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

2011Journal article Open access
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dc.contributor.authorBerenguer, Alberto
dc.contributor.authorCâmara, Rita A
dc.contributor.authorBrehm, António D
dc.contributor.authorOliveira, Susana
dc.contributor.authorFernandes, Ana T
dc.date.accessioned2019-09-18T15:53:15Z
dc.date.available2019-09-18T15:53:15Z
dc.date.issued2011
dc.description.abstractAbstract: The 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.citationInt J Mol Epidemiol Genet 2012:3(2):179-183pt_PT
dc.identifier.issnI948-1756
dc.identifier.urihttp://hdl.handle.net/10400.26/29717
dc.language.isoengpt_PT
dc.publisherHuman Genetics Laboratory, University of Madeirapt_PT
dc.relation.publisherversionwww.ijmeg.orgpt_PT
dc.subjectIL4-590pt_PT
dc.subjectIL4 RP2,pt_PT
dc.subjectAsthma,pt_PT
dc.subjectAzorespt_PT
dc.subjectPortugalpt_PT
dc.subjectMadeira Islandpt_PT
dc.subjectmainlandpt_PT
dc.subjectCape Verdept_PT
dc.subjectGuinea-Bissaupt_PT
dc.subjectgenéticapt_PT
dc.titleDistribution of polymorphisms IL4 -590 C/T and IL4 RP2 in the human populations of Madeira, Azores, Portugal, Capept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage183pt_PT
oaire.citation.startPage179pt_PT
person.familyNameBerenguer
person.givenNameAlberto
person.identifier.orcid0000-0002-6435-273X
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationd200cc98-ef78-4f28-afcf-11d9bc339715
relation.isAuthorOfPublication.latestForDiscoveryd200cc98-ef78-4f28-afcf-11d9bc339715

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