Association Analysis of CFH and ARMS2 Gene Polymorphisms in a Brazilian Cohort with Age-Related Macular Degeneration

被引：11

作者：

Almeida, Luciana N. ^{[1
]}

Melilo-Carolino, Rachel ^{[2
]}

Veloso, Carlos E. ^{[1
]}

Pereira, Patricia A. ^{[2
]}

Bastos-Rodrigues, Luciana ^{[2
]}

Sarubi, Helena ^{[2
]}

Miranda, Debora M. ^{[3
]}

Soubrane, Gisele ^{[4
]}

De Marco, Luiz ^{[2
]}

Nehemy, Marcio B. ^{[1
]}

机构：

[1] Univ Fed Minas Gerais, Fac Med, Dept Ophthalmol, Belo Horizonte, MG, Brazil

[2] Univ Fed Minas Gerais, Dept Surg, Fac Med, Belo Horizonte, MG, Brazil

[3] Univ Fed Minas Gerais, Dept Pediat, Fac Med, Belo Horizonte, MG, Brazil

[4] Univ Paris, Dept Ophthalmol, F-75252 Paris, France

来源：

OPHTHALMIC RESEARCH | 2013年 / 50卷 / 02期

关键词：

AMD; CFH; ARMS2; Polymorphism; CNV; Brazilian population; COMPLEMENT FACTOR-H; CIGARETTE-SMOKING; GENOMIC ANCESTRY; FACTOR-B; SUSCEPTIBILITY; LOC387715; RISK; VARIANTS; INFLAMMATION; MACULOPATHY;

D O I：

10.1159/000350549

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose: To investigate the association between the CFH and ARMS2 gene polymorphisms and age-related macular degeneration (AMD) in a Brazilian cohort. Methods: We examined 163 individuals with AMD and 154 controls recruited at the Department of Ophthalmology of the Universidade Federal de Minas Gerais, at the Institut da Visao, and at the Centro Especializado em Olhos, in Brazil, between 2007 and 2012. Genotyping for CFH rs1061170 and ARMS2 rs10490924 single-nucleotide polymorphisms was performed. The odds ratios (OR) for all of the studied genotypes (heterozygous and homozygous) of both genes were calculated compared to homozygous ancestral alleles. Results: Homozygosity for the CFH and ARMS2 at-risk allele was 33.3 and 23.6%, respectively, for AMD individuals and 10.3 and 7.1%, respectively, for controls (p<0.0001). The OR was 7.2 (95% CI 3.6-14.5; p < 0.001) for the CFH at-risk genotype (CC) and 5.5 (95% CI 2.6-11.8; p < 0.0001) for ARMS2 (TT). Subjects homozygous for both polymorphisms had a much higher risk of developing AMD (n = 14 patients, OR 33.3, 95% CI 12.8-86.4). The proportion of ancestry in each group indicated that AMD patients had a higher European (Caucasian) component than controls. Conclusion: CFH and ARMS2 polymorphisms were strongly associated with AMD in this Brazilian cohort. Copyright (C) 2013 S. Karger AG, Basel

引用

页码：117 / 122

页数：6

共 38 条

[1] Homozygosity for the +674C>T polymorphism on VEGF gene is associated with age-related macular degeneration in a Brazilian cohort [J].

Almeida, Luciana N. ;

Melilo-Carolino, Rachel ;

Veloso, Carlos E. ;

Pereira, Patricia A. ;

Miranda, Debora M. ;

De Marco, Luiz Armando ;

Nehemy, Marcio Bittar .

GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2012, 250 (02) :185-189

[2] The genetic structure of human populations studied through short insertion-deletion polymorphisms [J].

Bastos-Rodrigues, Luciana ;

Pimenta, Juliana R. ;

Pena, Sergio D. J. .

ANNALS OF HUMAN GENETICS, 2006, 70 :658-665

[3] Basal laminar drusen caused by compound heterozygous variants in the CFH gene [J].

Boon, Camiel J. E. ;

Klevering, B. Jeroen ;

Hoyng, Carel B. ;

Zonneveld-Vrieling, Marijke N. ;

Nabuurs, Sander B. ;

Blokland, Ellen ;

Cremers, Frans P. M. ;

den Hollander, Anneke I. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (02) :516-523

[4] VEGF polymorphisms are associated with neovascular age-related macular degeneration [J].

Churchill, Amanda J. ;

Carter, James G. ;

Lovell, Helen C. ;

Ramsden, Conor ;

Turner, Steven J. ;

Yeung, Anna ;

Escardo, Julia ;

Atan, Denize .

HUMAN MOLECULAR GENETICS, 2006, 15 (19) :2955-2961

[5] Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration [J].

DeAngelis, Margaret M. ;

Ji, Fei ;

Kim, Ivana K. ;

Adams, Scott ;

Capone, Antonio, Jr. ;

Ott, Jurg ;

Miller, Joan W. ;

Dryja, Thaddeus P. .

ARCHIVES OF OPHTHALMOLOGY, 2007, 125 (01) :49-54

[6] The role of inflammation in the pathogenesis of age-related macular degeneration [J].

Donoso, LA ;

Kim, D ;

Frost, A ;

Callahan, A ;

Hageman, G .

SURVEY OF OPHTHALMOLOGY, 2006, 51 (02) :137-152

[7] Complement factor H polymorphism and age-related macular degeneration [J].

Edwards, AO ;

Ritter, R ;

Abel, KJ ;

Manning, A ;

Panhuysen, C ;

Farrer, LA .

SCIENCE, 2005, 308 (5720) :421-424

[8] Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA [J].

Fritsche, Lars G. ;

Loenhardt, Thomas ;

Janssen, Andreas ;

Fisher, Sheila A. ;

Rivera, Andrea ;

Keilhauer, Claudia N. ;

Weber, Bernhard H. F. .

NATURE GENETICS, 2008, 40 (07) :892-896

[9] Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration [J].

Gold, B ;

Merriam, JE ;

Zernant, J ;

Hancox, LS ;

Taiber, AJ ;

Gehrs, K ;

Cramer, K ;

Neel, J ;

Bergeron, J ;

Barile, GR ;

Smith, RT ;

Dean, M ;

Allikmets, R .

NATURE GENETICS, 2006, 38 (04) :458-462

[10] A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration [J].

Hageman, GS ;

Anderson, DH ;

Johnson, LV ;

Hancox, LS ;

Taiber, AJ ;

Hardisty, LI ;

Hageman, JL ;

Stockman, HA ;

Borchardt, JD ;

Gehrs, KM ;

Smith, RJH ;

Silvestri, G ;

Russell, SR ;

Klaver, CCW ;

Barbazetto, I ;

Chang, S ;

Yannuzzi, LA ;

Barile, GR ;

Merriam, JC ;

Smith, RT ;

Olsh, AK ;

Bergeron, J ;

Zernant, J ;

Merriam, JE ;

Gold, B ;

Dean, M ;

Allikmets, R .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (20) :7227-7232

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