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Distribution of polymorphisms IL4 -590 C/T and IL4 RP2 in the human populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissau

2012Journal article Open access
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dc.contributor.authorBerenguer, Anabela G.
dc.contributor.authorCâmara, Rita A.
dc.contributor.authorBrehm, António D.
dc.contributor.authorOliveira, Susana
dc.contributor.authorFernandes, Ana T.
dc.date.accessioned2020-11-16T11:12:28Z
dc.date.available2020-11-16T11:12:28Z
dc.date.issued2012
dc.description.abstractThe IL4 gene is located on chromosome 5q23.3-31.2. Polymorphisms within this cytokine gene, like the derivative allele T of IL4-590, have been reported as being associated to elevated IgE serum levels and asthma. In the present work, the allelic and genotypic frequency of the IL4-590 and IL4 RP2 polymorphisms was carried out in 599 individuals from Madeira, Azores, Portugal mainland, Cape Verde and Guinea-Bissau and in a sample of 101 asthmatics from Madeira population. In all populations the polymorphisms were in LD and presented a significant dissimilar allelic and genotypic distribution (p<0.05) except between mainland Portugal and Madeira when compared to Azores. Significant differences regarding both loci were found between Madeira population and the group of asthmatics. Genotype 183183TT frequency is higher for African populations while 253253CC prevails in Caucasian populations. The existence of a Hardy-Weinberg Disequilibrium in Guinea-Bissau population not observed in neutral markers leads to the hypothesis of natural selection occurring in these loci probably associated to a rapid population growth an hypothesis strengthened by neutral STRs D5S818 and CSF1PO gene diversity.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBerenguer, A. G., Câmara, R. A., Brehm, A. D., Oliveira, S., & Fernandes, A. T. (2012). Distribution of polymorphisms IL4-590 C/T and IL4 RP2 in the human populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissau. International Journal of Molecular Epidemiology and Genetics, 3(2), 179-183.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/2982
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publishere-Century Publishingpt_PT
dc.relationTIPAGEM GENÉTICA DOS LOCI POLIMÓRFICOS ASSOCIADOS À ASMA E ATOPIA NA POPULAÇÃO DA MADEIRA RAM COM VISTA À IDENTIFICAÇÃO DE POTENCIAIS MARCADORES DE SUSCEPTIBILIDADE, SEVERIDADE E APLICAÇÃO CLÍNICA
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectIL4-590pt_PT
dc.subjectIL4 RP2pt_PT
dc.subjectD5S818pt_PT
dc.subjectCSF1POpt_PT
dc.subjectAsthmapt_PT
dc.subjectMadeira (Portugal)pt_PT
dc.subjectAzores (Portugal)pt_PT
dc.subjectPortugal mainlandpt_PT
dc.subjectCape Verdept_PT
dc.subjectGuinea-Bissaupt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titleDistribution of polymorphisms IL4 -590 C/T and IL4 RP2 in the human populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissaupt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleTIPAGEM GENÉTICA DOS LOCI POLIMÓRFICOS ASSOCIADOS À ASMA E ATOPIA NA POPULAÇÃO DA MADEIRA RAM COM VISTA À IDENTIFICAÇÃO DE POTENCIAIS MARCADORES DE SUSCEPTIBILIDADE, SEVERIDADE E APLICAÇÃO CLÍNICA
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/PIDDAC/SFRH%2FBD%2F31273%2F2006/PT
oaire.citation.endPage183pt_PT
oaire.citation.startPage179pt_PT
oaire.citation.titleInternational Journal of Molecular Epidemiology and Geneticspt_PT
oaire.citation.volume3(2)pt_PT
oaire.fundingStreamPIDDAC
person.familyNameBrehm
person.givenNameAntonio
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.orcid0000-0003-3168-5340
person.identifier.scopus-author-idAuthor ID 7006085833
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication62d279e2-247a-4652-a370-3e8c2a846e31
relation.isAuthorOfPublication.latestForDiscovery62d279e2-247a-4652-a370-3e8c2a846e31
relation.isProjectOfPublication5be3102f-2c63-4ccb-b9e5-17ce033f5960
relation.isProjectOfPublication.latestForDiscovery5be3102f-2c63-4ccb-b9e5-17ce033f5960

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