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The Capital Region of Denmark - a part of Copenhagen University Hospital
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NeuroD/BETA2 gene variability and diabetes: No associations to late- onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes

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Mutations in the NeuroD/BETA2 gene have been shown to associate with type 2 diabetes. In the present study, we examined mutations in the NeuroD/BETA2 gene for association with either type 1 or 2 diabetes. Three variants were identified in patients with type 2 diabetes: Ala45Thr (allelic frequency 0.36, 95% CI 0.31-0.41), Pro197His (0.01), and Ser259Ser (0.01). Ala45Thr and Pro197His were not associated with type 2 diabetes, but the transmission disequilibrium test showed unequal transmission of the A45 allele to offspring with type I diabetes (χ2 = 5.90, P < 0.02, odds ratio 1.55, 95% CI 0.91-2.63). This association could not be explained by linkage disequilibrium between the Ala45 allele and IDDM7 (D2S152), which is also located on chromosome 2q32. When tested in vitro, the biological activity of Thr45 (117 ± 36% vs. Ala45) and His197 (90 ± 28% vs. Pro197) on the regulation of the human insulin gene promoter appeared normal. In conclusion, mutations in the NeuroD/BETA2 gene are not a common cause of late-onset type 2 diabetes among Danes. However, in the type 1 diabetic Danish population, the Ala45Thr variant of NeuroD/BETA2 may represent a susceptibility marker independent of IDDM7 on chromosome 2q32.

Original languageEnglish
JournalDiabetes
Volume49
Issue number5
Pages (from-to)876-878
Number of pages3
ISSN0012-1797
DOIs
Publication statusPublished - 1 Jan 2000

ID: 56664817