title: NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.
abstract: Association of the NEUROD Ala45Thr polymorphism with Type 1 diabetes mellitus (DM) has been found in some but not all populations. We performed a study on the association of two NEUROD exon 2 polymorphisms, the Ala45Thr and the Pro197His, with childhood-onset Type 1 DM in the Czech population. We compared 285 children with Type 1 DM diagnosed under the age of 15 years with 289 non-diabetic control children. The genotypes were determined using novel real-time allele-specific PCR assays in the TaqMan format, and data were analysed using logistic regression. The numbers of subjects with codon 45 genotypes Ala/Ala, Ala/Thr, Thr/Thr were 95, 145, 45 among cases and 117, 130, 42 among controls. Thr45 phenotypic positivity was associated with a significant risk of Type 1 DM (OR=2.01, CI 95% 1.25-3.24) in a multivariate logistic regression model involving also the insulin gene -23HphI genotype and the presence of Type 1 DM-associated HLA-DQB1*0302-DQA1*03 (DQ8) and DQB1*0201-DQA1*05 (DQ2) molecules. No association was observed for the Pro197His mutation which was carried by 5.3% cases and 5.9% controls. Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM.
authors.affiliation: Second Department of Paediatrics, Second Faculty of Medicine, Charles University, V Uvalu 84, Prague 5 CZ-150 06, Czech Republic. Ondrej.Cinek@Lfmotol.cuni.cz
authors.forename: Ondrej
authors.initials: O
authors.lastname: Cinek
authors.forename: Pavel
authors.initials: P
authors.lastname: Drevínek
authors.forename: Zdenĕk
authors.initials: Z
authors.lastname: Sumník
authors.forename: Bĕla
authors.initials: B
authors.lastname: Bendlová
authors.forename: Pavlína
authors.initials: P
authors.lastname: Sedláková
authors.forename: Stanislava
authors.initials: S
authors.lastname: Kolousková
authors.forename: Marta
authors.initials: M
authors.lastname: Snajderová
authors.forename: Jan
authors.initials: J
authors.lastname: Vavrinec
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000409:Alanine; D001483:Base Sequence; D051792:Basic Helix-Loop-Helix Proteins; D002648:Child; D018153:Czech Republic; D017931:DNA Primers; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005787:Gene Frequency; D006683:HLA-DQ Antigens / Q000235:genetics; D018257:Helix-Loop-Helix Motifs; D006801:Humans; D007328:Insulin / Q000235:genetics; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012044:Regression Analysis; D013912:Threonine
chemical_list: D000409:Alanine; D051792:Basic Helix-Loop-Helix Proteins; D017931:DNA Primers; D006683:HLA-DQ Antigens; D007328:Insulin; D009419:Nerve Tissue Proteins; D013912:Threonine; C093564:Neurogenic differentiation factor 1