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.

journal_name

Diabetes Metab

journal_title

Diabetes & metabolism

authors

Oliveira CS,Hauache OM,Vieira JG,Maciel RM,Sjöroos M,Canani LH,Velho G,Gross JL,Reis AF

doi

10.1016/s1262-3636(07)70237-9

subject

Has Abstract

pub_date

2005-12-01 00:00:00

pages

599-602

issue

6

eissn

1262-3636

issn

1878-1780

pii

s1262-3636(07)70237-9

journal_volume

31

pub_type

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