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Population Genetics of IFITM3 in Portugal and Central Africa Reveals a Potential Modifier of Influenza Severity

2018-03Journal article Open access
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dc.contributor.authorDavid, S
dc.contributor.authorCorreia, V
dc.contributor.authorAntunes, L
dc.contributor.authorFaria, R
dc.contributor.authorFerrão, J
dc.contributor.authorFaustino, P
dc.contributor.authorNunes, B
dc.contributor.authorMaltez, F
dc.contributor.authorLavinha, J
dc.contributor.authorRebelo de Andrade, H
dc.date.accessioned2018-12-19T11:56:04Z
dc.date.available2018-12-19T11:56:04Z
dc.date.issued2018-03
dc.description.abstractInfluenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in the Portuguese general population (n = 200) and Central Africans (largely Angolan) (n = 148) as well as its association to influenza severity in Portuguese patients (n = 41). Seven SNPs, within the 352 bp IFITM3 amplicon around rs12252, were identified. SNP distributions in the Portuguese appeared at an intermediate level between the Africans and other Europeans. According to HapMap, rs34481144 belongs to the same linkage disequilibrium (LD) block as rs12252 and is in strong LD with rs6421983. A negative association with severe relative to mild disease was observed for allele rs34481144-A, indicating a protective effect under the dominant model. Moreover, haplotype Hap4 with rs34481144-A, not including rs12252-C, was significantly associated to mild influenza. Conversely, although with borderline significance, haplotype Hap1 with rs34481144-G, not including rs12252-C, was associated to severe disease. Moreover, in comparison to the general Portuguese population, statistical significant differences in the frequencies of the protective allele rs34481144-A in the severe disease group, the deleterious Hap1 in the mild disease group, and the protective Hap4 in the severe disease group were observed. The population attributable risk (PAR) for the targeted rs34481144 allele or genotype was of 55.91 and 64.44% in the general population and the mildly infected individuals, respectively. Implication of these variants in disease phenotype needs further validation, namely through functional analysis as is discussed.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationImmunogenetics. 2018 Mar;70(3):169-177.pt_PT
dc.identifier.doi10.1007/s00251-017-1026-2pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3137
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.subjectAdultpt_PT
dc.subjectAfrica, Centralpt_PT
dc.subjectAllelespt_PT
dc.subjectFemalept_PT
dc.subjectGenetic Association Studiespt_PT
dc.subjectGenetic Predisposition to Diseasept_PT
dc.subjectGenotypept_PT
dc.subjectHumanspt_PT
dc.subjectInfluenza A Virus, H1N1 Subtypept_PT
dc.subjectInfluenza, Humanpt_PT
dc.subjectMalept_PT
dc.subjectMembrane Proteinspt_PT
dc.subjectMiddle Agedpt_PT
dc.subjectPolymorphism, Single Nucleotidept_PT
dc.subjectPortugalpt_PT
dc.subjectRNA-Binding Proteinspt_PT
dc.subjectRisk Factorspt_PT
dc.subjectSeverity of Illness Indexpt_PT
dc.subjectGenetics, Populationpt_PT
dc.subjectHCC INFpt_PT
dc.titlePopulation Genetics of IFITM3 in Portugal and Central Africa Reveals a Potential Modifier of Influenza Severitypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage177pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage169pt_PT
oaire.citation.titleImmunogeneticspt_PT
oaire.citation.volume70pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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