title: The Ala45Thr polymorphism of NEUROD1 is associated with type 1 diabetes in Brazilian women.
abstract: BACKGROUND
  NEUROD1 encodes a transcription factor expressed in the endocrine pancreas, and involved in beta-cell development, function and mechanisms of apoptosis. In this study, we investigated the association of a frequent polymorphism in exon 2 of NEUROD1 (G > A; Ala45Thr) with Type 1 diabetes in Brazilian subjects.
  
  
  METHODS
  A population/association study comprising 246 unrelated Type 1 diabetic and 275 nondiabetic white Brazilian subjects. The Ala45Thr variant was genotyped by a PCR-RFLP method.
  
  
  RESULTS
  The frequency of the Thr allele was significantly higher in patients with Type 1 diabetes than in controls (42.3% vs 35.3%, P=0.02). Stratification by gender showed that homozygosity for the Thr allele was associated with Type 1 diabetes in women with odds ratio of 3.66 (95% C.I. 1.43-10.11, P=0.009) as compared to homozygosity for the Ala allele. This effect was not observed in men.
  
  
  CONCLUSIONS
  We found a gender-specific association of the Ala45Thr variant of NEUROD1 with Type 1 diabetes in Brazilian women. Our results suggest that gender as well as ethnicity might modulate the association of NEUROD1 with Type 1 diabetes.
authors.affiliation: Laboratory of Molecular Endocrinology, Federal University of São Paulo, 01333-011 São Paulo-SP, Brazil.
authors.forename: C S V
authors.initials: CS
authors.lastname: Oliveira
authors.forename: O M
authors.initials: OM
authors.lastname: Hauache
authors.forename: J G H
authors.initials: JG
authors.lastname: Vieira
authors.forename: R M B
authors.initials: RM
authors.lastname: Maciel
authors.forename: M
authors.initials: M
authors.lastname: Sjöroos
authors.forename: L H
authors.initials: LH
authors.lastname: Canani
authors.forename: G
authors.initials: G
authors.lastname: Velho
authors.forename: J L
authors.initials: JL
authors.lastname: Gross
authors.forename: A F
authors.initials: AF
authors.lastname: Reis
mesh_terms: D000409:Alanine; D019943:Amino Acid Substitution; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D001938:Brazil; D016001:Confidence Intervals; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D018257:Helix-Loop-Helix Motifs; D006801:Humans; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values; D012727:Sex Characteristics; D013912:Threonine
chemical_list: D000409:Alanine; D051792:Basic Helix-Loop-Helix Proteins; D013912:Threonine; C093970:NEUROD1 protein, human