Lack of Association of the Ala 45Thr Polymorphism and Other Common Variants of the NeuroD Gene with Type 1 Diabetes

Adrian Vella, Joanna M M Howson, Bryan J. Barratt, Rebecca C J Twells, Helen E. Rance, Sarah Nutland, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Dag E. Undlien, Kjersti S. Rønningen, Cristian Guja, Constantin Ionescu-Tîrgovişte, David A. Savage, John A. Todd

Research output: Contribution to journalArticle

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Abstract

Variation in genes necessary for normal functioning and development of β-cells, e.g., NEUROD1, which encodes a transcription factor for the insulin gene and is important in β-cell development, causes maturity-onset diabetes of the young. Some studies have reported an association between a nonsynonymous Ala45Thr (+182G→ A) single nucleotide polymorphism (SNP) in NEUROD1 and type 1 diabetes, but this result has not been consistently found. To clarify this, we genotyped Ala45Thr in 2,434 type 1 diabetic families of European descent and Caucasian ethnicity from five different countries. Taking the allele frequency of 36% for Thr45 and an odds ratio (OR) of 1.2, this sample provided >99% power to detect an association (P < 0.95). We could not confirm the association (P = 0.77). No evidence of population heterogeneity in the lack of association of Thr 45 with type 1 diabetes was observed. To evaluate the possibility that another NEUROD1 variant was associated with type 1 diabetes, we resequenced the gene in 32 U.K. affected individuals and identified and genotyped all common SNPs (minor allele frequency >10%; n = 5) in 786 families. We report no evidence of association of these common variants in NEUROD1 and type 1 diabetes in these samples.

Original languageEnglish (US)
Pages (from-to)1158-1161
Number of pages4
JournalDiabetes
Volume53
Issue number4
DOIs
StatePublished - Apr 2004
Externally publishedYes

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Type 1 Diabetes Mellitus
Gene Frequency
Genes
Single Nucleotide Polymorphism
Transcription Factors
Odds Ratio
Insulin
Mason-Type Diabetes

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Vella, A., Howson, J. M. M., Barratt, B. J., Twells, R. C. J., Rance, H. E., Nutland, S., ... Todd, J. A. (2004). Lack of Association of the Ala 45Thr Polymorphism and Other Common Variants of the NeuroD Gene with Type 1 Diabetes. Diabetes, 53(4), 1158-1161. https://doi.org/10.2337/diabetes.53.4.1158

Lack of Association of the Ala 45Thr Polymorphism and Other Common Variants of the NeuroD Gene with Type 1 Diabetes. / Vella, Adrian; Howson, Joanna M M; Barratt, Bryan J.; Twells, Rebecca C J; Rance, Helen E.; Nutland, Sarah; Tuomilehto-Wolf, Eva; Tuomilehto, Jaakko; Undlien, Dag E.; Rønningen, Kjersti S.; Guja, Cristian; Ionescu-Tîrgovişte, Constantin; Savage, David A.; Todd, John A.

In: Diabetes, Vol. 53, No. 4, 04.2004, p. 1158-1161.

Research output: Contribution to journalArticle

Vella, A, Howson, JMM, Barratt, BJ, Twells, RCJ, Rance, HE, Nutland, S, Tuomilehto-Wolf, E, Tuomilehto, J, Undlien, DE, Rønningen, KS, Guja, C, Ionescu-Tîrgovişte, C, Savage, DA & Todd, JA 2004, 'Lack of Association of the Ala 45Thr Polymorphism and Other Common Variants of the NeuroD Gene with Type 1 Diabetes', Diabetes, vol. 53, no. 4, pp. 1158-1161. https://doi.org/10.2337/diabetes.53.4.1158
Vella, Adrian ; Howson, Joanna M M ; Barratt, Bryan J. ; Twells, Rebecca C J ; Rance, Helen E. ; Nutland, Sarah ; Tuomilehto-Wolf, Eva ; Tuomilehto, Jaakko ; Undlien, Dag E. ; Rønningen, Kjersti S. ; Guja, Cristian ; Ionescu-Tîrgovişte, Constantin ; Savage, David A. ; Todd, John A. / Lack of Association of the Ala 45Thr Polymorphism and Other Common Variants of the NeuroD Gene with Type 1 Diabetes. In: Diabetes. 2004 ; Vol. 53, No. 4. pp. 1158-1161.
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