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Diabetes 50:2169-2171, 2001
© 2001 by the American Diabetes Association, Inc.

Association of a Novel Point Mutation (C159G) of the CTLA4 Gene With Type 1 Diabetes in West Africans but not in Chinese

Douglas Osei-Hyiaman1,2, Lifang Hou1, Ren Zhiyin3, Zhang Zhiming4, Haiquin Yu5, Abena Agyeiwaa Amankwah6, and Shoji Harada7

1 Graduate School of Medicine, University of Tsukuba, Tsukuba city, Ibaraki-ken, Japan
2 Department of Medicine, Division of Endocrinology, Safo Adu Hospital, Kumasi, Ghana
3 Department of Internal Medicine, Taiyuan City Hospital, Shanxi
4 Department of Epidemiology, Shanxi Medical University, Shanxi
5 Department of Internal Medicine, Beicheng Central Hospital, Taiyuan, Shanxi, China
6 School of Medical Sciences, University of Science and Technology, Kumasi, Ghana
7 Graduate School of Medicine, Institute of Community Medicine, University of Tsukuba, Tsukuba city, Ibaraki-ken, Japan

Here, we report on the detection of a novel point mutation of the CTLA4 gene at nucleotide position 159 (C->G) leading to amino acid substitution at position 53 (I->M), as well as its association with type 1 diabetes in two ethnically distinct populations. Subjects included 182 unrelated type 1 diabetes children and 201 control subjects from Ghana, West Africa. The Chinese study population consisted of 350 type 1 diabetic children and 420 healthy control subjects from central China. Polymerase chain reaction–single-strand conformation polymorphism and sequence analysis were used to screen for polymorphisms in the CTLA4 gene. CTLA4 49 (A->G) mutation conferred a risk of type 1 diabetes in the Chinese children (odds ratio 1.78, 95% CI 1.58–2.0), but not in the West African children (1.17, 0.84–1.64). On the other hand, the novel CTLA4 159 (C->G) mutation conferred a risk of type 1 diabetes in the West African children (2.1, 1.54–2.86), but not in the Chinese type 1 diabetic children. The novel CTLA4 gene polymorphism at nucleotide position 159 significantly associated with type 1 diabetes in West Africans, but not in Chinese. On the other hand, the CTLA4 gene polymorphism at nucleotide position 49 significantly associated with type 1 diabetes in Chinese, but not in West Africans.


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 Am J EpidemiolHome page
F. K. Kavvoura and J. P. A. Ioannidis
CTLA-4 Gene Polymorphisms and Susceptibility to Type 1 Diabetes Mellitus: A HuGE Review and Meta-Analysis
Am. J. Epidemiol., July 1, 2005; 162(1): 3 - 16.
[Abstract] [Full Text] [PDF]


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Copyright © 2001 by the American Diabetes Association.