Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus.
Identifieur interne : 000513 ( Main/Exploration ); précédent : 000512; suivant : 000514Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus.
Auteurs : S C Lobo-Alves [Brésil] ; D G Augusto [Brésil] ; W C S. Magalhães [Brésil] ; E. Tarazona-Santos [Brésil] ; M F Lima-Costa [Brésil] ; M L Barreto [Brésil] ; B L Horta [Brésil] ; R C De Almeida [Pays-Bas] ; M L Petzl-Erler [Brésil]Source :
- The British journal of dermatology [ 1365-2133 ] ; 2019.
Descripteurs français
- KwdFr :
- ARN long non codant (génétique), Biologie informatique (MeSH), Brésil (MeSH), Humains (MeSH), Maladies endémiques (MeSH), Pemphigus (génétique), Pemphigus (épidémiologie), Polymorphisme de nucléotide simple (MeSH), Prédisposition génétique à une maladie (MeSH), Simulation numérique (MeSH), Étude d'association pangénomique (MeSH), Études cas-témoins (MeSH).
- MESH :
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- Brazil (MeSH), Case-Control Studies (MeSH), Computational Biology (MeSH), Computer Simulation (MeSH), Endemic Diseases (MeSH), Genetic Predisposition to Disease (MeSH), Genome-Wide Association Study (MeSH), Humans (MeSH), Pemphigus (epidemiology), Pemphigus (genetics), Polymorphism, Single Nucleotide (MeSH), RNA, Long Noncoding (genetics).
- MESH :
- chemical , genetics : RNA, Long Noncoding.
- geographic : Brazil.
- epidemiology : Pemphigus.
- genetics : Pemphigus.
- Case-Control Studies, Computational Biology, Computer Simulation, Endemic Diseases, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide.
Abstract
BACKGROUND
Pemphigus foliaceus (PF) is an epidermal autoimmune disease, characterized by the presence of autoantibodies against the desmosomal protein desmoglein 1. Genetic and environmental factors contribute to PF, a complex disease that is endemic in Brazil and Colombia and neighbouring countries, and in Tunisia. Long noncoding RNAs (lncRNAs) may participate in gene regulation by interacting with DNA, proteins and other RNAs. Dysregulation of lncRNAs has recently been recognized as an important coplayer in the onset or progression of complex diseases. In addition, single-nucleotide polymorphisms (SNPs) located in lncRNA genes have been associated with differential risk to cancer, autoimmunity and infection.
OBJECTIVES
Here, we aimed to investigate whether SNPs in lncRNA genes are associated with differential susceptibility to endemic PF.
MATERIALS AND METHODS
We integrated data from the lncRNA SNP database with genome-wide genotype data obtained for 229 patients and 6681 controls. We tested the association between endemic PF and 2080 SNPs located in lncRNAs applying logistic regression.
RESULTS
The most significantly associated SNP was rs7144332 (OR = 1·63, P = 2·8 × 10
CONCLUSIONS
We showed, for the first time, that variation in lncRNA genes may influence pemphigus pathogenesis. Our findings highlight the importance of lncRNA variation in autoimmune and possibly other complex diseases and suggest polymorphisms for functional validation.
DOI: 10.1111/bjd.17640
PubMed: 30653253
Affiliations:
- Brésil, Pays-Bas
- Bahia, Hollande-Méridionale, Minas Gerais, Rio Grande do Sul
- Belo Horizonte, Leyde, Pelotas
- Université fédérale de Pelotas, Université fédérale du Minas Gerais
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000295
- to stream PubMed, to step Curation: 000294
- to stream PubMed, to step Checkpoint: 000243
- to stream Main, to step Merge: 000513
- to stream Main, to step Curation: 000513
Le document en format XML
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Curitiba</wicri:regionArea><wicri:noRegion>Curitiba</wicri:noRegion></affiliation></author><author><name sortKey="Augusto, D G" sort="Augusto, D G" uniqKey="Augusto D" first="D G" last="Augusto">D G Augusto</name><affiliation wicri:level="1"><nlm:affiliation>Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná, Curitiba</wicri:regionArea><wicri:noRegion>Curitiba</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz, Ilhéus, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz, Ilhéus</wicri:regionArea><wicri:noRegion>Ilhéus</wicri:noRegion></affiliation></author><author><name sortKey="Magalhaes, W C S" sort="Magalhaes, W C S" uniqKey="Magalhaes W" first="W C S" last="Magalhães">W C S. Magalhães</name><affiliation wicri:level="2"><nlm:affiliation>Núcleo de Ensino e Pesquisa - NEP, Instituto Mário Penna, Belo Horizonte, Minas Gerais, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Núcleo de Ensino e Pesquisa - NEP, Instituto Mário Penna, Belo Horizonte, Minas Gerais</wicri:regionArea><placeName><region type="state">Minas Gerais</region></placeName></affiliation><affiliation wicri:level="4"><nlm:affiliation>Instituto de Ciências Biológicas, Departamento de Biologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto de Ciências Biológicas, Departamento de Biologia, Universidade Federal de Minas Gerais, Belo Horizonte</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Tarazona Santos, E" sort="Tarazona Santos, E" uniqKey="Tarazona Santos E" first="E" last="Tarazona-Santos">E. Tarazona-Santos</name><affiliation wicri:level="4"><nlm:affiliation>Instituto de Ciências Biológicas, Departamento de Biologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto de Ciências Biológicas, Departamento de Biologia, Universidade Federal de Minas Gerais, Belo Horizonte</wicri:regionArea><placeName><settlement type="city">Belo Horizonte</settlement><region type="state">Minas Gerais</region></placeName><orgName type="university">Université fédérale du Minas Gerais</orgName></affiliation></author><author><name sortKey="Lima Costa, M F" sort="Lima Costa, M F" uniqKey="Lima Costa M" first="M F" last="Lima-Costa">M F Lima-Costa</name><affiliation wicri:level="2"><nlm:affiliation>Instituto de Pesquisa Rene Rachou, Fundação Oswaldo Cruz, Belo Horizonte, MG, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto de Pesquisa Rene Rachou, Fundação Oswaldo Cruz, Belo Horizonte, MG</wicri:regionArea><placeName><region type="state">Minas Gerais</region></placeName></affiliation></author><author><name sortKey="Barreto, M L" sort="Barreto, M L" uniqKey="Barreto M" first="M L" last="Barreto">M L Barreto</name><affiliation wicri:level="2"><nlm:affiliation>Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, BA, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Instituto de Saúde Coletiva, Universidade Federal da Bahia, Salvador, BA</wicri:regionArea><placeName><region type="state">Bahia</region></placeName></affiliation></author><author><name sortKey="Horta, B L" sort="Horta, B L" uniqKey="Horta B" first="B L" last="Horta">B L Horta</name><affiliation wicri:level="4"><nlm:affiliation>Programa de Pós-Graduação em Epidemiologia, Universidade Federal de Pelotas, Pelotas, RS, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Programa de Pós-Graduação em Epidemiologia, 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sort="Petzl Erler, M L" uniqKey="Petzl Erler M" first="M L" last="Petzl-Erler">M L Petzl-Erler</name><affiliation wicri:level="1"><nlm:affiliation>Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná, Curitiba</wicri:regionArea><wicri:noRegion>Curitiba</wicri:noRegion></affiliation></author></analytic><series><title level="j">The British journal of dermatology</title><idno type="eISSN">1365-2133</idno><imprint><date when="2019" type="published">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brazil (MeSH)</term><term>Case-Control Studies (MeSH)</term><term>Computational Biology (MeSH)</term><term>Computer Simulation (MeSH)</term><term>Endemic Diseases (MeSH)</term><term>Genetic Predisposition to Disease (MeSH)</term><term>Genome-Wide Association Study (MeSH)</term><term>Humans (MeSH)</term><term>Pemphigus (epidemiology)</term><term>Pemphigus (genetics)</term><term>Polymorphism, Single Nucleotide (MeSH)</term><term>RNA, Long Noncoding (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ARN long non codant (génétique)</term><term>Biologie informatique (MeSH)</term><term>Brésil (MeSH)</term><term>Humains (MeSH)</term><term>Maladies endémiques (MeSH)</term><term>Pemphigus (génétique)</term><term>Pemphigus (épidémiologie)</term><term>Polymorphisme de nucléotide simple (MeSH)</term><term>Prédisposition génétique à une maladie (MeSH)</term><term>Simulation numérique (MeSH)</term><term>Étude d'association pangénomique (MeSH)</term><term>Études cas-témoins (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>RNA, Long Noncoding</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Pemphigus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Pemphigus</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ARN long non codant</term><term>Pemphigus</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Pemphigus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term><term>Computational Biology</term><term>Computer Simulation</term><term>Endemic Diseases</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Humans</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Biologie informatique</term><term>Brésil</term><term>Humains</term><term>Maladies endémiques</term><term>Polymorphisme de nucléotide simple</term><term>Prédisposition génétique à une maladie</term><term>Simulation numérique</term><term>Étude d'association pangénomique</term><term>Études cas-témoins</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><b>BACKGROUND</b></p><p>Pemphigus foliaceus (PF) is an epidermal autoimmune disease, characterized by the presence of autoantibodies against the desmosomal protein desmoglein 1. Genetic and environmental factors contribute to PF, a complex disease that is endemic in Brazil and Colombia and neighbouring countries, and in Tunisia. Long noncoding RNAs (lncRNAs) may participate in gene regulation by interacting with DNA, proteins and other RNAs. Dysregulation of lncRNAs has recently been recognized as an important coplayer in the onset or progression of complex diseases. In addition, single-nucleotide polymorphisms (SNPs) located in lncRNA genes have been associated with differential risk to cancer, autoimmunity and infection.</p></div><div type="abstract" xml:lang="en"><p><b>OBJECTIVES</b></p><p>Here, we aimed to investigate whether SNPs in lncRNA genes are associated with differential susceptibility to endemic PF.</p></div><div type="abstract" xml:lang="en"><p><b>MATERIALS AND METHODS</b></p><p>We integrated data from the lncRNA SNP database with genome-wide genotype data obtained for 229 patients and 6681 controls. We tested the association between endemic PF and 2080 SNPs located in lncRNAs applying logistic regression.</p></div><div type="abstract" xml:lang="en"><p><b>RESULTS</b></p><p>The most significantly associated SNP was rs7144332 (OR = 1·63, P = 2·8 × 10</p></div><div type="abstract" xml:lang="en"><p><b>CONCLUSIONS</b></p><p>We showed, for the first time, that variation in lncRNA genes may influence pemphigus pathogenesis. Our findings highlight the importance of lncRNA variation in autoimmune and possibly other complex diseases and suggest polymorphisms for functional validation.</p></div></front></TEI><affiliations><list><country><li>Brésil</li><li>Pays-Bas</li></country><region><li>Bahia</li><li>Hollande-Méridionale</li><li>Minas Gerais</li><li>Rio Grande do Sul</li></region><settlement><li>Belo Horizonte</li><li>Leyde</li><li>Pelotas</li></settlement><orgName><li>Université fédérale de Pelotas</li><li>Université fédérale du Minas Gerais</li></orgName></list><tree><country name="Brésil"><noRegion><name sortKey="Lobo Alves, S C" sort="Lobo Alves, S C" uniqKey="Lobo Alves S" first="S C" last="Lobo-Alves">S C Lobo-Alves</name></noRegion><name sortKey="Augusto, D G" sort="Augusto, D G" uniqKey="Augusto D" first="D G" last="Augusto">D G Augusto</name><name sortKey="Augusto, D G" sort="Augusto, D G" uniqKey="Augusto D" first="D G" last="Augusto">D G Augusto</name><name sortKey="Barreto, M L" sort="Barreto, M L" uniqKey="Barreto M" first="M L" last="Barreto">M L Barreto</name><name sortKey="Horta, B L" sort="Horta, B L" uniqKey="Horta B" first="B L" last="Horta">B L Horta</name><name sortKey="Lima Costa, M F" sort="Lima Costa, M F" uniqKey="Lima Costa M" first="M F" last="Lima-Costa">M F Lima-Costa</name><name sortKey="Magalhaes, W C S" sort="Magalhaes, W C S" uniqKey="Magalhaes W" first="W C S" last="Magalhães">W C S. Magalhães</name><name sortKey="Magalhaes, W C S" sort="Magalhaes, W C S" uniqKey="Magalhaes W" first="W C S" last="Magalhães">W C S. Magalhães</name><name sortKey="Petzl Erler, M L" sort="Petzl Erler, M L" uniqKey="Petzl Erler M" first="M L" last="Petzl-Erler">M L Petzl-Erler</name><name sortKey="Tarazona Santos, E" sort="Tarazona Santos, E" uniqKey="Tarazona Santos E" first="E" last="Tarazona-Santos">E. Tarazona-Santos</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="De Almeida, R C" sort="De Almeida, R C" uniqKey="De Almeida R" first="R C" last="De Almeida">R C De Almeida</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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