Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Anais brasileiros de dermatologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000100045 |
Resumo: | Abstract BACKGROUND: Recent mutation analysis identified several missense mutations in CARD14 in psoriasis. OBJECTIVES: We performed the genomic sequence analysis on CARD14 in southern Chinese Han Cantonese with Psoriasis Vulgaris (PsV) to reveal more causative missense mutations. METHODS: A total of 131 patients with PsV and 207 matched controls were included. We conducted sequence analysis of all the exon and exon-intron boundaries of CARD14 in the group of PsV patients and subsequent case control analysis of potential sequence variants of significance. RESULTS: We found five rare mutations and four of them are annotated or reported. Only the variant (c.1291C>G) has not been reported and annotated, but the variant was also found in controls. No significant difference was detected among all rare variant allele frequencies of patients and controls. CONCLUSION: None of the new definite variants were pathogenic. The other pathogenic mutations for PsV are still elusive in our cohort. |
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Anais brasileiros de dermatologia (Online) |
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|
spelling |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohortMutationPsoriasisSequence analysis, DNAAbstract BACKGROUND: Recent mutation analysis identified several missense mutations in CARD14 in psoriasis. OBJECTIVES: We performed the genomic sequence analysis on CARD14 in southern Chinese Han Cantonese with Psoriasis Vulgaris (PsV) to reveal more causative missense mutations. METHODS: A total of 131 patients with PsV and 207 matched controls were included. We conducted sequence analysis of all the exon and exon-intron boundaries of CARD14 in the group of PsV patients and subsequent case control analysis of potential sequence variants of significance. RESULTS: We found five rare mutations and four of them are annotated or reported. Only the variant (c.1291C>G) has not been reported and annotated, but the variant was also found in controls. No significant difference was detected among all rare variant allele frequencies of patients and controls. CONCLUSION: None of the new definite variants were pathogenic. The other pathogenic mutations for PsV are still elusive in our cohort.Sociedade Brasileira de Dermatologia2016-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000100045Anais Brasileiros de Dermatologia v.91 n.1 2016reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1590/abd1806-4841.20164016info:eu-repo/semantics/openAccessZhu,KunjuShi,GeLiu,HuanZhu,ChengyaoFan,Yimingeng2016-03-09T00:00:00Zoai:scielo:S0365-05962016000100045Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2016-03-09T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false |
dc.title.none.fl_str_mv |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort |
title |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort |
spellingShingle |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort Zhu,Kunju Mutation Psoriasis Sequence analysis, DNA |
title_short |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort |
title_full |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort |
title_fullStr |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort |
title_full_unstemmed |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort |
title_sort |
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort |
author |
Zhu,Kunju |
author_facet |
Zhu,Kunju Shi,Ge Liu,Huan Zhu,Chengyao Fan,Yiming |
author_role |
author |
author2 |
Shi,Ge Liu,Huan Zhu,Chengyao Fan,Yiming |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Zhu,Kunju Shi,Ge Liu,Huan Zhu,Chengyao Fan,Yiming |
dc.subject.por.fl_str_mv |
Mutation Psoriasis Sequence analysis, DNA |
topic |
Mutation Psoriasis Sequence analysis, DNA |
description |
Abstract BACKGROUND: Recent mutation analysis identified several missense mutations in CARD14 in psoriasis. OBJECTIVES: We performed the genomic sequence analysis on CARD14 in southern Chinese Han Cantonese with Psoriasis Vulgaris (PsV) to reveal more causative missense mutations. METHODS: A total of 131 patients with PsV and 207 matched controls were included. We conducted sequence analysis of all the exon and exon-intron boundaries of CARD14 in the group of PsV patients and subsequent case control analysis of potential sequence variants of significance. RESULTS: We found five rare mutations and four of them are annotated or reported. Only the variant (c.1291C>G) has not been reported and annotated, but the variant was also found in controls. No significant difference was detected among all rare variant allele frequencies of patients and controls. CONCLUSION: None of the new definite variants were pathogenic. The other pathogenic mutations for PsV are still elusive in our cohort. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-02-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000100045 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016000100045 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/abd1806-4841.20164016 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Dermatologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Dermatologia |
dc.source.none.fl_str_mv |
Anais Brasileiros de Dermatologia v.91 n.1 2016 reponame:Anais brasileiros de dermatologia (Online) instname:Sociedade Brasileira de Dermatologia (SBD) instacron:SBD |
instname_str |
Sociedade Brasileira de Dermatologia (SBD) |
instacron_str |
SBD |
institution |
SBD |
reponame_str |
Anais brasileiros de dermatologia (Online) |
collection |
Anais brasileiros de dermatologia (Online) |
repository.name.fl_str_mv |
Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD) |
repository.mail.fl_str_mv |
abd@sbd.org.br||revista@sbd.org.br |
_version_ |
1752126420976402432 |