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Title: The Ala45Thr polymorphism of NEUROD1 is associated with type 1 diabetes in Brazilian women
Authors: Oliveira, CSV
Hauache, O. M.
Vieira, JGH
Maciel, RMB
Sjoroos, M.
Canani, L. H.
Velho, G.
Gross, J. L.
Reis, A. F.
Universidade Federal de São Paulo (UNIFESP)
Fleury Inst
Wallac Oy
Hosp Clin Porto Alegre
Univ Fed Rio Grande Sul
Keywords: Type 1 diabetes mellitus
association study
Issue Date: 1-Dec-2005
Publisher: Masson Editeur
Citation: Diabetes & Metabolism. Moulineaux Cedex 9: Masson Editeur, v. 31, n. 6, p. 599-602, 2005.
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.
ISSN: 1262-3636
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