NeuroD/BETA2, a transcription factor of the insulin gene, also plays an important role in the development of pancreatic beta-cells. Recently, the NeuroD/BETA2 gene has been mapped to the long arm of human chromosome 2 (2q32) where the IDDM7 gene has previously been mapped, implying its involvement in diabetes. To identify mutations in the NeuroD/BETA2 gene that may predispose patients to develop diabetes, we studied the gene in 50 Japanese subjects with diabetes (4 with type 1 and 46 with type 2) by the polymerase chain reaction (PCR) followed by single-strand conformation polymorphism and sequencing analyses. Further analysis was performed in 392 Japanese subjects (60 with type 1 and 158 with type 2 diabetes and 174 healthy control subjects) by mismatch PCR restriction fragment length polymorphism. We found a DNA polymorphism of the NeuroD/BETA2 gene. A nucleotide G-to-A transition results in the substitution of alanine to threonine at codon 45 (Ala45Thr). The frequencies of heterozygotes for the Ala45Thr variant were 9.8% in the control subjects, 9.5% in the patients with type 2 diabetes, and 25.0% in the patients with type 1 diabetes, a significant difference (P = 0.006). Because the variant of the NeuroD/BETA2 gene (Ala45Thr) is associated with type 1 but not type 2 diabetes, it may be implicated in the loss of pancreatic beta-cells in type 1 diabetes.
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Abstract|
February 01 1999
Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese.
I Iwata;
I Iwata
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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S Nagafuchi;
S Nagafuchi
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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H Nakashima;
H Nakashima
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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S Kondo;
S Kondo
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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T Koga;
T Koga
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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Y Yokogawa;
Y Yokogawa
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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T Akashi;
T Akashi
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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T Shibuya;
T Shibuya
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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Y Umeno;
Y Umeno
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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T Okeda;
T Okeda
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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S Shibata;
S Shibata
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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S Kono;
S Kono
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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M Yasunami;
M Yasunami
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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H Ohkubo;
H Ohkubo
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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Y Niho
Y Niho
First Department of Internal Medicine, Kyushu University, Fukuoka, Japan. [email protected]
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Citation
I Iwata, S Nagafuchi, H Nakashima, S Kondo, T Koga, Y Yokogawa, T Akashi, T Shibuya, Y Umeno, T Okeda, S Shibata, S Kono, M Yasunami, H Ohkubo, Y Niho; Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese.. Diabetes 1 February 1999; 48 (2): 416–419. https://doi.org/10.2337/diabetes.48.2.416
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