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The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population
PURPOSE: To study whether presenilin 1 (PSEN1), apolipoprotein E (APOE), and kinesin light chain 1 (KLC1) genotypes are associated with the risk of developing age-related cortical cataracts in the Han Chinese population. METHODS: We collected and analyzed the blood samples of 227 cortical cataract p...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392836/ https://www.ncbi.nlm.nih.gov/pubmed/25883527 |
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author | Wu, Min Zheng, Can Yuan, Rong-Di Sun, Min Xu, Yan Ye, Jian |
author_facet | Wu, Min Zheng, Can Yuan, Rong-Di Sun, Min Xu, Yan Ye, Jian |
author_sort | Wu, Min |
collection | PubMed |
description | PURPOSE: To study whether presenilin 1 (PSEN1), apolipoprotein E (APOE), and kinesin light chain 1 (KLC1) genotypes are associated with the risk of developing age-related cortical cataracts in the Han Chinese population. METHODS: We collected and analyzed the blood samples of 227 cortical cataract patients and 263 controls. Genotyping was performed by direct sequencing after PCR amplification, and allele frequencies were tested for the Hardy–Weinberg equilibrium. RESULTS: The G allele and GG genotype of KLC1 rs8702 were significantly over-represented among cataract patients, as compared to healthy controls (allele P[χ2]=0.001 and genotype P[χ2]=0.008, respectively) and are associated with an odds ratio for cataract development of 1.54 (95% confidence interval of 1.19–2.01). More specifically, carrying the rs8702 C allele was associated with a decreased cortical cataract risk among individuals devoid of the APOE4 allele (OR=0.55; P[χ2]=0.003), whereas it has no significant effect among APOE4 carriers (OR=0.57; P[χ2]=0.36). CONCLUSIONS: The KLC1 and APOE genes may be novel susceptibility genes for age-related cataracts. |
format | Online Article Text |
id | pubmed-4392836 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-43928362015-04-16 The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population Wu, Min Zheng, Can Yuan, Rong-Di Sun, Min Xu, Yan Ye, Jian Mol Vis Research Article PURPOSE: To study whether presenilin 1 (PSEN1), apolipoprotein E (APOE), and kinesin light chain 1 (KLC1) genotypes are associated with the risk of developing age-related cortical cataracts in the Han Chinese population. METHODS: We collected and analyzed the blood samples of 227 cortical cataract patients and 263 controls. Genotyping was performed by direct sequencing after PCR amplification, and allele frequencies were tested for the Hardy–Weinberg equilibrium. RESULTS: The G allele and GG genotype of KLC1 rs8702 were significantly over-represented among cataract patients, as compared to healthy controls (allele P[χ2]=0.001 and genotype P[χ2]=0.008, respectively) and are associated with an odds ratio for cataract development of 1.54 (95% confidence interval of 1.19–2.01). More specifically, carrying the rs8702 C allele was associated with a decreased cortical cataract risk among individuals devoid of the APOE4 allele (OR=0.55; P[χ2]=0.003), whereas it has no significant effect among APOE4 carriers (OR=0.57; P[χ2]=0.36). CONCLUSIONS: The KLC1 and APOE genes may be novel susceptibility genes for age-related cataracts. Molecular Vision 2015-04-10 /pmc/articles/PMC4392836/ /pubmed/25883527 Text en Copyright © 2015 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed. |
spellingShingle | Research Article Wu, Min Zheng, Can Yuan, Rong-Di Sun, Min Xu, Yan Ye, Jian The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population |
title | The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population |
title_full | The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population |
title_fullStr | The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population |
title_full_unstemmed | The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population |
title_short | The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population |
title_sort | link between apolipoprotein e, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the chinese population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392836/ https://www.ncbi.nlm.nih.gov/pubmed/25883527 |
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