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http://purl.uniprot.org/citations/28052112http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28052112http://www.w3.org/2000/01/rdf-schema#comment"

Objective

The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed genetic diagnosis of MODY.

Materials and methods

160 families with a proband diagnosed with type 1 diabetes and 74 families with a molecular diagnosis of MODY (61 GCK-MODY and 13 HNF1A-MODY) were categorized at high definition for HLA-DRB1 locus. According to the presence or absence of the susceptible HLA-DRB1 alleles for type 1 diabetes, we considered three different HLA-DRB1 genotypes: 0 risk alleles (no DR3 no DR4); 1 risk allele (DR3 or DR4); 2 risk alleles (DR3 and/or DR4).

Results

Compared with type 1 diabetes, patients with MODY carried higher frequency of 0 risk alleles, OR 22.7 (95% CI: 10.7-48.6) and lower frequency of 1 or 2 risk alleles, OR 0.53 (95% CI: 0.29-0.96) and OR 0.06 (95% CI: 0.02-0.18), respectively.

Conclusions

The frequency of HLA-DRB1 risk alleles for type 1 diabetes is significantly lower in patients with MODY. In children and adolescents with diabetes, the presence of 2 risk alleles (DR3 and/or DR4) reduces the probability of MODY diagnosis, whereas the lack of risk alleles increases it. Therefore, we might consider that HLA-DRB1 provides additional information for the selection of patients with high probability of monogenic diabetes."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.org/dc/terms/identifier"doi:10.1371/journal.pone.0169389"xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Martinez R."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Castano L."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Bilbao J.R."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Rica I."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Velayos T."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Urrutia I."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Martinez de LaPiscina I."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/author"Lopez-Euba T."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/name"PLoS One"xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/pages"e0169389"xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/title"Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY."xsd:string
http://purl.uniprot.org/citations/28052112http://purl.uniprot.org/core/volume"12"xsd:string
http://purl.uniprot.org/citations/28052112http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/28052112
http://purl.uniprot.org/citations/28052112http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/28052112
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http://purl.uniprot.org/uniprot/#_A0A141AZI3-mappedCitation-28052112http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28052112
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