A, Teicher BA, et al. Overexpression of metallothionein confers resistance to anticancer drugs. Science (New York, NY) 1988;241:1813–1815.
   Google Scholar
• Chin JL, Banerjee D, Kadhim SA, et al. Metallothionein in testicular germ cell tumors and drug resistance. Clin Correl Cancer 1993;72:3029–3035.
   Google Scholar
• Fuertes MA, Alonso C, Perez JM. Biochemical modulation of Cisplatin mechanisms of action: Enhancement of antitumor activity and circumvention of drug resistance. Chem Rev 2003;103:645–662.
   PubMed Web of Science ®Google Scholar
• Sunada F, Itabashi M, Ohkura H, Okumura T. p53 negativity, CDC25B positivity, and metallothionein negativity are predictors of a response of esophageal squamous cell carcinoma to chemoradiotherapy. World J Gastroenterol 2005;11:5696–5700.
   PubMed Web of Science ®Google Scholar
• Tate DJ, Jr., Newsome DA, Oliver PD. Metallothionein shows an age-related decrease in human macular retinal pigment epithelium. Invest Ophthalmol Visual Sci 1993;34:2348–2351.
   PubMed Web of Science ®Google Scholar
• Newsome DA, Miceli MV, Tate DJ, et al. Zinc content of human retinal pigment epithelium decreases with age and macular degeneration, but superoxide dismutase activity increases. J Trace Ele Exp Med 1996;8:193–199.
   Google Scholar
• Hayashi Y, Hashizume T, Wakida K, et al. Association between metallothionein genes polymorphisms and sporadic amyotrophic lateral sclerosis in a Japanese population. Amyotrophic Lateral Sclerosis 2006;7:22–26.
   PubMed Web of Science ®Google Scholar
• Giacconi R, Cipriano C, Muti E, et al. Novel -209A/G MT2A polymorphism in old patients with type 2 diabetes and atherosclerosis: Relationship with inflammation (IL-6) and zinc. Biogerontology 2005;6:407–413.
   PubMed Web of Science ®Google Scholar
• Cipriano C, Malavolta M, Costarelli L, et al. Polymorphisms in MT1a gene coding region are associated with longevity in Italian Central female population. Biogerontology 2006;7:357–365.
   PubMed Web of Science ®Google Scholar
• Yang L, Li H, Yu T, et al. Polymorphisms in metallothionein-1 and -2 genes associated with the risk of type 2 diabetes mellitus and its complications. Am J Physiol Endocrinol Metab 2008;294:E987–E992.
   PubMed Web of Science ®Google Scholar
• Zavras AI, Yoon AJ, Chen MK, et al. Metallothionein-1 genotypes in the risk of oral squamous cell carcinoma. Ann Surg Oncol 2011;18:1478–1483.
   PubMed Web of Science ®Google Scholar
• Forma E, Krzeslak A, Wilkosz J, et al. Metallothionein 2A genetic polymorphisms and risk of prostate cancer in a Polish population. Cancer Genet 2012;205:432–435.
   PubMed Web of Science ®Google Scholar
• Wong RH, Huang CH, Yeh CB, et al. Effects of metallothionein-1 genetic polymorphism and cigarette smoking on the development of hepatocellular carcinoma. Ann Surg Oncol 2013;20:2088–2095.
   PubMed Web of Science ®Google Scholar
• Giacconi R, Muti E, Malavolta M, et al. The +838 C/G MT2A polymorphism, metals, and the inflammatory/immune response in carotid artery stenosis in elderly people. Molecular Med (Cambridge, Mass) 2007;13:388–395.
   PubMed Web of Science ®Google Scholar
• Chen Y, Bedell M, Zhang K. Age-related macular degeneration: Genetic and environmental factors of disease. Mol Interventions 2010;10:271–281.
   PubMed Web of Science ®Google Scholar
• Wang Y, Goodrich JM, Gillespie B, et al. An investigation of modifying effects of metallothionein single-nucleotide polymorphisms on the association between mercury exposure and biomarker levels. Environ Health Perspect 2012;120:530–534.
   PubMed Web of Science ®Google Scholar
• Raudenska M, Gumulec J, Podlaha O, et al. Metallothionein polymorphisms in pathological processes. Metallomics 2014;6:55–68.
   PubMed Web of Science ®Google Scholar
• Barrett JC, Fry B, Maller J, Daly MJ. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics (Oxford, England) 2005;21:263–265.
   PubMed Web of Science ®Google Scholar
• Armitage P, Berry G, Matthews J. Statistical methods in medical research. Oxford, 2002.
   Google Scholar
• Purcell S, Neale B, Todd-Brown K, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Human Genet 2007;81:559–575.
   PubMed Web of Science ®Google Scholar
• Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science (New York, NY) 2002;296:2225–2229.
   Google Scholar
• Kayaalti Z, Mergen G, Soylemezoglu T. Effect of metallothionein core promoter region polymorphism on cadmium, zinc and copper levels in autopsy kidney tissues from a Turkish population. Toxicol Appl Pharmacol 2010;245:252–255.
   PubMed Web of Science ®Google Scholar
• Kayaalti Z, Soylemezoglu T. The polymorphism of core promoter region on metallothionein 2A-metal binding protein in Turkish population. Mol Biol Rep 2010;37:185–190.
   PubMed Web of Science ®Google Scholar
• Kayaalti Z, Aliyev V, Soylemezoglu T. The potential effect of metallothionein 2A -5A/G single nucleotide polymorphism on blood cadmium, lead, zinc and copper levels. Toxicol Appl Pharmacol 2011;256:1–7.
   PubMed Web of Science ®Google Scholar
• Krzeslak A, Forma E, Chwatko G, et al. Effect of metallothionein 2A gene polymorphism on allele-specific gene expression and metal content in prostate cancer. Toxicol Appl Pharmacol 2013;268:278–285.
   PubMed Web of Science ®Google Scholar
• Krzeslak A, Forma E, Jozwiak P, et al. Metallothionein 2A genetic polymorphisms and risk of ductal breast cancer. Clin Exp Med 2014;14:107–113.
   PubMed Web of Science ®Google Scholar
• Adams SV, Barrick B, Christopher EP, et al. Genetic variation in metallothionein and metal-regulatory transcription factor 1 in relation to urinary cadmium, copper, and zinc. Toxicol Appl Pharmacol 2015;289:381–388.
   PubMed Web of Science ®Google Scholar
• Kita K, Miura N, Yoshida M, et al. Potential effect on cellular response to cadmium of a single-nucleotide A –> G polymorphism in the promoter of the human gene for metallothionein IIA. Human Genet 2006;120:553–560.
   PubMed Web of Science ®Google Scholar