| Title |
Identification of a novel type 1 diabetes susceptibility gene, T-bet
|
|---|---|
| Published in |
Human Genetics, July 2004
|
| DOI | 10.1007/s00439-004-1146-2 |
| Pubmed ID | |
| Authors |
Yuka Sasaki, Kenji Ihara, Nobuo Matsuura, Hitoshi Kohno, Seiho Nagafuchi, Ryuichi Kuromaru, Koichi Kusuhara, Ryu Takeya, Timothy Hoey, Hideki Sumimoto, Toshiro Hara |
| Abstract |
The gene encoding interferon (IFN)-gamma, IFNG, is known as one of the candidate susceptibility genes for type 1 diabetes. In addition, cytokines, including IFN-gamma, play important roles in the pathogenesis of type 1 diabetes. Therefore, we focused on the Th1-specific T-box transcription factor gene (T-bet), which contributes to the induction of the hallmark Th1 cytokine, IFN-gamma. We first screened for polymorphisms in the T-bet gene and detected two microsatellite repeat polymorphisms located in intron 1 and the 3'- flanking region, and two single nucleotide polymorphisms, including a His33Gln substitution within the coding region. By association studies, the Gln-positive phenotype and (CA)14 allele in 3'-flanking region of T-bet were found to be associated with type 1 diabetes in the Japanese population. Furthermore, Gln33 T-bet showed a significantly higher transcriptional activity of the IFNG gene via a dual luciferase reporter assay. Our study suggests the first evidence of an association between type 1 diabetes and polymorphisms in the T-bet gene, and that variation in T-bet transcriptional activity may play a role in the development of type 1 diabetes, possibly through the effect on IFN-gamma production in Th1 cells. |
Mendeley readers
The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 7% |
| Unknown | 13 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 36% |
| Student > Doctoral Student | 2 | 14% |
| Unspecified | 1 | 7% |
| Professor | 1 | 7% |
| Other | 1 | 7% |
| Other | 2 | 14% |
| Unknown | 2 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 29% |
| Agricultural and Biological Sciences | 3 | 21% |
| Medicine and Dentistry | 2 | 14% |
| Nursing and Health Professions | 1 | 7% |
| Immunology and Microbiology | 1 | 7% |
| Other | 1 | 7% |
| Unknown | 2 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 July 2018.
All research outputs
#7,454,066
of 22,788,370 outputs
Outputs from Human Genetics
#933
of 2,953 outputs
Outputs of similar age
#18,647
of 54,016 outputs
Outputs of similar age from Human Genetics
#5
of 16 outputs
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