Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients
| Autor(a) principal: | |
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| Data de Publicação: | 2022 |
| Outros Autores: | , , , , , , |
| Tipo de documento: | Artigo |
| Título da fonte: | Repositório da Produção Científica e Intelectual da Unicamp |
| Texto Completo: | https://hdl.handle.net/20.500.12733/8112 |
Resumo: | Agradecimentos: This study was supported by National Council of Technological and Scientific Development (CNPq) [Grant #472645/2008] and by São Paulo Research Foundation (FAPESP) [grant 2010/18353–9] |
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Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patientsDegeneração macularGenéticaMacular degenerationGeneticsArtigo de pesquisaAgradecimentos: This study was supported by National Council of Technological and Scientific Development (CNPq) [Grant #472645/2008] and by São Paulo Research Foundation (FAPESP) [grant 2010/18353–9]Abstract: To analyze the correlations between age-related macular degeneration (AMD) and genetic and environmental risk factors for in a Brazilian population. Cross-sectional study with a control group. We collected data on 236 participants 50 years of age or older (141 with AMD and 95 controls without the disease). Data was obtained using a questionnaire and included information on demographics, ocular and medical history, family history of AMD, lifestyle, and smoking and drinking habits. Genetic evaluations included direct sequencing for the LOC387715 (rs10490924) variant, as well as PCR and enzymatic digestion for the CFH Y402H (rs1061170) and HTRA1 (rs11200638) variants. We performed a risk assessment of environmental risk factors and genetic variants associated with AMD and determined correlations between AMD and the data collected using multiple linear regression analysis. Of the 141 AMD cases, 99 (70%) had advanced AMD in at least one eye (57% neovascular AMD and 13% geographic atrophy), and 42 (30%) had not-advanced AMD. Family history of AMD (OR: 6.58; 95% CI: 1.94–22.31), presence of cardiovascular disease (CVD) (OR: 2.39; 95% CI: 1.08–5.28), low physical activity level (OR: 1.39; 95% CI: 0.82–2.37), and high serum cholesterol (OR: 1.49; 95% CI: 0.84–2.65) were associated with an increased risk for AMD. There was a significant association between CVD and incidence of advanced AMD (OR: 2.29; 95% CI 0.81–6.44). The OR for the risk allele of the LOC387715 gene, the CFH gene and the HTRA1 gene were 2.21 (95% CI: 1.47–3.35), 2.27 (95% CI: 1.52–3.37), and 2.76 (95% CI: 1.89–4.03), respectively. In the stepwise multiple linear regression analyses, the HTRA1 and CFH risk alleles, family history of AMD, the LOC387715 risk allele, and CVD were associated with an increased risk of AMD for a total of 25.6% contribution to the AMD phenotype. The analysis correlating environmental and genetic risk factors such as family history of AMD, and CVD and the variants of HTRA1, CFH, and LOC387715 genes showed an expressive contribution for the development of AMD among this admixed populationFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPCONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQAbertoUNIVERSIDADE ESTADUAL DE CAMPINASRim, Priscila Hae Hyun, 1960-Vasconcellos, José Paulo Cabral de, 1963-Melo, Mônica Barbosa de, 1968-Dezidério Sacconi, Daniela Prescila, 1988-Lana, Tamires Prates, 1992-Hirata, Fabio Endo, 1980-Magna, Luis Alberto, 1954-Marques-de-Faria, Antonia Paula, 1957-2022info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.12733/8112RIM, Priscila Hae Hyun et al. Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients. PLoS one. San Francisco, CA: Public Library of Science, 2022. Vol. 17, n. 6 (Jun., 2022), n. art. e0268795. Disponível em: https://hdl.handle.net/20.500.12733/8112. Acesso em: 24 mai. 2023.Inglêshttps://repositorio.unicamp.br/acervo/detalhe/1265668reponame:Repositório da Produção Científica e Intelectual da Unicampinstname:Universidade Estadual de Campinas (UNICAMP)instacron:UNICAMPinfo:eu-repo/semantics/openAccess2023-03-29T09:26:57Zoai:https://www.repositorio.unicamp.br/:1265668Repositório InstitucionalPUBhttp://repositorio.unicamp.br/oai/requestreposip@unicamp.bropendoar:2023-03-29T09:26:57Repositório da Produção Científica e Intelectual da Unicamp - Universidade Estadual de Campinas (UNICAMP)false |
| dc.title.none.fl_str_mv |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients |
| title |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients |
| spellingShingle |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients Rim, Priscila Hae Hyun, 1960- Degeneração macular Genética Macular degeneration Genetics Artigo de pesquisa |
| title_short |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients |
| title_full |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients |
| title_fullStr |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients |
| title_full_unstemmed |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients |
| title_sort |
Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients |
| author |
Rim, Priscila Hae Hyun, 1960- |
| author_facet |
Rim, Priscila Hae Hyun, 1960- Vasconcellos, José Paulo Cabral de, 1963- Melo, Mônica Barbosa de, 1968- Dezidério Sacconi, Daniela Prescila, 1988- Lana, Tamires Prates, 1992- Hirata, Fabio Endo, 1980- Magna, Luis Alberto, 1954- Marques-de-Faria, Antonia Paula, 1957- |
| author_role |
author |
| author2 |
Vasconcellos, José Paulo Cabral de, 1963- Melo, Mônica Barbosa de, 1968- Dezidério Sacconi, Daniela Prescila, 1988- Lana, Tamires Prates, 1992- Hirata, Fabio Endo, 1980- Magna, Luis Alberto, 1954- Marques-de-Faria, Antonia Paula, 1957- |
| author2_role |
author author author author author author author |
| dc.contributor.none.fl_str_mv |
UNIVERSIDADE ESTADUAL DE CAMPINAS |
| dc.contributor.author.fl_str_mv |
Rim, Priscila Hae Hyun, 1960- Vasconcellos, José Paulo Cabral de, 1963- Melo, Mônica Barbosa de, 1968- Dezidério Sacconi, Daniela Prescila, 1988- Lana, Tamires Prates, 1992- Hirata, Fabio Endo, 1980- Magna, Luis Alberto, 1954- Marques-de-Faria, Antonia Paula, 1957- |
| dc.subject.por.fl_str_mv |
Degeneração macular Genética Macular degeneration Genetics Artigo de pesquisa |
| topic |
Degeneração macular Genética Macular degeneration Genetics Artigo de pesquisa |
| description |
Agradecimentos: This study was supported by National Council of Technological and Scientific Development (CNPq) [Grant #472645/2008] and by São Paulo Research Foundation (FAPESP) [grant 2010/18353–9] |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2022 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
https://hdl.handle.net/20.500.12733/8112 RIM, Priscila Hae Hyun et al. Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients. PLoS one. San Francisco, CA: Public Library of Science, 2022. Vol. 17, n. 6 (Jun., 2022), n. art. e0268795. Disponível em: https://hdl.handle.net/20.500.12733/8112. Acesso em: 24 mai. 2023. |
| url |
https://hdl.handle.net/20.500.12733/8112 |
| identifier_str_mv |
RIM, Priscila Hae Hyun et al. Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients. PLoS one. San Francisco, CA: Public Library of Science, 2022. Vol. 17, n. 6 (Jun., 2022), n. art. e0268795. Disponível em: https://hdl.handle.net/20.500.12733/8112. Acesso em: 24 mai. 2023. |
| dc.language.iso.fl_str_mv |
Inglês |
| language_invalid_str_mv |
Inglês |
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https://repositorio.unicamp.br/acervo/detalhe/1265668 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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reponame:Repositório da Produção Científica e Intelectual da Unicamp instname:Universidade Estadual de Campinas (UNICAMP) instacron:UNICAMP |
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Universidade Estadual de Campinas (UNICAMP) |
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UNICAMP |
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UNICAMP |
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Repositório da Produção Científica e Intelectual da Unicamp |
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Repositório da Produção Científica e Intelectual da Unicamp |
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Repositório da Produção Científica e Intelectual da Unicamp - Universidade Estadual de Campinas (UNICAMP) |
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reposip@unicamp.br |
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