Skip to main content
Top
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology 2/2016

01-02-2016 | Genetics

ABCA1 rs1883025 polymorphism and risk of age-related macular degeneration

Authors: Yafeng Wang, Mingxu Wang, Yue Han, Rui Zhang, Le Ma

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 2/2016

Login to get access

Abstract

Purpose

To evaluate the association of the ABCA1 rs1883025 polymorphism and susceptibility to age-related macular degeneration (AMD).

Methods

A systematic search of the PubMed, EMBASE, and ISI web of science databases was performed to identify eligible published studies without language restrictions up to September 2015. Pooled odds ratios (ORs) with 95 % confidence intervals (CIs) were estimated under different genetic models using meta-analytic methods. Stratified analysis and sensitivity analysis were performed to explore potential sources of heterogeneity.

Results

A total of 12 articles with 25,445 cases and 36,460 controls were eligible in this meta-analysis. The ABCA1 rs1883025 variant showed significant association with the lower risk of overall AMD under the allelic model (OR= 0.81, 95   %   CI=0.74–0.89). Stratified analysis based on ethnicity demonstrated a strong association between rs1883025 polymorphism and AMD in the Caucasian population, but not in Asian population. For late AMD, the ABCA1 rs1883025 variant was observed to have a significant association with the lower risk of this disease (OR = 0.81, 95 % CI, 0.72–0.91). In early-stage AMD, significant associations of the rs1883025 polymorphism with lower risk of early AMD were observed in different genetic models (OR ranging from 0.45 to 0.65, all P < 0.05).

Conclusions

The present meta-analysis indicated that the T allelic in rs1883025 variant was significantly associated with the risk of developing AMD, particularly at the early stage. The associations of the ABCA1 locus with AMD risk in various populations need further exploration.
Literature
1.
go back to reference Jager RD, Mieler WF, Miller JW (2008) Age-related macular degeneration. N Engl J Med 358:2606–2617PubMedCrossRef Jager RD, Mieler WF, Miller JW (2008) Age-related macular degeneration. N Engl J Med 358:2606–2617PubMedCrossRef
2.
go back to reference Koskela A, Reinisalo M, Hyttinen JM, Kaarniranta K, Karjalainen RO (2014) Pinosylvin-mediated protection against oxidative stress in human retinal pigment epithelial cells. Mol Vis 20:760–769PubMedPubMedCentral Koskela A, Reinisalo M, Hyttinen JM, Kaarniranta K, Karjalainen RO (2014) Pinosylvin-mediated protection against oxidative stress in human retinal pigment epithelial cells. Mol Vis 20:760–769PubMedPubMedCentral
3.
go back to reference Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL, Complications of Age-Related Macular Degeneration Prevention Trial Research Group, Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A 107:7401–7406PubMedPubMedCentralCrossRef Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL, Complications of Age-Related Macular Degeneration Prevention Trial Research Group, Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A 107:7401–7406PubMedPubMedCentralCrossRef
4.
go back to reference Peter I, Huggins GS, Ordovas JM, Haan M, Seddon JM (2011) Evaluation of new and established age-related macular degeneration susceptibility genes in the Women’s Health Initiative Sight Exam (WHI-SE) study. Am J Ophthalmol 152:1005–1013PubMedPubMedCentralCrossRef Peter I, Huggins GS, Ordovas JM, Haan M, Seddon JM (2011) Evaluation of new and established age-related macular degeneration susceptibility genes in the Women’s Health Initiative Sight Exam (WHI-SE) study. Am J Ophthalmol 152:1005–1013PubMedPubMedCentralCrossRef
5.
go back to reference Wang H, Hu Y, Zhang G, Zheng J, Li L, An Z (2014) Meta-analysis of vaccine effectiveness of mumps-containing vaccine under different immunization strategies in China. Vaccine 32:4806–4812PubMedCrossRef Wang H, Hu Y, Zhang G, Zheng J, Li L, An Z (2014) Meta-analysis of vaccine effectiveness of mumps-containing vaccine under different immunization strategies in China. Vaccine 32:4806–4812PubMedCrossRef
6.
go back to reference Stroup DF, Berlin JA, Morton SC, Olkin I, Williamson GD, Rennie D, Moher D, Becker BJ, Sipe TA, Thacker SB (2000) Meta-analysis of observational studies in epidemiology: a proposal for reporting. Meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. JAMA 283:2008–2012PubMedCrossRef Stroup DF, Berlin JA, Morton SC, Olkin I, Williamson GD, Rennie D, Moher D, Becker BJ, Sipe TA, Thacker SB (2000) Meta-analysis of observational studies in epidemiology: a proposal for reporting. Meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. JAMA 283:2008–2012PubMedCrossRef
7.
go back to reference Fauser S, Smailhodzic D, Caramoy A, van de Ven JP, Kirchhof B, Hoyng CB, Klevering BJ, Liakopoulos S, den Hollander AI (2011) Evaluation of serum lipid concentrations and genetic variants at high-density lipoprotein metabolism loci and TIMP3 in age-related macular degeneration. Invest Ophthalmol Vis Sci 52:5525–5528PubMedCrossRef Fauser S, Smailhodzic D, Caramoy A, van de Ven JP, Kirchhof B, Hoyng CB, Klevering BJ, Liakopoulos S, den Hollander AI (2011) Evaluation of serum lipid concentrations and genetic variants at high-density lipoprotein metabolism loci and TIMP3 in age-related macular degeneration. Invest Ophthalmol Vis Sci 52:5525–5528PubMedCrossRef
8.
go back to reference Li F, Li Y, Li M, Sun Y, Bai Y, Yang F, Guo J, Chen Y, Huang L, Li X (2014) ABCA1 rs1883025 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Northern Chinese population. Ophthalmic Res 51:210–215PubMedCrossRef Li F, Li Y, Li M, Sun Y, Bai Y, Yang F, Guo J, Chen Y, Huang L, Li X (2014) ABCA1 rs1883025 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in a Northern Chinese population. Ophthalmic Res 51:210–215PubMedCrossRef
9.
go back to reference Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM (2010) Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A 107:7395–7400PubMedPubMedCentralCrossRef Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM (2010) Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A 107:7395–7400PubMedPubMedCentralCrossRef
10.
go back to reference Yu Y, Reynolds R, Fagerness J, Rosner B, Daly MJ, Seddon JM (2011) Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Invest Ophthalmol Vis Sci 52:4663–4670PubMedPubMedCentralCrossRef Yu Y, Reynolds R, Fagerness J, Rosner B, Daly MJ, Seddon JM (2011) Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Invest Ophthalmol Vis Sci 52:4663–4670PubMedPubMedCentralCrossRef
11.
go back to reference Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, Tan PL, Souied EH, Richardson AJ, Merriam JE, Buitendijk GH, Reynolds R, Raychaudhuri S, Chin KA, Sobrin L, Evangelou E, Lee PH, Lee AY, Leveziel N, Zack DJ, Campochiaro B, Campochiaro P, Smith RT, Barile GR, Guymer RH, Hogg R, Chakravarthy U, Robman LD, Gustafsson O, Sigurdsson H, Ortmann W, Behrens TW, Stefansson K, Uitterlinden AG, van Duijn CM, Vingerling JR, Klaver CC, Allikmets R, Brantley MA Jr, Baird PN, Katsanis N, Thorsteinsdottir U, Ioannidis JP, Daly MJ, Graham RR, Seddon JM (2011) Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet 20:3699–3709PubMedPubMedCentralCrossRef Yu Y, Bhangale TR, Fagerness J, Ripke S, Thorleifsson G, Tan PL, Souied EH, Richardson AJ, Merriam JE, Buitendijk GH, Reynolds R, Raychaudhuri S, Chin KA, Sobrin L, Evangelou E, Lee PH, Lee AY, Leveziel N, Zack DJ, Campochiaro B, Campochiaro P, Smith RT, Barile GR, Guymer RH, Hogg R, Chakravarthy U, Robman LD, Gustafsson O, Sigurdsson H, Ortmann W, Behrens TW, Stefansson K, Uitterlinden AG, van Duijn CM, Vingerling JR, Klaver CC, Allikmets R, Brantley MA Jr, Baird PN, Katsanis N, Thorsteinsdottir U, Ioannidis JP, Daly MJ, Graham RR, Seddon JM (2011) Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet 20:3699–3709PubMedPubMedCentralCrossRef
12.
go back to reference Sobrin L, Ripke S, Yu Y, Fagerness J, Bhangale TR, Tan PL, Souied EH, Buitendijk GH, Merriam JE, Richardson AJ, Raychaudhuri S, Reynolds R, Chin KA, Lee AY, Leveziel N, Zack DJ, Campochiaro P, Smith RT, Barile GR, Hogg RE, Chakravarthy U, Behrens TW, Uitterlinden AG, van Duijn CM, Vingerling JR, Brantley MA Jr, Baird PN, Klaver CC, Allikmets R, Katsanis N, Graham RR, Ioannidis JP, Daly MJ, Seddon JM (2012) Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology 119:1874–1885PubMedPubMedCentralCrossRef Sobrin L, Ripke S, Yu Y, Fagerness J, Bhangale TR, Tan PL, Souied EH, Buitendijk GH, Merriam JE, Richardson AJ, Raychaudhuri S, Reynolds R, Chin KA, Lee AY, Leveziel N, Zack DJ, Campochiaro P, Smith RT, Barile GR, Hogg RE, Chakravarthy U, Behrens TW, Uitterlinden AG, van Duijn CM, Vingerling JR, Brantley MA Jr, Baird PN, Klaver CC, Allikmets R, Katsanis N, Graham RR, Ioannidis JP, Daly MJ, Seddon JM (2012) Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology 119:1874–1885PubMedPubMedCentralCrossRef
13.
go back to reference Zhang X, Li M, Wen F, Zuo C, Chen H, Wu K, Zeng R (2013) Different impact of high-density lipoprotein-related genetic variants on polypoidal choroidal vasculopathy and neovascular age-related macular degeneration in a Chinese Han population. Exp Eye Res 108:16–22PubMedCrossRef Zhang X, Li M, Wen F, Zuo C, Chen H, Wu K, Zeng R (2013) Different impact of high-density lipoprotein-related genetic variants on polypoidal choroidal vasculopathy and neovascular age-related macular degeneration in a Chinese Han population. Exp Eye Res 108:16–22PubMedCrossRef
14.
go back to reference Merle BM, Maubaret C, Korobelnik JF, Delyfer MN, Rougier MB, Lambert JC, Amouyel P, Malet F, Le Goff M, Dartigues JF, Barberger-Gateau P, Delcourt C (2013) Association of HDL-related loci with age-related macular degeneration and plasma lutein and zeaxanthin: the Alienor study. PLoS One 8:e79848PubMedPubMedCentralCrossRef Merle BM, Maubaret C, Korobelnik JF, Delyfer MN, Rougier MB, Lambert JC, Amouyel P, Malet F, Le Goff M, Dartigues JF, Barberger-Gateau P, Delcourt C (2013) Association of HDL-related loci with age-related macular degeneration and plasma lutein and zeaxanthin: the Alienor study. PLoS One 8:e79848PubMedPubMedCentralCrossRef
15.
go back to reference Dietzel M, Pauleikhoff D, Arning A, Heimes B, Lommatzsch A, Stoll M, Hense HW (2014) The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol 252:1273–1281PubMedCrossRef Dietzel M, Pauleikhoff D, Arning A, Heimes B, Lommatzsch A, Stoll M, Hense HW (2014) The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol 252:1273–1281PubMedCrossRef
16.
go back to reference Wang D, Zhou J, Hou X, Nguyen DH, Cao G, Li G, Qiu G, Zhang K, Zhang M, Su Z (2015) CETP Gene may be Associated with Advanced Age-related Macular Degeneration in the Chinese Population. Ophthalmic Genet Wang D, Zhou J, Hou X, Nguyen DH, Cao G, Li G, Qiu G, Zhang K, Zhang M, Su Z (2015) CETP Gene may be Associated with Advanced Age-related Macular Degeneration in the Chinese Population. Ophthalmic Genet
17.
go back to reference Kaemmerer E, Schutt F, Krohne TU, Holz FG, Kopitz J (2007) Effects of lipid peroxidation-related protein modifications on RPE lysosomal functions and POS phagocytosis. Invest Ophthalmol Vis Sci 48:1342–1347PubMedCrossRef Kaemmerer E, Schutt F, Krohne TU, Holz FG, Kopitz J (2007) Effects of lipid peroxidation-related protein modifications on RPE lysosomal functions and POS phagocytosis. Invest Ophthalmol Vis Sci 48:1342–1347PubMedCrossRef
18.
go back to reference Blasiak J, Petrovski G, Veréb Z, Facskó A, Kaarniranta K (2014) Oxidative stress, hypoxia, and autophagy in the neovascular processes of age-related macular degeneration. Biomed Res Int 2014:768026PubMedPubMedCentralCrossRef Blasiak J, Petrovski G, Veréb Z, Facskó A, Kaarniranta K (2014) Oxidative stress, hypoxia, and autophagy in the neovascular processes of age-related macular degeneration. Biomed Res Int 2014:768026PubMedPubMedCentralCrossRef
19.
go back to reference Wang AL, Lukas TJ, Yuan M, Du N, Tso MO, Neufeld AH (2009) Autophagy, exosomes and drusen formation in age-related macular degeneration. Autophagy 5:563–564PubMedCrossRef Wang AL, Lukas TJ, Yuan M, Du N, Tso MO, Neufeld AH (2009) Autophagy, exosomes and drusen formation in age-related macular degeneration. Autophagy 5:563–564PubMedCrossRef
20.
go back to reference Duncan KG, Hosseini K, Bailey KR, Yang H, Lowe RJ, Matthes MT, Kane JP, LaVail MM, Schwartz DM, Duncan JL (2009) Expression of reverse cholesterol transport proteins ATP binding cassette A1 (ABCA1) and scavenger receptor BI (SR-BI) in the retina and retinal pigment epithelium. Br J Ophthalmol 93:1116–1120PubMedPubMedCentralCrossRef Duncan KG, Hosseini K, Bailey KR, Yang H, Lowe RJ, Matthes MT, Kane JP, LaVail MM, Schwartz DM, Duncan JL (2009) Expression of reverse cholesterol transport proteins ATP binding cassette A1 (ABCA1) and scavenger receptor BI (SR-BI) in the retina and retinal pigment epithelium. Br J Ophthalmol 93:1116–1120PubMedPubMedCentralCrossRef
21.
go back to reference Ebrahimi KB, Fijalkowski N, Cano M, Handa JT (2014) Oxidized low-density-lipoprotein-induced injury in retinal pigment epithelium alters expression of the membrane complement regulatory factors CD46 and CD59 through exosomal and apoptotic bleb release. Adv Exp Med Biol 801:259–265PubMedCrossRef Ebrahimi KB, Fijalkowski N, Cano M, Handa JT (2014) Oxidized low-density-lipoprotein-induced injury in retinal pigment epithelium alters expression of the membrane complement regulatory factors CD46 and CD59 through exosomal and apoptotic bleb release. Adv Exp Med Biol 801:259–265PubMedCrossRef
22.
go back to reference Augustin AJ, Kirchhof J (2009) Inflammation and the pathogenesis of age-related macular degeneration. Expert Opin Ther Targets 13:641–613PubMedCrossRef Augustin AJ, Kirchhof J (2009) Inflammation and the pathogenesis of age-related macular degeneration. Expert Opin Ther Targets 13:641–613PubMedCrossRef
23.
go back to reference Ishida BY, Duncan KG, Bailey KR, Kane JP, Schwartz DM (2006) High density lipoprotein mediated lipid efflux from retinal pigment epithelial cells in culture. Br J Ophthalmol 90:616–620PubMedPubMedCentralCrossRef Ishida BY, Duncan KG, Bailey KR, Kane JP, Schwartz DM (2006) High density lipoprotein mediated lipid efflux from retinal pigment epithelial cells in culture. Br J Ophthalmol 90:616–620PubMedPubMedCentralCrossRef
24.
go back to reference Langmann T, Mauerer R, Zahn A, Moehle C, Probst M, Stremmel W, Schmitz G (2003) Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Clin Chem 49:230–238PubMedCrossRef Langmann T, Mauerer R, Zahn A, Moehle C, Probst M, Stremmel W, Schmitz G (2003) Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Clin Chem 49:230–238PubMedCrossRef
25.
go back to reference Lucas AD, Greaves DR (2001) Atherosclerosis: role of chemokines and macrophages. Expert Rev Mol Med 3:1–18PubMedCrossRef Lucas AD, Greaves DR (2001) Atherosclerosis: role of chemokines and macrophages. Expert Rev Mol Med 3:1–18PubMedCrossRef
26.
go back to reference Tang C, Liu Y, Kessler PS, Vaughan AM, Oram JF (2009) The macrophage cholesterol exporter ABCA1 functions as an anti-inflammatory receptor. J Biol Chem 284:32336–32343PubMedPubMedCentralCrossRef Tang C, Liu Y, Kessler PS, Vaughan AM, Oram JF (2009) The macrophage cholesterol exporter ABCA1 functions as an anti-inflammatory receptor. J Biol Chem 284:32336–32343PubMedPubMedCentralCrossRef
27.
go back to reference Yvan-Charvet L, Wang N, Tall AR (2010) Role of HDL, ABCA1, and ABCG1 transporters in cholesterol efflux and immune responses. Arterioscler Thromb Vasc Biol 30:139–143PubMedPubMedCentralCrossRef Yvan-Charvet L, Wang N, Tall AR (2010) Role of HDL, ABCA1, and ABCG1 transporters in cholesterol efflux and immune responses. Arterioscler Thromb Vasc Biol 30:139–143PubMedPubMedCentralCrossRef
28.
go back to reference Huang C, Xu Y, Li X, Wang W (2013) Vascular endothelial growth factor A polymorphisms and age-related macular degeneration: a systematic review and meta-analysis. Mol Vis 19:1211–1221PubMedPubMedCentral Huang C, Xu Y, Li X, Wang W (2013) Vascular endothelial growth factor A polymorphisms and age-related macular degeneration: a systematic review and meta-analysis. Mol Vis 19:1211–1221PubMedPubMedCentral
Metadata
Title
ABCA1 rs1883025 polymorphism and risk of age-related macular degeneration
Authors
Yafeng Wang
Mingxu Wang
Yue Han
Rui Zhang
Le Ma
Publication date
01-02-2016
Publisher
Springer Berlin Heidelberg
Published in
Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 2/2016
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI
https://doi.org/10.1007/s00417-015-3211-z

Other articles of this Issue 2/2016

Graefe's Archive for Clinical and Experimental Ophthalmology 2/2016 Go to the issue

Letter to the Editor (by invitation)

Detecting the effect of under-correcting myopia