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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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@article{01210bc39a114d81a52cbcda74f8a17c,
title = "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",
abstract = "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.",
author = "Lars Hansen and Jensen, {Jan N.} and Sandra Urioste and Petersen, {Helle V.} and Flemming Pociot and Hans Eiberg and Kristiansen, {Ole P.} and Torben Hansen and Palle Serup and J{\o}rn Nerup and Oluf Pedersen",
year = "2000",
month = "1",
day = "1",
doi = "10.2337/diabetes.49.5.876",
language = "English",
volume = "49",
pages = "876--878",
journal = "Diabetes",
issn = "0012-1797",
publisher = "American Diabetes Association",
number = "5",

}

RIS

TY - JOUR

T1 - NeuroD/BETA2 gene variability and diabetes

T2 - No associations to late- onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes

AU - Hansen, Lars

AU - Jensen, Jan N.

AU - Urioste, Sandra

AU - Petersen, Helle V.

AU - Pociot, Flemming

AU - Eiberg, Hans

AU - Kristiansen, Ole P.

AU - Hansen, Torben

AU - Serup, Palle

AU - Nerup, Jørn

AU - Pedersen, Oluf

PY - 2000/1/1

Y1 - 2000/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0034033618&partnerID=8YFLogxK

U2 - 10.2337/diabetes.49.5.876

DO - 10.2337/diabetes.49.5.876

M3 - Journal article

VL - 49

SP - 876

EP - 878

JO - Diabetes

JF - Diabetes

SN - 0012-1797

IS - 5

ER -

ID: 56664817