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TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome
BACKGROUND: This study was performed to evaluate the potential association of TNFAIP3 polymorphisms with Vogt–Koyanagi–Harada (VKH) disease in a Chinese Han population. METHODOLOGY/PRINCIPAL FINDINGS: Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928 and rs94948...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605404/ https://www.ncbi.nlm.nih.gov/pubmed/23555688 http://dx.doi.org/10.1371/journal.pone.0059515 |
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author | Li, Hong Liu, Qing Hou, Shengping Du, Liping Zhou, Qingyun Zhou, Yan Kijlstra, Aize Yang, Peizeng |
author_facet | Li, Hong Liu, Qing Hou, Shengping Du, Liping Zhou, Qingyun Zhou, Yan Kijlstra, Aize Yang, Peizeng |
author_sort | Li, Hong |
collection | PubMed |
description | BACKGROUND: This study was performed to evaluate the potential association of TNFAIP3 polymorphisms with Vogt–Koyanagi–Harada (VKH) disease in a Chinese Han population. METHODOLOGY/PRINCIPAL FINDINGS: Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were genotyped in 834 VKH disease patients and 1415 healthy controls using a PCR-restriction fragment length polymorphism assay. An increased frequency of the C allele and CT genotype for rs9494885 were found in VKH patients in the Guangzhou and Chongqing cohorts (pc = 0.015, OR = 1.6, pc = 0.036, OR = 1.7; pc = 2.36×10−4, OR = 1.5, pc = 0.012, OR = 1.5, respectively). Meanwhile, a decreased frequency of the TT genotype for rs9494885 was observed in VKH patients in the Guangzhou and Chongqing cohorts (pc = 0.026, OR = 0.6, pc = 0.0074, OR = 0.7, respectively). The combined analysis showed that a significantly increased prevalence of the rs9494885 TC genotype and C allele were found in VKH disease patients compared with controls (pc = 2.26×10−5, OR = 1.7; pc = 1.09× 10−5, OR = 1.6, respectively). The frequency of the TT genotype of rs9494885 was markedly lower in VKH disease patients as compared with that in controls (pc = 1.12×10−5, OR = 0.6; p(c) = 1.09×10(−5), OR = 0.6, respectively). No association was found between rs10499194, rs610604, rs7753873 and rs5029928 polymorphisms and VKH disease. To our knowledge this is the first report describing the association of a TNFAIP3 gene polymorphism with VKH disease in a Chinese Han population. CONCLUSIONS/SIGNIFICANCE: The results suggest that the rs9494885 TC genotype and C allele may be predisposing factors to VKH disease, whereas the rs9494885 TT genotype and T allele may provide protection against this disease. |
format | Online Article Text |
id | pubmed-3605404 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-36054042013-04-03 TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome Li, Hong Liu, Qing Hou, Shengping Du, Liping Zhou, Qingyun Zhou, Yan Kijlstra, Aize Yang, Peizeng PLoS One Research Article BACKGROUND: This study was performed to evaluate the potential association of TNFAIP3 polymorphisms with Vogt–Koyanagi–Harada (VKH) disease in a Chinese Han population. METHODOLOGY/PRINCIPAL FINDINGS: Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were genotyped in 834 VKH disease patients and 1415 healthy controls using a PCR-restriction fragment length polymorphism assay. An increased frequency of the C allele and CT genotype for rs9494885 were found in VKH patients in the Guangzhou and Chongqing cohorts (pc = 0.015, OR = 1.6, pc = 0.036, OR = 1.7; pc = 2.36×10−4, OR = 1.5, pc = 0.012, OR = 1.5, respectively). Meanwhile, a decreased frequency of the TT genotype for rs9494885 was observed in VKH patients in the Guangzhou and Chongqing cohorts (pc = 0.026, OR = 0.6, pc = 0.0074, OR = 0.7, respectively). The combined analysis showed that a significantly increased prevalence of the rs9494885 TC genotype and C allele were found in VKH disease patients compared with controls (pc = 2.26×10−5, OR = 1.7; pc = 1.09× 10−5, OR = 1.6, respectively). The frequency of the TT genotype of rs9494885 was markedly lower in VKH disease patients as compared with that in controls (pc = 1.12×10−5, OR = 0.6; p(c) = 1.09×10(−5), OR = 0.6, respectively). No association was found between rs10499194, rs610604, rs7753873 and rs5029928 polymorphisms and VKH disease. To our knowledge this is the first report describing the association of a TNFAIP3 gene polymorphism with VKH disease in a Chinese Han population. CONCLUSIONS/SIGNIFICANCE: The results suggest that the rs9494885 TC genotype and C allele may be predisposing factors to VKH disease, whereas the rs9494885 TT genotype and T allele may provide protection against this disease. Public Library of Science 2013-03-21 /pmc/articles/PMC3605404/ /pubmed/23555688 http://dx.doi.org/10.1371/journal.pone.0059515 Text en © 2013 Li et al http://creativecommons.org/licenses/by/4.0/ 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 author and source are properly credited. |
spellingShingle | Research Article Li, Hong Liu, Qing Hou, Shengping Du, Liping Zhou, Qingyun Zhou, Yan Kijlstra, Aize Yang, Peizeng TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome |
title |
TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome |
title_full |
TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome |
title_fullStr |
TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome |
title_full_unstemmed |
TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome |
title_short |
TNFAIP3 Gene Polymorphisms in a Chinese Han Population with Vogt–Koyanagi–Harada Syndrome |
title_sort | tnfaip3 gene polymorphisms in a chinese han population with vogt–koyanagi–harada syndrome |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605404/ https://www.ncbi.nlm.nih.gov/pubmed/23555688 http://dx.doi.org/10.1371/journal.pone.0059515 |
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