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

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dc.contributor.author Pitzalis, Maristella
dc.contributor.author Zavattari, Patrizia
dc.contributor.author Murru, Raffaele
dc.contributor.author Deidda, Elisabetta
dc.contributor.author Zoledziewska, Magdalena
dc.contributor.author Murru, Daniela
dc.contributor.author Moi, Loredana
dc.contributor.author Motzo, Costantino
dc.contributor.author Orrù, Valeria
dc.contributor.author Costa, Gianna
dc.contributor.author Solla, Elisabetta
dc.contributor.author Fadda, Elisabetta
dc.contributor.author Schirru, Lucia
dc.contributor.author Melis, Maria C.
dc.contributor.author Lai, Marina
dc.contributor.author Mancosu, Cristina
dc.contributor.author Tranquilli, Stefania
dc.contributor.author Cuccu, Stefania
dc.contributor.author Rolesu, Marcella
dc.contributor.author Secci, Maria A.
dc.contributor.author Corongiu, Daniela
dc.contributor.author Contu, Daniela
dc.contributor.author Lampis, Rosanna
dc.contributor.author Nucaro, Annalisa
dc.contributor.author Pala, Gavino
dc.contributor.author Pacifico, Adolfo
dc.contributor.author Maioli, Mario
dc.contributor.author Frongia, Paola
dc.contributor.author Chessa, Margherita
dc.contributor.author Ricciardi, Rossella
dc.contributor.author Lostia, Stanislao
dc.contributor.author Marinaro, Anna M.
dc.contributor.author Milia, Anna F.
dc.contributor.author Landis, Novella
dc.contributor.author Zedda, Maria A.
dc.contributor.author Whalen, Michael B.
dc.contributor.author Santoni, Federico
dc.contributor.author Marrosu, Maria G.
dc.contributor.author Devoto, Marcella
dc.contributor.author Cucca, Francesco
dc.date.accessioned 2014-01-15T09:38:59Z
dc.date.available 2014-01-15T09:38:59Z
dc.date.issued 2008-01-20
dc.identifier.issn 1471-2350
dc.identifier.uri http://hdl.handle.net/11050/611
dc.description.abstract The 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.language.iso en IT
dc.publisher BioMed Central IT
dc.relation.ispartof BMC Medical Genetics IT
dc.relation.ispartofseries 9;3
dc.rights Attribuzione - Non commerciale - Non opere derivate 3.0 Italia *
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/3.0/it/ *
dc.subject multiple sclerosis IT
dc.subject inflammatory disorders IT
dc.subject microsatellite genotyping IT
dc.subject Type 1 Diabetes (T1D) IT
dc.title Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia IT
dc.type Articolo IT
dc.description.status Pubblicato IT
dc.identifier.doi 10.1186/1471-2350-9-3 IT
dc.subject.een-cordis EEN CORDIS::SCIENZE BIOLOGICHE ::Medicina, salute umana::Malattie IT
dc.subject.een-cordis EEN CORDIS::SCIENZE BIOLOGICHE ::Ricerca sul genoma ::Genetica delle popolazioni IT

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Attribuzione - Non commerciale - Non opere derivate 3.0 Italia Attribuzione - Non commerciale - Non opere derivate 3.0 Italia