http://purl.uniprot.org/citations/15037989 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15037989 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundTo develop a sensitive, specific screening strategy for predicting genetic risk for type 1 diabetes mellitus (T1DM) in the low-incidence continental Italian population, and to define with this tool, a cohort of high-to-moderate risk infants for an immunological follow-up study aimed at identifying environmental risk factors for T1DM.Methods4855 newborns in three regions of continental Italy were screened for T1DM HLA-DRB1-DQB1 risk genotypes using a reverse line blot typing method. Risk classification was based on odds ratios (OR) found in a preliminary case-control study (356 T1DM patients, 412 controls). Screening efficiency was optimized by allele subtyping.ResultsScreening for well-known T1DM susceptibility genotypes [DRB1*03/*04-DQB1*0302; DRB1*03/*03; DRB1*04/*04-DQB1*0302; DRB1*04-DQB1*0302/X where X is not equal to DRB1*03, DRB1*04-DQB1*0302, DQB1*0602 or DQB1*0603] was associated with <60% sensitivity due to their low frequencies in the general Italian population. Inclusion of an additional genotype from which protective DRB1 and DQB1 alleles had been excluded [DRB1*03/X degrees where DQB1 is not equal to *0301, *0503, *0602, or *0603 and X degrees not equal DRB1*03, DRB1*04-DQB1*0302 or DRB1*07] increased screening sensitivity to 75% (specificity: 85%). Among 4855 newborns, we have found the high-risk genotype [DRB1*03/*04-DQB1*0302; estimated absolute risk (AR) 1/23] to be present in only 0.9%. The moderate-risk genotypes were found in 13.8% of newborns (estimated AR 1/177).ConclusionsRisk classification must be tailored to the characteristics of the individual population, in particular, the allelic frequencies in the background population and T1DM prevalence. We have developed a screening strategy with good levels of sensitivity that should prove effective for use throughout the Italian peninsula."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.org/dc/terms/identifier | "doi:10.1002/dmrr.426"xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Locatelli M."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Bugawan T.L."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Erlich H.A."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Buzzetti R."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Meschi F."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Multari G."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Bottazzo G."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Lorini R."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Pozzilli P."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Di Mario U."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Petrone A."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Galgani A."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/author | "Del Buono M.L."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/name | "Diabetes Metab Res Rev"xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/pages | "137-143"xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/title | "Genetic prediction of type 1 diabetes in a population with low frequency of HLA risk genotypes and low incidence of the disease (the DIABFIN study)."xsd:string |
http://purl.uniprot.org/citations/15037989 | http://purl.uniprot.org/core/volume | "20"xsd:string |
http://purl.uniprot.org/citations/15037989 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15037989 |
http://purl.uniprot.org/citations/15037989 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15037989 |
http://purl.uniprot.org/uniprot/#_A0A0A7C3H3-mappedCitation-15037989 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/15037989 |
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