title: Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.
abstract: 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.
  
  
  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.
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: Inés
authors.identifier: http://orcid.org/0000-0001-5386-8776
authors.initials: I
authors.lastname: Urrutia
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Martínez
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: Tamara
authors.initials: T
authors.lastname: López-Euba
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Velayos
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: Idoia
authors.initials: I
authors.lastname: Martínez de LaPiscina
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: José Ramón
authors.initials: JR
authors.lastname: Bilbao
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: Itxaso
authors.initials: I
authors.lastname: Rica
authors.affiliation: BioCruces Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Barakaldo, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Castaño
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D012307:Risk Factors; D013030:Spain
chemical_list: D059811:HLA-DRB1 Chains