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SERPING1 polymorphisms in polypoidal choroidal vasculopathy
PURPOSE: To investigate whether common genetic variants in the complement component 1 inhibitor gene (serpin peptidase inhibitor, clade G, member 1, SERPING1) are associated with polypoidal choroidal vasculopathy (PCV) in a Chinese Han population. METHODS: DNA samples were obtained from 118 PCV pati...
Autores principales: | , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822549/ https://www.ncbi.nlm.nih.gov/pubmed/20161815 |
_version_ | 1782177536445251584 |
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author | Li, Meng Wen, Feng Zuo, Chengguo Zhang, Xiongze Chen, Hui Huang, Shizhou Luo, Guangwei |
author_facet | Li, Meng Wen, Feng Zuo, Chengguo Zhang, Xiongze Chen, Hui Huang, Shizhou Luo, Guangwei |
author_sort | Li, Meng |
collection | PubMed |
description | PURPOSE: To investigate whether common genetic variants in the complement component 1 inhibitor gene (serpin peptidase inhibitor, clade G, member 1, SERPING1) are associated with polypoidal choroidal vasculopathy (PCV) in a Chinese Han population. METHODS: DNA samples were obtained from 118 PCV patients and 115 healthy subjects. Data derived from the HapMap project were used to select tag single nucleotide polymorphisms (SNPs) across the extended SERPING1 region. A previously reported age-related macular degeneration-related risk factor (rs2511989) was forcibly included. Genotyping of each tag SNP was performed by PCR restriction fragment length polymorphism and direct DNA sequencing techniques. RESULTS: Four SNPs for SERPING1, rs2509897, rs1005510, rs11603020, and rs2511989, were chosen as tag SNPs. None of these tag SNPs were associated with PCV, according to the single-SNP association test (p=0.41–0.83). Evaluation of common haplotypes across SERPING1 did not reveal any association with PCV (p=0.49–0.82). CONCLUSIONS: We found no evidence to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to PCV in a Chinese Han population. |
format | Text |
id | pubmed-2822549 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-28225492010-02-16 SERPING1 polymorphisms in polypoidal choroidal vasculopathy Li, Meng Wen, Feng Zuo, Chengguo Zhang, Xiongze Chen, Hui Huang, Shizhou Luo, Guangwei Mol Vis Research Article PURPOSE: To investigate whether common genetic variants in the complement component 1 inhibitor gene (serpin peptidase inhibitor, clade G, member 1, SERPING1) are associated with polypoidal choroidal vasculopathy (PCV) in a Chinese Han population. METHODS: DNA samples were obtained from 118 PCV patients and 115 healthy subjects. Data derived from the HapMap project were used to select tag single nucleotide polymorphisms (SNPs) across the extended SERPING1 region. A previously reported age-related macular degeneration-related risk factor (rs2511989) was forcibly included. Genotyping of each tag SNP was performed by PCR restriction fragment length polymorphism and direct DNA sequencing techniques. RESULTS: Four SNPs for SERPING1, rs2509897, rs1005510, rs11603020, and rs2511989, were chosen as tag SNPs. None of these tag SNPs were associated with PCV, according to the single-SNP association test (p=0.41–0.83). Evaluation of common haplotypes across SERPING1 did not reveal any association with PCV (p=0.49–0.82). CONCLUSIONS: We found no evidence to support the role of any common SERPING1 variants, including the rs2511989 variant, in the susceptibility to PCV in a Chinese Han population. Molecular Vision 2010-02-16 /pmc/articles/PMC2822549/ /pubmed/20161815 Text en Copyright © 2010 Molecular Vision. http://creativecommons.org/licenses/by/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. |
spellingShingle | Research Article Li, Meng Wen, Feng Zuo, Chengguo Zhang, Xiongze Chen, Hui Huang, Shizhou Luo, Guangwei SERPING1 polymorphisms in polypoidal choroidal vasculopathy |
title | SERPING1 polymorphisms in polypoidal choroidal vasculopathy |
title_full | SERPING1 polymorphisms in polypoidal choroidal vasculopathy |
title_fullStr | SERPING1 polymorphisms in polypoidal choroidal vasculopathy |
title_full_unstemmed | SERPING1 polymorphisms in polypoidal choroidal vasculopathy |
title_short | SERPING1 polymorphisms in polypoidal choroidal vasculopathy |
title_sort | serping1 polymorphisms in polypoidal choroidal vasculopathy |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822549/ https://www.ncbi.nlm.nih.gov/pubmed/20161815 |
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