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CREM variant rs17583959 conferred susceptibility to T1D risk in the Tunisian families

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dc.contributor.authorZouidi, Ferjani
dc.contributor.authorBouzid, D.
dc.contributor.authorFourati, H.
dc.contributor.authorFakhfakh, R.
dc.contributor.authorKammoun, T.
dc.contributor.authorHachicha, M.
dc.contributor.authorPenha-Gonçalves, C.
dc.contributor.authorMasmoudi, H.
dc.date.accessioned2018-05-23T16:02:51Z
dc.date.available2018-05-23T16:02:51Z
dc.date.issued2017-01
dc.descriptionThis deposit is composed by a publication in which the IGC's authors have had the role of collaboration (it's a collaboration publication). This type of deposit in ARCA is in restrictedAccess (it can't be in open access to the public), and can only be accessed by two ways: either by requesting a legal copy from the author (the email contact present in this deposit) or by visiting the following link: https://www.sciencedirect.com/science/article/pii/S0165247816302711?via%3Dihub#sec0035pt_PT
dc.descriptionThis publication hasn't any creative commons license associated.pt_PT
dc.descriptionThere is no public supplementary material available.pt_PT
dc.description.abstractType 1 diabetes mellitus (T1D) is a chronic autoimmune disease caused by the destruction of insulin-producing pancreatic β-cells by autoreactive T cells. Studies in animal models, such as the non-obese diabetic (NOD) mouse reveal that this disease is under the control of several genes that encode molecules implicated in regulation of transcription factors and in T cell activation. In order to underline the role of the genes involved in this regulation pathways, we investigated, using the Sequenom MassARRAY platform, 13 single-nucleotide polymorphisms (SNPs) belonging to CREM, IRF5, STAT4, and STAT5a/b genes in 59 T1D Tunisian families. In the current study, we identified an association with rs17583959 (allele G; Z score=2.27; p=0.02; Genotype GG: score=1.96; p=0.04) of CREM gene. In LD analysis a strong LD between the 3 CREM variants (Block 1) was detected; rs2384352 was in complete LD with rs1148247. When haplotypes were constructed between CREM polymorphisms (rs1148247, rs17583959, rs2384352), AGA haplotype (H2) was significantly over-transmitted from parents to affected offspring (Z score=2.988; P=0.002) and may confer a risk for T1D disease. Whereas, AAG haplotype (H5) (Z score=-2.000; p=0.045) was less transmitted than expected to affected children suggesting its protective effect against T1D pathology. No significant association in IRF5, STAT4, and STAT5a/b genes were observed. In conclusion, this study shows an eventually involvement of CREM gene in the development of T1D pathology in Tunisian families. These facts are consistent with a major role for transcription factor genes involved in the immune pathways in the control of autoimmunity. Further researches of association and functional analysis across populations are needed to confirm these findings.pt_PT
dc.description.sponsorshipThere are no funders and sponsors indicated explicitly in the document.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFerjani Zouidi, D. Bouzid, H. Fourati, R. Fakhfakh, T. Kammoun, M. Hachicha, C. Penha-Gonçalves, H. Masmoudi, CREM variant rs17583959 conferred susceptibility to T1D risk in the Tunisian families, Immunology Letters, Volume 181, 2017, Pages 1-5, ISSN 0165-2478, https://doi.org/10.1016/j.imlet.2016.11.007. (http://www.sciencedirect.com/science/article/pii/S0165247816302711)pt_PT
dc.identifier.doi10.1016/j.imlet.2016.11.007pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.7/880
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationThere are no funders and sponsors indicated explicitly in the document.pt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S0165247816302711?via%3Dihub#!pt_PT
dc.subjectType 1 diabetespt_PT
dc.subjectCREMpt_PT
dc.subjectIRF5pt_PT
dc.subjectSTAT5pt_PT
dc.subjectHaplotypept_PT
dc.subjectTunisiapt_PT
dc.titleCREM variant rs17583959 conferred susceptibility to T1D risk in the Tunisian familiespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage5pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleImmunology Letterspt_PT
oaire.citation.volume181pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT

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