Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

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dc.contributor.authorPitzalis, Maristella
dc.contributor.authorZavattari, Patrizia
dc.contributor.authorMurru, Raffaele
dc.contributor.authorDeidda, Elisabetta
dc.contributor.authorZoledziewska, Magdalena
dc.contributor.authorMurru, Daniela
dc.contributor.authorMoi, Loredana
dc.contributor.authorMotzo, Costantino
dc.contributor.authorOrrù, Valeria
dc.contributor.authorCosta, Gianna
dc.contributor.authorSolla, Elisabetta
dc.contributor.authorFadda, Elisabetta
dc.contributor.authorSchirru, Lucia
dc.contributor.authorMelis, Maria C.
dc.contributor.authorLai, Marina
dc.contributor.authorMancosu, Cristina
dc.contributor.authorTranquilli, Stefania
dc.contributor.authorCuccu, Stefania
dc.contributor.authorRolesu, Marcella
dc.contributor.authorSecci, Maria A.
dc.contributor.authorCorongiu, Daniela
dc.contributor.authorContu, Daniela
dc.contributor.authorLampis, Rosanna
dc.contributor.authorNucaro, Annalisa
dc.contributor.authorPala, Gavino
dc.contributor.authorPacifico, Adolfo
dc.contributor.authorMaioli, Mario
dc.contributor.authorFrongia, Paola
dc.contributor.authorChessa, Margherita
dc.contributor.authorRicciardi, Rossella
dc.contributor.authorLostia, Stanislao
dc.contributor.authorMarinaro, Anna M.
dc.contributor.authorMilia, Anna F.
dc.contributor.authorLandis, Novella
dc.contributor.authorZedda, Maria A.
dc.contributor.authorWhalen, Michael B.
dc.contributor.authorSantoni, Federico
dc.contributor.authorMarrosu, Maria G.
dc.contributor.authorDevoto, Marcella
dc.contributor.authorCucca, Francesco
dc.date.accessioned2014-01-15T09:38:59Z
dc.date.available2014-01-15T09:38:59Z
dc.date.issued2008-01-20
dc.description.abstractThe Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis. To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic. In T1D, aside from the HLA locus, we found four regions showing a lod-score ≥1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score ≥1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5). This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.IT
dc.description.statusPubblicatoIT
dc.identifier.doi10.1186/1471-2350-9-3IT
dc.identifier.issn1471-2350
dc.identifier.urihttp://hdl.handle.net/11050/611
dc.language.isoenIT
dc.publisherBioMed CentralIT
dc.relation.ispartofBMC Medical GeneticsIT
dc.relation.ispartofseries9;3
dc.rightsAttribuzione - Non commerciale - Non opere derivate 3.0 Italia*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/it/*
dc.subjectmultiple sclerosisIT
dc.subjectinflammatory disordersIT
dc.subjectmicrosatellite genotypingIT
dc.subjectType 1 Diabetes (T1D)IT
dc.subject.een-cordisEEN CORDIS::SCIENZE BIOLOGICHE ::Medicina, salute umana::MalattieIT
dc.subject.een-cordisEEN CORDIS::SCIENZE BIOLOGICHE ::Ricerca sul genoma ::Genetica delle popolazioniIT
dc.titleGenetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in SardiniaIT
dc.typeArticoloIT
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