Literature DB >> 33467888

Evaluation of APOE polymorphisms and the risk for age-related macular degeneration in a Southeastern Brazilian population.

Marina Gm Viturino1, Jamil M Neto1, Flávia F Bajano2, Sueli Ms Costa2, Alicia B Roque1, Gessica Fs Borges1, Galina Ananina2, Priscila Hh Rim1, Flávio M Medina3, Fernando F Costa4, José Pc de Vasconcellos1, Mônica B de Melo2.   

Abstract

This study aimed to evaluate the role of APOE polymorphisms (rs429358 and rs7412) in the risk of age-related macular degeneration in a sample of the Southeastern Brazilian population. Seven hundred and five unrelated individuals were analyzed, 334 with age-related macular degeneration (case group), and 371 without the disease (control group). In the case group, patients were further stratified according to disease phenotypes, divided into dry and wet age-related macular degeneration, and non-advanced and advanced age-related macular degeneration. APOE polymorphisms (rs429358 and rs7412) were evaluated through polymerase chain reaction and direct sequencing. In the comparison of cases vs. controls, none of the associations reached statistical significance, considering the Bonferroni-adjusted P-value, although there was a suggestive protection for the E3/E4 genotype (OR = 0.626; P-value = 0.037) and E4 carriers (OR = 0.6515; P-value = 0.047). Statistically significant protection for both the E3/E4 genotype and E4 carriers was observed in the comparisons: advanced age-related macular degeneration vs. controls (OR = 0.3665, P-value = 0.491 × 10-3 and OR = 0.4031, P-value = 0.814 × 10-3, respectively), advanced age-related macular degeneration vs. non-advanced age-related macular degeneration (OR = 0.2529, P-value = 0.659 × 10-4 and OR = 0.2692, P-value = 0.631 × 10-4, respectively). In the comparison of wet age-related macular degeneration vs. control, protection was statistically significant only for E3/E4 (OR = 0.4052, P-value = 0.001). None of the comparisons demonstrated any significant association for E2 genotypes or E2 carriers in age-related macular degeneration risk in this study. Findings suggest a protective role of the E4 haplotype in the APOE gene in the risk for advanced and wet forms of age-related macular degeneration, in a sample of the Brazilian population. To our knowledge, this is the first Brazilian study to show the association between APOE polymorphisms and age-related macular degeneration.

Entities:  

Keywords:  Apolipoprotein E; age-related macular degeneration; genetic risk; lipid transport pathway; pathogenesis; polymorphism

Mesh：

Substances：

Year:  2021        PMID： 33467888      PMCID： PMC8142112          DOI： 10.1177/1535370220985466

Source DB:  PubMed          Journal:  Exp Biol Med (Maywood)        ISSN： 1535-3699


  34 in total

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Authors:  C P Pang; L Baum; W M Chan; T C Lau; P M Poon; D S Lam
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3.  The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE-E2 allele in the wet form in a Northern Spanish population.

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4.  An apolipoprotein E variant may protect against age-related macular degeneration through cytokine regulation.

Authors:  Christine M Bojanowski; Defen Shen; Emily Y Chew; Baitang Ning; Karl G Csaky; W Richard Green; Chi-Chao Chan; Jingsheng Tuo
Journal:  Environ Mol Mutagen       Date:  2006-10       Impact factor: 3.216

5.  Joint effects of smoking history and APOE genotypes in age-related macular degeneration.

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6.  Apolipoprotein E gene associations in age-related macular degeneration: the Melbourne Collaborative Cohort Study.

Authors:  Madeleine K M Adams; Julie A Simpson; Andrea J Richardson; Dallas R English; Khin Zaw Aung; Galina A Makeyeva; Robyn H Guymer; Graham G Giles; John Hopper; Liubov D Robman; Paul N Baird
Journal:  Am J Epidemiol       Date:  2012-02-10       Impact factor: 4.897

7.  Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration.

Authors:  Dennis W Schultz; Michael L Klein; Andrea Humpert; Jacek Majewski; Mitchell Schain; Richard G Weleber; Jurg Ott; Ted S Acott
Journal:  Arch Ophthalmol       Date:  2003-05

8.  A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy.

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Journal:  Ophthalmic Genet       Date:  2002-12       Impact factor: 1.803

9.  Apolipoprotein E promotes subretinal mononuclear phagocyte survival and chronic inflammation in age-related macular degeneration.

Authors:  Olivier Levy; Bertrand Calippe; Sophie Lavalette; Shulong J Hu; William Raoul; Elisa Dominguez; Michael Housset; Michel Paques; José-Alain Sahel; Alexis-Pierre Bemelmans; Christophe Combadiere; Xavier Guillonneau; Florian Sennlaub
Journal:  EMBO Mol Med       Date:  2015-02       Impact factor: 12.137

Review 10.  Genetics and age-related macular degeneration: a practical review for the clinician.

Authors:  Stephen G Schwartz; Blake M Hampton; Jaclyn L Kovach; Milam A Brantley
Journal:  Clin Ophthalmol       Date:  2016-07-04
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  2 in total

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  2 in total

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