Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia

Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immun...

Descripción completa

Detalles Bibliográficos
Autores principales: Medeiros, Fernanda Silva, de Mendonça, Taciana Furtado, Lopes, Katiuscia Araújo de Miranda, França, Laís Medeiros da Câmara, da Silva, Andreia Soares, Vasconcelos, Luydson Richardson Silva, de Oliveira, Maria do Carmo Valgueiro Costa, dos Anjos, Ana Cláudia Mendonça, Hatzlhofer, Betânia Lucena Domingues, Bezerra, Marcos André Cavalcanti, Araújo, Aderson da Silva, Moura, Patrícia, Cavalcanti, Maria do Socorro de Mendonça
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2017
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596363/
https://www.ncbi.nlm.nih.gov/pubmed/28837214
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0161
_version_ 1783263517813506048
author Medeiros, Fernanda Silva
de Mendonça, Taciana Furtado
Lopes, Katiuscia Araújo de Miranda
França, Laís Medeiros da Câmara
da Silva, Andreia Soares
Vasconcelos, Luydson Richardson Silva
de Oliveira, Maria do Carmo Valgueiro Costa
dos Anjos, Ana Cláudia Mendonça
Hatzlhofer, Betânia Lucena Domingues
Bezerra, Marcos André Cavalcanti
Araújo, Aderson da Silva
Moura, Patrícia
Cavalcanti, Maria do Socorro de Mendonça
author_facet Medeiros, Fernanda Silva
de Mendonça, Taciana Furtado
Lopes, Katiuscia Araújo de Miranda
França, Laís Medeiros da Câmara
da Silva, Andreia Soares
Vasconcelos, Luydson Richardson Silva
de Oliveira, Maria do Carmo Valgueiro Costa
dos Anjos, Ana Cláudia Mendonça
Hatzlhofer, Betânia Lucena Domingues
Bezerra, Marcos André Cavalcanti
Araújo, Aderson da Silva
Moura, Patrícia
Cavalcanti, Maria do Socorro de Mendonça
author_sort Medeiros, Fernanda Silva
collection PubMed
description Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA.
format Online
Article
Text
id pubmed-5596363
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Sociedade Brasileira de Genética
record_format MEDLINE/PubMed
spelling pubmed-55963632017-09-20 Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia Medeiros, Fernanda Silva de Mendonça, Taciana Furtado Lopes, Katiuscia Araújo de Miranda França, Laís Medeiros da Câmara da Silva, Andreia Soares Vasconcelos, Luydson Richardson Silva de Oliveira, Maria do Carmo Valgueiro Costa dos Anjos, Ana Cláudia Mendonça Hatzlhofer, Betânia Lucena Domingues Bezerra, Marcos André Cavalcanti Araújo, Aderson da Silva Moura, Patrícia Cavalcanti, Maria do Socorro de Mendonça Genet Mol Biol Human and Medical Genetics Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA. Sociedade Brasileira de Genética 2017-08-21 2017 /pmc/articles/PMC5596363/ /pubmed/28837214 http://dx.doi.org/10.1590/1678-4685-GMB-2016-0161 Text en Copyright © 2017, Sociedade Brasileira de Genética. http://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.
spellingShingle Human and Medical Genetics
Medeiros, Fernanda Silva
de Mendonça, Taciana Furtado
Lopes, Katiuscia Araújo de Miranda
França, Laís Medeiros da Câmara
da Silva, Andreia Soares
Vasconcelos, Luydson Richardson Silva
de Oliveira, Maria do Carmo Valgueiro Costa
dos Anjos, Ana Cláudia Mendonça
Hatzlhofer, Betânia Lucena Domingues
Bezerra, Marcos André Cavalcanti
Araújo, Aderson da Silva
Moura, Patrícia
Cavalcanti, Maria do Socorro de Mendonça
Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia
title Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia
title_full Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia
title_fullStr Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia
title_full_unstemmed Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia
title_short Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia
title_sort combined genotypes of the mbl2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596363/
https://www.ncbi.nlm.nih.gov/pubmed/28837214
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0161
work_keys_str_mv AT medeirosfernandasilva combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT demendoncatacianafurtado combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT lopeskatiusciaaraujodemiranda combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT francalaismedeirosdacamara combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT dasilvaandreiasoares combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT vasconcelosluydsonrichardsonsilva combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT deoliveiramariadocarmovalgueirocosta combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT dosanjosanaclaudiamendonca combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT hatzlhoferbetanialucenadomingues combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT bezerramarcosandrecavalcanti combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT araujoadersondasilva combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT mourapatricia combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia
AT cavalcantimariadosocorrodemendonca combinedgenotypesofthembl2generelatedtolowmannosebindinglectinlevelsareassociatedwithvasoocclusiveeventsinchildrenwithsicklecellanemia

Ejemplares similares